Variant report

Variant	esv3493993
Chromosome Location	chr1:144674667-144950191
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3110)
CpG islands
(count:1954)
Chromatin interactive
region (count:160)
LncRNA
region (count:73)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:3110 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:144853386-144853575	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:144887242-144887658	K562	blood:	n/a	n/a
3	ARID3A	chr1:144921610-144922130	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:144918090-144918310	K562	blood:	n/a	n/a
5	ARID3A	chr1:144938243-144938360	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:144931414-144931602	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:144923974-144924494	HepG2	liver:	n/a	chr1:144924178-144924194
8	ARID3A	chr1:144893871-144894101	K562	blood:	n/a	n/a
9	ARID3A	chr1:144937109-144937725	HepG2	liver:	n/a	n/a
10	ARID3A	chr1:144918079-144918361	HepG2	liver:	n/a	n/a
11	ARID3A	chr1:144931963-144932828	HepG2	liver:	n/a	n/a
12	ARID3A	chr1:144938874-144939338	HepG2	liver:	n/a	n/a
13	ATF1	chr1:144918124-144918317	K562	blood:	n/a	n/a
14	ATF1	chr1:144893850-144893916	K562	blood:	n/a	n/a
15	ATF2	chr1:144908134-144908746	GM12878	blood:	n/a	n/a
16	ATF2	chr1:144908048-144908805	GM12878	blood:	n/a	n/a
17	ATF2	chr1:144931771-144932702	GM12878	blood:	n/a	n/a
18	ATF2	chr1:144931922-144932867	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr1:144931876-144932753	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr1:144924377-144924386	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr1:144887336-144887619	K562	blood:	n/a	chr1:144887457-144887471
22	BACH1	chr1:144887269-144887748	H1-hESC	embryonic stem cell:	n/a	chr1:144887457-144887471
23	BACH1	chr1:144931477-144932093	H1-hESC	embryonic stem cell:	n/a	n/a
24	BATF	chr1:144816815-144817082	GM12878	blood:	n/a	n/a
25	BATF	chr1:144918063-144918340	GM12878	blood:	n/a	n/a
26	BATF	chr1:144811804-144812040	GM12878	blood:	n/a	n/a
27	BATF	chr1:144829153-144829560	GM12878	blood:	n/a	n/a
28	BATF	chr1:144828408-144829114	GM12878	blood:	n/a	n/a
29	BATF	chr1:144690796-144691031	GM12878	blood:	n/a	n/a
30	BATF	chr1:144828481-144829126	GM12878	blood:	n/a	n/a
31	BATF	chr1:144908154-144908914	GM12878	blood:	n/a	n/a
32	BATF	chr1:144822457-144822900	GM12878	blood:	n/a	n/a
33	BATF	chr1:144839402-144839606	GM12878	blood:	n/a	n/a
34	BATF	chr1:144908200-144908921	GM12878	blood:	n/a	n/a
35	BATF	chr1:144679564-144679880	GM12878	blood:	n/a	n/a
36	BATF	chr1:144822461-144822911	GM12878	blood:	n/a	n/a
37	BATF	chr1:144829180-144829396	GM12878	blood:	n/a	n/a
38	BATF	chr1:144840227-144840482	GM12878	blood:	n/a	n/a
39	BATF	chr1:144811689-144812035	GM12878	blood:	n/a	n/a
40	BATF	chr1:144816769-144817077	GM12878	blood:	n/a	n/a
41	BATF	chr1:144829689-144829978	GM12878	blood:	n/a	n/a
42	BATF	chr1:144679543-144679819	GM12878	blood:	n/a	n/a
43	BATF	chr1:144690283-144690581	GM12878	blood:	n/a	chr1:144690289-144690297 chr1:144690402-144690411
44	BCL11A	chr1:144829265-144829496	GM12878	blood:	n/a	n/a
45	BCL11A	chr1:144832400-144832824	GM12878	blood:	n/a	n/a
46	BCL11A	chr1:144828835-144829095	GM12878	blood:	n/a	n/a
47	BCL11A	chr1:144908211-144908941	GM12878	blood:	n/a	n/a
48	BCL11A	chr1:144822517-144822688	GM12878	blood:	n/a	n/a
49	BCL11A	chr1:144690657-144691064	GM12878	blood:	n/a	n/a
50	BCL11A	chr1:144687719-144687979	GM12878	blood:	n/a	n/a

(count:1954 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144815302-144815352	HUVEC	blood vessel:	n/a
2	chr1:144926986-144927036	T-47D	breast:	n/a
3	chr1:144815302-144815352	HUVEC	blood vessel:	n/a
4	chr1:144926986-144927036	T-47D	breast:	n/a
5	chr1:144937317-144937367	Jurkat	blood:	n/a
6	chr1:144928806-144928856	ovcar-3	ovarian:	n/a
7	chr1:144932311-144932361	PFSK-1	brain:	n/a
8	chr1:144926986-144927036	Hepatocyte	liver:	n/a
9	chr1:144859929-144859979	K562	blood:	n/a
10	chr1:144931980-144932030	A549	lung:	n/a
11	chr1:144931476-144931526	NB4	blood:	n/a
12	chr1:144932473-144932523	K562	blood:	n/a
13	chr1:144931379-144931429	HPAEpiC	pulmonary alveolar:	n/a
14	chr1:144892566-144892616	SAEC	small airway:	n/a
15	chr1:144913803-144913853	PANC-1	pancreas:	n/a
16	chr1:144811373-144811423	GM12891	blood:	n/a
17	chr1:144931476-144931526	HEK293	kidney:	embryo
18	chr1:144815302-144815352	NHBE	bronchial:	n/a
19	chr1:144814628-144814678	AoSMC	blood vessel:	n/a
20	chr1:144814628-144814678	NB4	blood:	n/a
21	chr1:144814628-144814678	K562	blood:	n/a
22	chr1:144930572-144930622	HEK293	kidney:	embryo
23	chr1:144930572-144930622	SK-N-MC	brain:	n/a
24	chr1:144932227-144932277	HEEpiC	esophagus:	n/a
25	chr1:144932227-144932277	HepG2	liver:	n/a
26	chr1:144814628-144814678	SK-N-SH_RA	brain:	n/a
27	chr1:144931966-144932016	NHDF-neo	bronchial:	n/a
28	chr1:144932914-144932964	GM12892	blood:	n/a
29	chr1:144932476-144932526	GM19239	blood:	n/a
30	chr1:144852047-144852097	HCF	heart:	n/a
31	chr1:144892566-144892616	HRPEpiC	eye:	n/a
32	chr1:144815915-144815965	BE2_C	brain:	n/a
33	chr1:144931379-144931429	K562	blood:	n/a
34	chr1:144913803-144913853	Jurkat	blood:	n/a
35	chr1:144930964-144931014	SK-N-SH_RA	brain:	n/a
36	chr1:144930964-144931014	NH-A	brain:	n/a
37	chr1:144932311-144932361	LNCaP	prostate:	n/a
38	chr1:144932476-144932526	MCF-7	breast:	n/a
39	chr1:144931476-144931526	HCPEpiC	choroid plexus:	n/a
40	chr1:144892566-144892616	SKMC	muscle:	n/a
41	chr1:144931980-144932030	PrEC	prostate:	n/a
42	chr1:144930964-144931014	Jurkat	blood:	n/a
43	chr1:144932136-144932186	H1-hESC	embryonic stem cell:	embryo
44	chr1:144931476-144931526	CMK	blood:	n/a
45	chr1:144931862-144931912	Hepatocyte	liver:	n/a
46	chr1:144928806-144928856	Jurkat	blood:	n/a
47	chr1:144932625-144932675	H1-hESC	embryonic stem cell:	embryo
48	chr1:144930964-144931014	NHDF-neo	bronchial:	n/a
49	chr1:144892566-144892616	AG04449	skin:	fetal
50	chr1:144931980-144932030	GM12891	blood:	n/a

(count:160 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr1:144894819..144897241-chr1:144898698..144901682,2	K562	blood:
2	chr1:144923461..144926279-chr1:144929594..144932453,4	K562	blood:
3	chr1:144891477..144893654-chr1:144895299..144897580,2	K562	blood:
4	chr1:144912771..144915909-chr1:144922533..144924963,5	MCF-7	breast:
5	chr1:144923562..144926497-chr1:145006728..145009314,2	MCF-7	breast:
6	chr1:144895702..144897735-chr1:144904870..144906981,2	MCF-7	breast:
7	chr1:144891477..144893654-chr1:144895299..144897580,2	K562	blood:
8	chr1:144935354..144938295-chr1:144938460..144940081,2	K562	blood:
9	chr1:144927042..144929439-chr1:145000648..145002279,2	MCF-7	breast:
10	chr1:144925057..144927728-chr1:145381929..145384283,2	MCF-7	breast:
11	chr1:144892597..144895392-chr11:118795022..118797131,2	MCF-7	breast:
12	chr1:144924964..144927595-chr1:145016965..145019616,2	MCF-7	breast:
13	chr1:144928885..144930474-chr1:144935425..144937244,2	K562	blood:
14	chr1:144913341..144914857-chr1:144914948..144916749,2	K562	blood:
15	chr1:144866768..144869173-chr1:144870721..144874864,3	K562	blood:
16	chr1:144932935..144935038-chr1:144937428..144939924,3	K562	blood:
17	chr1:144914245..144917269-chr1:144938650..144941626,3	K562	blood:
18	chr1:144922144..144925989-chr1:144935346..144938648,3	K562	blood:
19	chr1:144894819..144897241-chr1:144898698..144901682,2	K562	blood:
20	chr1:144946789..144948627-chr1:144995983..144997975,2	K562	blood:
21	chr1:144930600..144932534-chr1:145038038..145040681,2	MCF-7	breast:
22	chr1:144855730..144858367-chr1:144880531..144882326,2	MCF-7	breast:
23	chr1:144931684..144932440-chr1:144940811..144941415,2	MCF-7	breast:
24	chr1:144933330..144935038-chr1:144937428..144939924,2	K562	blood:
25	chr1:144853163..144855008-chr1:144856698..144858225,2	K562	blood:
26	chr1:144863488..144865055-chr1:144865799..144868536,2	K562	blood:
27	chr1:144887488..144889062-chr1:144895977..144898603,2	MCF-7	breast:
28	chr1:144708092..144711018-chr1:144989311..144991763,2	K562	blood:
29	chr1:144932022..144932702-chr7:1569907..1570774,2	Hela-S3	cervix:
30	chr1:144932003..144934560-chr1:145095329..145097401,2	MCF-7	breast:
31	chr1:144879410..144881863-chr1:144882763..144884923,2	K562	blood:
32	chr1:144873625..144876777-chr1:144880154..144883711,4	MCF-7	breast:
33	chr1:144886541..144889030-chr1:144932018..144933743,3	MCF-7	breast:
34	chr1:144888141..144890870-chr1:145070504..145072082,2	K562	blood:
35	chr1:144943493..144945510-chr1:145439161..145441032,2	MCF-7	breast:
36	chr1:144925446..144929176-chr1:145057629..145060761,3	MCF-7	breast:
37	chr1:144933330..144935038-chr1:144937428..144939924,2	K562	blood:
38	chr1:144861814..144863936-chr1:144885385..144887357,2	MCF-7	breast:
39	chr1:144928278..144930809-chr1:145113028..145115664,2	MCF-7	breast:
40	chr1:144928789..144931176-chr1:145015658..145018562,3	K562	blood:
41	chr1:144929876..144935601-chr1:144987785..144996108,12	MCF-7	breast:
42	chr1:144932935..144935038-chr1:144937428..144939924,3	K562	blood:
43	chr1:144928918..144931481-chr1:145062129..145063729,2	MCF-7	breast:
44	chr1:144932519..144933068-chr1:144989004..144989890,2	MCF-7	breast:
45	chr1:144879410..144881863-chr1:144882763..144884923,2	K562	blood:
46	chr1:144917701..144918598-chr1:145059017..145059574,2	MCF-7	breast:
47	chr1:144709036..144711011-chr1:144986149..144988620,2	K562	blood:
48	chr1:144858012..144861709-chr1:144865100..144867014,3	K562	blood:
49	chr1:144931527..144934135-chr2:172948979..172951801,2	MCF-7	breast:
50	chr1:144931784..144933992-chr8:86374827..86377261,2	MCF-7	breast:

(count:73 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLR3GL-8	chr1:144941080-144941367	NONHSAT005866
2	lnc-PDE4DIP-2	chr1:144836385-144836558	NONHSAT005846
3	lnc-PDE4DIP-2	chr1:144854165-144854450	NONHSAT005851
4	lnc-AL592284.1-1	chr1:144826235-144826286	NR_102405
5	lnc-AL592284.1-1	chr1:144825353-144825525	NR_102404
6	lnc-PDE4DIP-2	chr1:144837813-144837850	NONHSAT005844
7	lnc-NBPF9-2	chr1:144874945-144874987	ENSG00000254913.1
8	lnc-POLR3GL-8	chr1:144940612-144940760	NONHSAT005866
9	lnc-PDE4DIP-3	chr1:144833913-144834808	NONHSAT005843
10	lnc-AL592284.1-1	chr1:144817966-144818017	NR_102405
11	lnc-AL592284.1-1	chr1:144814560-144814894	NONHSAT005837
12	lnc-AL592284.1-1	chr1:144816316-144816795	NONHSAT005838
13	lnc-PDE4DIP-2	chr1:144836157-144836558	NONHSAT005844
14	lnc-PDE4DIP-2	chr1:144852299-144852499	NONHSAT005852
15	lnc-AL592284.1-1	chr1:144828541-144830407	NR_102405
16	lnc-PPIAL4B-8	chr1:144841842-144841896	NONHSAT005850
17	lnc-PDE4DIP-1	chr1:144835453-144835867	ENSG00000254539.1
18	lnc-PDE4DIP-2	chr1:144837859-144837884	NONHSAT005849
19	lnc-NBPF9-1	chr1:144865739-144865740	ENSG00000255148.1
20	lnc-AL592284.1-1	chr1:144823128-144823179	NR_102405
21	lnc-PDE4DIP-2	chr1:144837129-144837423	NONHSAT005844
22	lnc-AL592284.1-1	chr1:144824705-144824756	NR_102404
23	lnc-NBPF9-2	chr1:144877226-144877296	ENSG00000254913.1
24	lnc-PPIAL4B-8	chr1:144847426-144847494	NONHSAT005850
25	lnc-AL592284.1-1	chr1:144823813-144823985	NR_102404
26	lnc-AL592284.1-1	chr1:144815936-144816008	NONHSAT005838
27	lnc-PPIAL4B-8	chr1:144870338-144870459	NONHSAT005850
28	lnc-PDE4DIP-1	chr1:144833047-144833912	NONHSAT005841
29	lnc-AL592284.1-1	chr1:144823128-144823179	NR_102404
30	lnc-AL592284.1-1	chr1:144824705-144824756	NR_102405
31	lnc-NBPF9-2	chr1:144877872-144878163	ENSG00000254913.1
32	lnc-POLR3GL-8	chr1:144941764-144941802	NONHSAT005865
33	lnc-NBPF9-1	chr1:144865739-144865800	ENSG00000255148.1
34	lnc-AL592284.1-1	chr1:144827820-144827928	NR_102405
35	lnc-PPIAL4B-6	chr1:144857640-144857728	NONHSAT005854
36	lnc-POLR3GL-8	chr1:144940123-144940515	NONHSAT005865
37	lnc-AL592284.1-1	chr1:144817966-144818017	NR_102404
38	lnc-AL592284.1-1	chr1:144815936-144816049	NONHSAT005837
39	lnc-AL592284.1-1	chr1:144828973-144830389	NONHSAT005839
40	lnc-AL592284.1-1	chr1:144823813-144823985	NR_102405
41	lnc-AL592284.1-1	chr1:144826235-144826286	NR_102404
42	lnc-PPIAL4B-8	chr1:144868297-144868424	NONHSAT005850
43	lnc-AL592284.1-1	chr1:144826933-144827105	NR_102404
44	lnc-PPIAL4B-6	chr1:144859759-144860234	NONHSAT005854
45	lnc-PDE4DIP-1	chr1:144833168-144833621	ENSG00000254539.1
46	lnc-AL592284.1-1	chr1:144814680-144814894	NR_102405
47	lnc-AL592284.1-1	chr1:144816473-144816678	NR_102405
48	lnc-PPIAL4B-8	chr1:144869790-144869871	NONHSAT005850
49	lnc-PDE4DIP-2	chr1:144836655-144836804	NONHSAT005846
50	lnc-AL592284.1-1	chr1:144815936-144816008	NR_102404

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PDE4DIP	hsa-let-7a-5p	chr1:144851770-144851794

Variant related genes	Relation type
PDE4DIP	TF binding region
ENSG00000266739	TF binding region
NBPF9	TF binding region
ENSG00000255148	TF binding region
ENSG00000254913	TF binding region
ENSG00000215861	TF binding region
ENSG00000254539	TF binding region
RNU2-38P	TF binding region
PDE4DIP	CpG island
ENSG00000266739	CpG island
NBPF9	CpG island
ENSG00000255148	CpG island
ENSG00000254913	CpG island
ENSG00000215861	CpG island
ENSG00000254539	CpG island
RNU2-38P	CpG island
ENSG00000117289	chromatin interactions
ENSG00000266739	chromatin interactions
ENSG00000253549	chromatin interactions
ENSG00000140450	chromatin interactions
ENSG00000110375	chromatin interactions
ENSG00000272755	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000252656	chromatin interactions
ENSG00000268172	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000235092	chromatin interactions
ENSG00000186174	chromatin interactions
ENSG00000198517	chromatin interactions
ENSG00000223380	chromatin interactions
ENSG00000137331	chromatin interactions
ENSG00000149823	chromatin interactions
ENSG00000268869	chromatin interactions
ENSG00000241721	chromatin interactions
ENSG00000108846	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000104267	chromatin interactions
ENSG00000159884	chromatin interactions
ENSG00000222788	chromatin interactions
ENSG00000144355	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000269900	chromatin interactions
ENSG00000254913	chromatin interactions
ENSG00000255148	chromatin interactions
ENSG00000115738	chromatin interactions

Extended variants
information (count: 8224 )
Associated
traits (count: 170 )

Variant overlapped rSNPs/rCNVs (count:8224 , 50 per page) page: 1 2 3 4 5 6 7 ... 165

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587721821	chr1:144674693-144674694	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs587625741	chr1:144674694-144674695	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111835519	chr1:144674724-144674725	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61810932	chr1:144674735-144674736	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs587676507	chr1:144674749-144674750	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs587761521	chr1:144674752-144674753	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587618054	chr1:144674753-144674754	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370725210	chr1:144674766-144674767	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191585496	chr1:144674772-144674773	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587755922	chr1:144674779-144674780	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587642677	chr1:144674791-144674792	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111555074	chr1:144674818-144674819	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs66921165	chr1:144674819-144674820	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587721151	chr1:144674869-144674870	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538192	chr1:144674892-144674893	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72701814	chr1:144674900-144674901	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs373149468	chr1:144674915-144674916	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587654795	chr1:144674920-144674921	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199984330	chr1:144674924-144674925	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367938438	chr1:144674925-144674926	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61810933	chr1:144674926-144674927	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111534436	chr1:144674927-144674928	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111449106	chr1:144674928-144674929	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371178957	chr1:144674930-144674931	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375089391	chr1:144674932-144674933	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587631438	chr1:144674991-144674992	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587688849	chr1:144675009-144675010	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs587747853	chr1:144675051-144675052	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199930076	chr1:144675100-144675101	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs587594621	chr1:144675173-144675174	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs635094	chr1:144675179-144675180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs587690946	chr1:144675183-144675184	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs587727286	chr1:144675297-144675298	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs587620629	chr1:144675306-144675307	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs587662517	chr1:144675309-144675310	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs587736316	chr1:144675381-144675382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs587618119	chr1:144675392-144675393	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147973685	chr1:144675428-144675429	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1663974	chr1:144675445-144675446	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587698015	chr1:144675461-144675462	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587767770	chr1:144675472-144675473	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200376774	chr1:144675477-144675478	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587620169	chr1:144675487-144675488	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587693539	chr1:144675492-144675493	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149566295	chr1:144675501-144675502	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587649292	chr1:144675512-144675513	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587712774	chr1:144675535-144675536	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587776061	chr1:144675557-144675558	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200762578	chr1:144675560-144675561	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587666411	chr1:144675562-144675563	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:170)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Williams Syndrome	20824207	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	20858243	CNVD

Chromatin state (count:5434 , 50 per page) page: 1 2 3 4 5 6 7 ... 109

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144672600-144676200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:144672600-144691600	Weak transcription	Left Ventricle	heart
3	chr1:144673200-144675400	Weak transcription	Placenta	Placenta
4	chr1:144673200-144679400	Weak transcription	Liver	Liver
5	chr1:144673200-144679600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:144673400-144681600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:144673600-144675400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:144673600-144675400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:144673800-144676400	Strong transcription	HSMMtube	muscle
10	chr1:144673800-144677200	Weak transcription	Brain Germinal Matrix	brain
11	chr1:144674000-144675600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:144674000-144676400	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:144674000-144676800	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:144674000-144685600	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:144674000-144691600	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:144674200-144689600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:144674400-144674800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:144674400-144675600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:144674400-144676200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:144674400-144676600	Strong transcription	K562	blood
21	chr1:144674400-144679400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:144674400-144687600	Weak transcription	Psoas Muscle	Psoas
23	chr1:144674600-144674800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:144674600-144674800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:144674600-144674800	Enhancers	Brain Angular Gyrus	brain
26	chr1:144674600-144674800	Genic enhancers	Brain Anterior Caudate	brain
27	chr1:144674600-144674800	Enhancers	Brain Cingulate Gyrus	brain
28	chr1:144674600-144674800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:144674600-144674800	Enhancers	Fetal Heart	heart
30	chr1:144674600-144674800	Enhancers	Rectal Smooth Muscle	rectum
31	chr1:144674600-144674800	Enhancers	Right Ventricle	heart
32	chr1:144674600-144674800	Enhancers	Stomach Smooth Muscle	stomach
33	chr1:144674600-144674800	Enhancers	HSMM	muscle
34	chr1:144674600-144674800	Enhancers	NHDF-Ad	bronchial
35	chr1:144674600-144674800	Enhancers	Osteobl	bone
36	chr1:144674600-144675000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:144674600-144676200	Enhancers	Colon Smooth Muscle	Colon
38	chr1:144674600-144676800	Weak transcription	Fetal Brain Female	brain
39	chr1:144674600-144679600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:144674800-144675200	Weak transcription	Brain Anterior Caudate	brain
41	chr1:144674800-144675400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:144674800-144675400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:144674800-144675400	Weak transcription	Fetal Heart	heart
44	chr1:144674800-144675400	Weak transcription	HSMM	muscle
45	chr1:144674800-144675400	Weak transcription	Osteobl	bone
46	chr1:144674800-144677400	Weak transcription	Right Ventricle	heart
47	chr1:144674800-144678400	Weak transcription	NHDF-Ad	bronchial
48	chr1:144674800-144679200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:144674800-144679600	Weak transcription	Brain Angular Gyrus	brain
50	chr1:144674800-144683400	Weak transcription	Brain Cingulate Gyrus	brain

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