Variant report

Variant	nsv946244
Chromosome Location	chr1:144811539-144897508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1078)
CpG islands
(count:488)
Chromatin interactive
region (count:54)
LncRNA
region (count:67)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1078 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:144893871-144894101	K562	blood:	n/a	n/a
2	ARID3A	chr1:144853386-144853575	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:144887242-144887658	K562	blood:	n/a	n/a
4	ATF1	chr1:144893850-144893916	K562	blood:	n/a	n/a
5	BACH1	chr1:144887269-144887748	H1-hESC	embryonic stem cell:	n/a	chr1:144887457-144887471
6	BACH1	chr1:144887336-144887619	K562	blood:	n/a	chr1:144887457-144887471
7	BATF	chr1:144839402-144839606	GM12878	blood:	n/a	n/a
8	BATF	chr1:144829180-144829396	GM12878	blood:	n/a	n/a
9	BATF	chr1:144816815-144817082	GM12878	blood:	n/a	n/a
10	BATF	chr1:144829153-144829560	GM12878	blood:	n/a	n/a
11	BATF	chr1:144828408-144829114	GM12878	blood:	n/a	n/a
12	BATF	chr1:144811689-144812035	GM12878	blood:	n/a	n/a
13	BATF	chr1:144829689-144829978	GM12878	blood:	n/a	n/a
14	BATF	chr1:144828481-144829126	GM12878	blood:	n/a	n/a
15	BATF	chr1:144822461-144822911	GM12878	blood:	n/a	n/a
16	BATF	chr1:144811804-144812040	GM12878	blood:	n/a	n/a
17	BATF	chr1:144840227-144840482	GM12878	blood:	n/a	n/a
18	BATF	chr1:144816769-144817077	GM12878	blood:	n/a	n/a
19	BATF	chr1:144822457-144822900	GM12878	blood:	n/a	n/a
20	BCL11A	chr1:144829792-144829953	GM12878	blood:	n/a	n/a
21	BCL11A	chr1:144816834-144816993	GM12878	blood:	n/a	n/a
22	BCL11A	chr1:144832400-144832824	GM12878	blood:	n/a	n/a
23	BCL11A	chr1:144829265-144829496	GM12878	blood:	n/a	n/a
24	BCL11A	chr1:144831131-144831365	GM12878	blood:	n/a	n/a
25	BCL11A	chr1:144828835-144829095	GM12878	blood:	n/a	n/a
26	BCL11A	chr1:144829682-144829901	GM12878	blood:	n/a	n/a
27	BCL11A	chr1:144822517-144822688	GM12878	blood:	n/a	n/a
28	BCL11A	chr1:144840106-144840287	GM12878	blood:	n/a	n/a
29	BCL11A	chr1:144811376-144811736	GM12878	blood:	n/a	n/a
30	BCL11A	chr1:144828446-144828898	GM12878	blood:	n/a	n/a
31	BCL11A	chr1:144828457-144828809	GM12878	blood:	n/a	n/a
32	BHLHE40	chr1:144881409-144881640	K562	blood:	n/a	n/a
33	BHLHE40	chr1:144811752-144811972	HepG2	liver:	n/a	n/a
34	BHLHE40	chr1:144887736-144887832	K562	blood:	n/a	n/a
35	BRCA1	chr1:144867964-144867976	GM12878	blood:	n/a	n/a
36	CBX3	chr1:144840144-144840565	K562	blood:	n/a	n/a
37	CCNT2	chr1:144881456-144881641	K562	blood:	n/a	n/a
38	CCNT2	chr1:144881870-144882070	K562	blood:	n/a	n/a
39	CEBPB	chr1:144891727-144892119	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr1:144884857-144885106	K562	blood:	n/a	chr1:144884984-144884995
41	CEBPB	chr1:144893629-144894043	K562	blood:	n/a	n/a
42	CEBPB	chr1:144891560-144892204	IMR90	lung:	n/a	n/a
43	CEBPB	chr1:144868606-144868965	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr1:144868697-144868923	IMR90	lung:	n/a	n/a
45	CEBPB	chr1:144888759-144889027	HepG2	liver:	n/a	chr1:144888868-144888881 chr1:144888889-144888900 chr1:144888889-144888902
46	CEBPB	chr1:144891731-144892054	MCF-7	breast:	n/a	n/a
47	CEBPB	chr1:144888855-144888901	K562	blood:	n/a	chr1:144888868-144888881 chr1:144888889-144888900
48	CEBPB	chr1:144893729-144893974	K562	blood:	n/a	n/a
49	CEBPB	chr1:144893700-144894047	HepG2	liver:	n/a	n/a
50	CEBPB	chr1:144888845-144889029	A549	lung:	n/a	chr1:144888868-144888881 chr1:144888889-144888900 chr1:144888889-144888902

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144887235-144887285	IMR90	lung:	fetal
2	chr1:144859929-144859979	SK-N-MC	brain:	n/a
3	chr1:144814628-144814678	HRCEpiC	kidney:	n/a
4	chr1:144859929-144859979	PFSK-1	brain:	n/a
5	chr1:144892566-144892616	AoSMC	blood vessel:	n/a
6	chr1:144892566-144892616	HEK293	kidney:	embryo
7	chr1:144859929-144859979	Hepatocyte	liver:	n/a
8	chr1:144815302-144815352	NHDF-neo	bronchial:	n/a
9	chr1:144815915-144815965	HCF	heart:	n/a
10	chr1:144859929-144859979	SK-N-SH_RA	brain:	n/a
11	chr1:144815302-144815352	GM12878	blood:	n/a
12	chr1:144859929-144859979	GM06990	blood:	n/a
13	chr1:144892111-144892161	HCF	heart:	n/a
14	chr1:144892566-144892616	HL-60	blood:	n/a
15	chr1:144859929-144859979	HCPEpiC	choroid plexus:	n/a
16	chr1:144887235-144887285	Jurkat	blood:	n/a
17	chr1:144815915-144815965	SAEC	small airway:	n/a
18	chr1:144892566-144892616	K562	blood:	n/a
19	chr1:144859929-144859979	HUVEC	blood vessel:	n/a
20	chr1:144814628-144814678	HCM	heart:	n/a
21	chr1:144892111-144892161	SKMC	muscle:	n/a
22	chr1:144887235-144887285	HepG2	liver:	n/a
23	chr1:144852047-144852097	HNPCEpiC	eye:	n/a
24	chr1:144892111-144892161	K562	blood:	n/a
25	chr1:144814628-144814678	H1-hESC	embryonic stem cell:	embryo
26	chr1:144892111-144892161	NT2-D1	testis:	n/a
27	chr1:144892566-144892616	ECC-1	luminal epithelium:	n/a
28	chr1:144814628-144814678	SKMC	muscle:	n/a
29	chr1:144887235-144887285	HIPEpiC	eye:	n/a
30	chr1:144815302-144815352	MCF10A-Er-Src	breast:	n/a
31	chr1:144815915-144815965	IMR90	lung:	fetal
32	chr1:144814628-144814678	AG10803	skin:	n/a
33	chr1:144892566-144892616	BE2_C	brain:	n/a
34	chr1:144859929-144859979	K562	blood:	n/a
35	chr1:144859929-144859979	ProgFib	skin:	n/a
36	chr1:144892566-144892616	NHDF-neo	bronchial:	n/a
37	chr1:144887235-144887285	AG10803	skin:	n/a
38	chr1:144892111-144892161	SAEC	small airway:	n/a
39	chr1:144892111-144892161	NHBE	bronchial:	n/a
40	chr1:144887235-144887285	HCM	heart:	n/a
41	chr1:144852047-144852097	A549	lung:	n/a
42	chr1:144815302-144815352	GM19239	blood:	n/a
43	chr1:144892566-144892616	LNCaP	prostate:	n/a
44	chr1:144814628-144814678	U87	brain:	n/a
45	chr1:144892111-144892161	HEEpiC	esophagus:	n/a
46	chr1:144859929-144859979	NHBE	bronchial:	n/a
47	chr1:144887235-144887285	AG09309	skin:	n/a
48	chr1:144859929-144859979	ECC-1	luminal epithelium:	n/a
49	chr1:144814628-144814678	Hela-S3	cervix:	n/a
50	chr1:144815915-144815965	A549	lung:	n/a

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:144894819..144897241-chr1:144898698..144901682,2	K562	blood:
2	chr1:144892597..144895392-chr11:118795022..118797131,2	MCF-7	breast:
3	chr1:144883229..144886021-chr1:146495313..146498284,2	MCF-7	breast:
4	chr1:144895504..144897115-chr1:144905432..144907751,3	K562	blood:
5	chr1:144858012..144861709-chr1:144865100..144867014,3	K562	blood:
6	chr1:144877869..144879998-chr1:144892579..144894748,2	MCF-7	breast:
7	chr1:144866768..144869173-chr1:144870721..144874864,3	K562	blood:
8	chr1:144892599..144896749-chr1:144930798..144933879,5	MCF-7	breast:
9	chr1:17046027..17047625-chr1:144886603..144888109,2	MCF-7	breast:
10	chr1:144895341..144897404-chr1:144905462..144906982,2	MCF-7	breast:
11	chr1:144891174..144892693-chr1:144930887..144933429,2	MCF-7	breast:
12	chr1:144887488..144889062-chr1:144895977..144898603,2	MCF-7	breast:
13	chr1:144858037..144860054-chr1:144867098..144869572,2	K562	blood:
14	chr1:144858037..144860054-chr1:144867098..144869572,2	K562	blood:
15	chr1:144866177..144868496-chr1:144870721..144873668,3	K562	blood:
16	chr1:144853163..144855008-chr1:144856698..144858225,2	K562	blood:
17	chr1:144879410..144881863-chr1:144882763..144884923,2	K562	blood:
18	chr1:144891214..144893695-chr1:144896100..144898968,2	MCF-7	breast:
19	chr1:144861786..144864624-chr1:144881141..144883484,2	MCF-7	breast:
20	chr1:17045982..17048017-chr1:144885102..144888081,2	K562	blood:
21	chr1:144878185..144879777-chr1:144881889..144884530,2	MCF-7	breast:
22	chr1:144881667..144883836-chr1:144885018..144890367,4	K562	blood:
23	chr1:144863488..144865055-chr1:144865799..144868536,2	K562	blood:
24	chr1:144856713..144858353-chr1:144872499..144875477,2	K562	blood:
25	chr1:144873625..144876777-chr1:144880154..144883711,4	MCF-7	breast:
26	chr1:144869766..144871814-chr1:144872899..144874781,2	MCF-7	breast:
27	chr1:144889740..144892703-chr1:146500075..146502138,3	MCF-7	breast:
28	chr1:144859042..144861669-chr1:144863845..144865437,2	MCF-7	breast:
29	chr1:144879410..144881863-chr1:144882763..144884923,2	K562	blood:
30	chr1:144891477..144893654-chr1:144895299..144897580,2	K562	blood:
31	chr1:144873625..144876777-chr1:144880154..144883711,4	MCF-7	breast:
32	chr1:144891477..144893654-chr1:144895299..144897580,2	K562	blood:
33	chr1:144891445..144893339-chr1:146502271..146504240,2	MCF-7	breast:
34	chr1:144874282..144876288-chr1:144878980..144880964,2	K562	blood:
35	chr1:144861814..144863936-chr1:144885385..144887357,2	MCF-7	breast:
36	chr1:144888141..144890870-chr1:145070504..145072082,2	K562	blood:
37	chr1:144890884..144894068-chr1:146500995..146504405,3	K562	blood:
38	chr1:144887488..144889062-chr1:144895977..144898603,2	MCF-7	breast:
39	chr1:144853163..144855008-chr1:144856698..144858225,2	K562	blood:
40	chr1:144858012..144861709-chr1:144865100..144867014,3	K562	blood:
41	chr1:144869766..144871814-chr1:144872899..144874781,2	MCF-7	breast:
42	chr1:144893909..144894771-chr8:51229590..51230343,2	MCF-7	breast:
43	chr1:144856713..144858353-chr1:144872499..144875477,2	K562	blood:
44	chr1:144855730..144858367-chr1:144880531..144882326,2	MCF-7	breast:
45	chr1:144861814..144863936-chr1:144885385..144887357,2	MCF-7	breast:
46	chr1:144893446..144895237-chr1:144930953..144933183,2	MCF-7	breast:
47	chr1:144870185..144872708-chr1:149042100..149043905,2	MCF-7	breast:
48	chr1:144873922..144875453-chr1:144885951..144887655,2	MCF-7	breast:
49	chr1:144886541..144889030-chr1:144932018..144933743,3	MCF-7	breast:
50	chr1:144891214..144893695-chr1:144896100..144898968,2	MCF-7	breast:

(count:67 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE4DIP-1	chr1:144833168-144833621	ENSG00000254539.1
2	lnc-PDE4DIP-2	chr1:144837859-144837884	NONHSAT005849
3	lnc-AL592284.1-1	chr1:144826933-144827105	NR_102405
4	lnc-PDE4DIP-1	chr1:144835453-144835867	ENSG00000254539.1
5	lnc-AL592284.1-1	chr1:144815936-144816008	NR_102404
6	lnc-AL592284.1-1	chr1:144816473-144816678	NR_102405
7	lnc-PDE4DIP-2	chr1:144837129-144837429	NONHSAT005846
8	lnc-PPIAL4B-8	chr1:144869790-144869871	NONHSAT005850
9	lnc-PPIAL4B-8	chr1:144847426-144847494	NONHSAT005850
10	lnc-NBPF9-2	chr1:144877872-144878163	ENSG00000254913.1
11	lnc-PPIAL4B-8	chr1:144868297-144868424	NONHSAT005850
12	lnc-AL592284.1-1	chr1:144814680-144814894	NR_102405
13	lnc-PDE4DIP-2	chr1:144837129-144837423	NONHSAT005844
14	lnc-PDE4DIP-3	chr1:144833913-144834808	NONHSAT005843
15	lnc-AL592284.1-1	chr1:144826235-144826286	NR_102404
16	lnc-PDE4DIP-2	chr1:144852299-144852499	NONHSAT005852
17	lnc-NBPF9-1	chr1:144858639-144858781	ENSG00000255148.1
18	lnc-AL592284.1-1	chr1:144828541-144830407	NR_102405
19	lnc-NBPF9-1	chr1:144858174-144858522	ENSG00000255148.1
20	lnc-AL592284.1-1	chr1:144825353-144825525	NR_102404
21	lnc-PDE4DIP-2	chr1:144836655-144836804	NONHSAT005846
22	lnc-AL592284.1-1	chr1:144824705-144824756	NR_102404
23	lnc-PPIAL4B-8	chr1:144837900-144838083	NONHSAT005850
24	lnc-AL592284.1-1	chr1:144814560-144814894	NONHSAT005837
25	lnc-AL592284.1-1	chr1:144815936-144816049	NONHSAT005837
26	lnc-AL592284.1-1	chr1:144827820-144827928	NR_102405
27	lnc-AL592284.1-1	chr1:144823813-144823985	NR_102404
28	lnc-AL592284.1-1	chr1:144816473-144816678	NR_102404
29	lnc-PDE4DIP-4	chr1:144832200-144833038	NONHSAT005840
30	lnc-AL592284.1-1	chr1:144816316-144816795	NONHSAT005838
31	lnc-AL592284.1-1	chr1:144827820-144827928	NR_102404
32	lnc-AL592284.1-1	chr1:144813742-144813844	NR_102404
33	lnc-PPIAL4B-8	chr1:144858740-144858933	NONHSAT005850
34	lnc-PPIAL4B-8	chr1:144848404-144848435	NONHSAT005850
35	lnc-PPIAL4B-8	chr1:144841842-144841896	NONHSAT005850
36	lnc-AL592284.1-1	chr1:144823128-144823179	NR_102405
37	lnc-PDE4DIP-2	chr1:144854165-144854450	NONHSAT005851
38	lnc-PDE4DIP-2	chr1:144836157-144836558	NONHSAT005844
39	lnc-AL592284.1-1	chr1:144826235-144826286	NR_102405
40	lnc-NBPF9-1	chr1:144865739-144865800	ENSG00000255148.1
41	lnc-AL592284.1-1	chr1:144825353-144825525	NR_102405
42	lnc-PDE4DIP-1	chr1:144833047-144833912	NONHSAT005841
43	lnc-AL592284.1-1	chr1:144823813-144823985	NR_102405
44	lnc-AL592284.1-1	chr1:144815936-144816008	NONHSAT005838
45	lnc-PDE4DIP-2	chr1:144853219-144853294	NONHSAT005852
46	lnc-PDE4DIP-2	chr1:144851946-144852499	NONHSAT005851
47	lnc-AL592284.1-1	chr1:144824705-144824756	NR_102405
48	lnc-AL592284.1-1	chr1:144815936-144816008	NR_102405
49	lnc-NBPF9-1	chr1:144858211-144858781	ENSG00000255148.1
50	lnc-AL592284.1-1	chr1:144817966-144818017	NR_102405

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
ENSG00000254539	TF binding region
PDE4DIP	CpG island
ENSG00000266739	CpG island
NBPF9	CpG island
ENSG00000255148	CpG island
ENSG00000254913	CpG island
ENSG00000254539	CpG island
ENSG00000255148	chromatin interactions
ENSG00000186174	chromatin interactions
ENSG00000268869	chromatin interactions
ENSG00000266739	chromatin interactions
ENSG00000254913	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000110375	chromatin interactions

Extended variants
information (count: 4634 )
Associated
traits (count: 167 )

Variant overlapped rSNPs/rCNVs (count:4634 , 50 per page) page: 1 2 3 4 5 6 7 ... 93

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587665665	chr1:144811600-144811601	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs587728746	chr1:144811604-144811605	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs368442111	chr1:144811605-144811606	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs587681770	chr1:144811607-144811608	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs189457766	chr1:144811610-144811611	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs372365142	chr1:144811619-144811620	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs587627064	chr1:144811631-144811632	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs371743842	chr1:144811633-144811634	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs3979895	chr1:144811654-144811655	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs587690164	chr1:144811716-144811717	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs587764714	chr1:144811724-144811725	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs587644145	chr1:144811760-144811761	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs587743809	chr1:144811783-144811784	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs587772260	chr1:144811797-144811798	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs71231749	chr1:144811805-144811806	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs9725770	chr1:144811823-144811824	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9730002	chr1:144811827-144811828	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs320820	chr1:144811836-144811837	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs7411539	chr1:144811842-144811843	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs587625653	chr1:144811845-144811846	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs9442123	chr1:144811856-144811857	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs587718730	chr1:144811875-144811876	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs3979893	chr1:144811912-144811913	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs587595653	chr1:144811914-144811915	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs320821	chr1:144811924-144811925	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs587728611	chr1:144811937-144811938	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs28656276	chr1:144811941-144811942	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs587605093	chr1:144811943-144811944	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs587681687	chr1:144811944-144811945	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs587738688	chr1:144811950-144811951	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs587634146	chr1:144811960-144811961	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs587685090	chr1:144811967-144811968	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs28458244	chr1:144811968-144811969	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs9725786	chr1:144811969-144811970	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs373375162	chr1:144811978-144811979	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs587745614	chr1:144811982-144811983	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs587613352	chr1:144811990-144811991	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs28624663	chr1:144811996-144811997	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs587719630	chr1:144811999-144812000	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs9730030	chr1:144812018-144812019	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs587672745	chr1:144812019-144812020	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs587705181	chr1:144812053-144812054	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs9725799	chr1:144812060-144812061	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs587758689	chr1:144812061-144812062	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs587638122	chr1:144812122-144812123	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs587711683	chr1:144812147-144812148	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs587594216	chr1:144812163-144812164	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs370192045	chr1:144812170-144812171	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs111995601	chr1:144812225-144812226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373075182	chr1:144812243-144812244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:167)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2104 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144809400-144814600	Weak transcription	Fetal Stomach	stomach
2	chr1:144809400-144839800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:144809600-144811800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:144809600-144840400	Weak transcription	Fetal Intestine Large	intestine
5	chr1:144809800-144812800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:144809800-144812800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:144809800-144813000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:144809800-144813600	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:144809800-144814200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:144809800-144814200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:144809800-144814200	Weak transcription	Liver	Liver
12	chr1:144809800-144814600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:144809800-144814800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:144809800-144815000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:144809800-144825400	Weak transcription	Lung	lung
16	chr1:144809800-144826000	Weak transcription	Left Ventricle	heart
17	chr1:144809800-144836200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:144809800-144840200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:144809800-144840400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:144809800-144840400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:144809800-144840400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:144809800-144840400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:144809800-144840800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:144809800-144840800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:144809800-144840800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:144809800-144841000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:144810000-144840800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:144810000-144843200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:144810200-144826200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:144811400-144812400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:144811400-144812400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:144811400-144813000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:144811400-144814200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:144811400-144814200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:144811400-144814600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr1:144811400-144821200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr1:144811400-144824000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:144811400-144825400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:144811400-144828400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:144811400-144840400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:144811400-144840800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:144811400-144840800	Weak transcription	Right Ventricle	heart
43	chr1:144811600-144814200	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:144811600-144814200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:144811600-144816200	Weak transcription	Adipose Nuclei	Adipose
46	chr1:144811600-144824400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr1:144811600-144841000	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:144811600-144842200	Weak transcription	HUVEC	blood vessel
49	chr1:144811800-144813400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:144811800-144831000	Weak transcription	Placenta	Placenta

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