Variant report

Variant	nsv872210
Chromosome Location	chr1:144617179-144924792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2199)
CpG islands
(count:794)
Chromatin interactive
region (count:87)
LncRNA
region (count:105)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:2199 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:144887242-144887658	K562	blood:	n/a	n/a
2	ARID3A	chr1:144893871-144894101	K562	blood:	n/a	n/a
3	ARID3A	chr1:144918079-144918361	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:144918090-144918310	K562	blood:	n/a	n/a
5	ARID3A	chr1:144921610-144922130	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:144853386-144853575	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:144923974-144924494	HepG2	liver:	n/a	chr1:144924178-144924194
8	ATF1	chr1:144918124-144918317	K562	blood:	n/a	n/a
9	ATF1	chr1:144893850-144893916	K562	blood:	n/a	n/a
10	ATF2	chr1:144908048-144908805	GM12878	blood:	n/a	n/a
11	ATF2	chr1:144908134-144908746	GM12878	blood:	n/a	n/a
12	BACH1	chr1:144924377-144924386	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr1:144887336-144887619	K562	blood:	n/a	chr1:144887457-144887471
14	BACH1	chr1:144887269-144887748	H1-hESC	embryonic stem cell:	n/a	chr1:144887457-144887471
15	BATF	chr1:144908200-144908921	GM12878	blood:	n/a	n/a
16	BATF	chr1:144811804-144812040	GM12878	blood:	n/a	n/a
17	BATF	chr1:144621396-144621792	GM12878	blood:	n/a	n/a
18	BATF	chr1:144690796-144691031	GM12878	blood:	n/a	n/a
19	BATF	chr1:144811689-144812035	GM12878	blood:	n/a	n/a
20	BATF	chr1:144918063-144918340	GM12878	blood:	n/a	n/a
21	BATF	chr1:144618285-144618435	GM12878	blood:	n/a	n/a
22	BATF	chr1:144840227-144840482	GM12878	blood:	n/a	n/a
23	BATF	chr1:144828408-144829114	GM12878	blood:	n/a	n/a
24	BATF	chr1:144816769-144817077	GM12878	blood:	n/a	n/a
25	BATF	chr1:144618572-144618830	GM12878	blood:	n/a	n/a
26	BATF	chr1:144908154-144908914	GM12878	blood:	n/a	n/a
27	BATF	chr1:144829153-144829560	GM12878	blood:	n/a	n/a
28	BATF	chr1:144679543-144679819	GM12878	blood:	n/a	n/a
29	BATF	chr1:144829689-144829978	GM12878	blood:	n/a	n/a
30	BATF	chr1:144690283-144690581	GM12878	blood:	n/a	chr1:144690289-144690297 chr1:144690402-144690411
31	BATF	chr1:144822461-144822911	GM12878	blood:	n/a	n/a
32	BATF	chr1:144839402-144839606	GM12878	blood:	n/a	n/a
33	BATF	chr1:144822457-144822900	GM12878	blood:	n/a	n/a
34	BATF	chr1:144828481-144829126	GM12878	blood:	n/a	n/a
35	BATF	chr1:144816815-144817082	GM12878	blood:	n/a	n/a
36	BATF	chr1:144829180-144829396	GM12878	blood:	n/a	n/a
37	BATF	chr1:144672666-144672904	GM12878	blood:	n/a	n/a
38	BATF	chr1:144618840-144619109	GM12878	blood:	n/a	n/a
39	BATF	chr1:144679564-144679880	GM12878	blood:	n/a	n/a
40	BATF	chr1:144617485-144617685	GM12878	blood:	n/a	n/a
41	BCL11A	chr1:144687719-144687979	GM12878	blood:	n/a	n/a
42	BCL11A	chr1:144822517-144822688	GM12878	blood:	n/a	n/a
43	BCL11A	chr1:144829265-144829496	GM12878	blood:	n/a	n/a
44	BCL11A	chr1:144690673-144690958	GM12878	blood:	n/a	n/a
45	BCL11A	chr1:144828457-144828809	GM12878	blood:	n/a	n/a
46	BCL11A	chr1:144620110-144620305	GM12878	blood:	n/a	n/a
47	BCL11A	chr1:144832400-144832824	GM12878	blood:	n/a	n/a
48	BCL11A	chr1:144621190-144621435	GM12878	blood:	n/a	n/a
49	BCL11A	chr1:144816834-144816993	GM12878	blood:	n/a	n/a
50	BCL11A	chr1:144829682-144829901	GM12878	blood:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144913803-144913853	HCPEpiC	choroid plexus:	n/a
2	chr1:144913803-144913853	HCPEpiC	choroid plexus:	n/a
3	chr1:144913803-144913853	HAEpiC	amniotic membrane:	n/a
4	chr1:144887235-144887285	HPAEpiC	pulmonary alveolar:	n/a
5	chr1:144892566-144892616	SK-N-MC	brain:	n/a
6	chr1:144692074-144692124	HCT-116	colon:	n/a
7	chr1:144892111-144892161	Caco-2	colon:	n/a
8	chr1:144892111-144892161	AG04449	skin:	fetal
9	chr1:144913803-144913853	AG10803	skin:	n/a
10	chr1:144892566-144892616	AG09319	gingival:	n/a
11	chr1:144619354-144619404	NB4	blood:	n/a
12	chr1:144814628-144814678	HCM	heart:	n/a
13	chr1:144811373-144811423	HIPEpiC	eye:	n/a
14	chr1:144814628-144814678	HRE	kidney:	n/a
15	chr1:144892111-144892161	T-47D	breast:	n/a
16	chr1:144852047-144852097	T-47D	breast:	n/a
17	chr1:144619354-144619404	HCM	heart:	n/a
18	chr1:144892111-144892161	SAEC	small airway:	n/a
19	chr1:144913803-144913853	SK-N-SH_RA	brain:	n/a
20	chr1:144811373-144811423	HCPEpiC	choroid plexus:	n/a
21	chr1:144887235-144887285	IMR90	lung:	fetal
22	chr1:144811373-144811423	HepG2	liver:	n/a
23	chr1:144852047-144852097	HRCEpiC	kidney:	n/a
24	chr1:144620428-144620478	SK-N-SH	brain:	n/a
25	chr1:144892566-144892616	PFSK-1	brain:	n/a
26	chr1:144811373-144811423	AG10803	skin:	n/a
27	chr1:144815302-144815352	U87	brain:	n/a
28	chr1:144887235-144887285	GM12878	blood:	n/a
29	chr1:144620428-144620478	HUVEC	blood vessel:	n/a
30	chr1:144692074-144692124	HL-60	blood:	n/a
31	chr1:144892566-144892616	HL-60	blood:	n/a
32	chr1:144815915-144815965	T-47D	breast:	n/a
33	chr1:144892566-144892616	PANC-1	pancreas:	n/a
34	chr1:144859929-144859979	NT2-D1	testis:	n/a
35	chr1:144692074-144692124	SK-N-SH	brain:	n/a
36	chr1:144815302-144815352	ProgFib	skin:	n/a
37	chr1:144913803-144913853	RPTEC	kidney:	n/a
38	chr1:144619354-144619404	PrEC	prostate:	n/a
39	chr1:144892111-144892161	BE2_C	brain:	n/a
40	chr1:144814628-144814678	HMEC	breast:	n/a
41	chr1:144852047-144852097	SKMC	muscle:	n/a
42	chr1:144892111-144892161	SK-N-SH_RA	brain:	n/a
43	chr1:144814628-144814678	Hela-S3	cervix:	n/a
44	chr1:144814628-144814678	SKMC	muscle:	n/a
45	chr1:144814628-144814678	HCPEpiC	choroid plexus:	n/a
46	chr1:144887235-144887285	HEK293	kidney:	embryo
47	chr1:144892111-144892161	GM19239	blood:	n/a
48	chr1:144913803-144913853	HUVEC	blood vessel:	n/a
49	chr1:144887235-144887285	HAEpiC	amniotic membrane:	n/a
50	chr1:144913803-144913853	HRCEpiC	kidney:	n/a

(count:87 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:144906087..144908086-chr1:144911253..144912912,2	K562	blood:
2	chr1:144894819..144897241-chr1:144898698..144901682,2	K562	blood:
3	chr1:144912771..144915909-chr1:144922533..144924963,5	MCF-7	breast:
4	chr1:144877869..144879998-chr1:144892579..144894748,2	MCF-7	breast:
5	chr1:144878185..144879777-chr1:144881889..144884530,2	MCF-7	breast:
6	chr1:144883229..144886021-chr1:146495313..146498284,2	MCF-7	breast:
7	chr1:144866768..144869173-chr1:144870721..144874864,3	K562	blood:
8	chr1:144913721..144916057-chr1:144919209..144920985,3	K562	blood:
9	chr1:144696978..144697597-chr1:144972550..144973477,2	MCF-7	breast:
10	chr1:17046027..17047625-chr1:144886603..144888109,2	MCF-7	breast:
11	chr1:144870185..144872708-chr1:149042100..149043905,2	MCF-7	breast:
12	chr1:144866177..144868496-chr1:144870721..144873668,3	K562	blood:
13	chr1:144881667..144883836-chr1:144885018..144890367,4	K562	blood:
14	chr1:144912771..144915909-chr1:144922533..144924963,5	MCF-7	breast:
15	chr1:144873922..144875453-chr1:144885951..144887655,2	MCF-7	breast:
16	chr1:144894819..144897241-chr1:144898698..144901682,2	K562	blood:
17	chr1:144887488..144889062-chr1:144895977..144898603,2	MCF-7	breast:
18	chr1:17045982..17048017-chr1:144885102..144888081,2	K562	blood:
19	chr1:144892597..144895392-chr11:118795022..118797131,2	MCF-7	breast:
20	chr1:144856713..144858353-chr1:144872499..144875477,2	K562	blood:
21	chr1:144869766..144871814-chr1:144872899..144874781,2	MCF-7	breast:
22	chr1:144895702..144897735-chr1:144904870..144906981,2	MCF-7	breast:
23	chr1:144892599..144896749-chr1:144930798..144933879,5	MCF-7	breast:
24	chr1:144863488..144865055-chr1:144865799..144868536,2	K562	blood:
25	chr1:144923461..144926279-chr1:144929594..144932453,4	K562	blood:
26	chr1:144917778..144918636-chr1:147553160..147554160,3	MCF-7	breast:
27	chr1:144853163..144855008-chr1:144856698..144858225,2	K562	blood:
28	chr1:144917990..144918581-chr1:145061611..145062219,2	MCF-7	breast:
29	chr1:144877869..144879998-chr1:144892579..144894748,2	MCF-7	breast:
30	chr1:144919025..144921038-chr1:145058900..145061668,2	K562	blood:
31	chr1:144861814..144863936-chr1:144885385..144887357,2	MCF-7	breast:
32	chr1:144895504..144897115-chr1:144905432..144907751,3	K562	blood:
33	chr1:144853163..144855008-chr1:144856698..144858225,2	K562	blood:
34	chr1:144861786..144864624-chr1:144881141..144883484,2	MCF-7	breast:
35	chr1:144891214..144893695-chr1:144896100..144898968,2	MCF-7	breast:
36	chr1:144859042..144861669-chr1:144863845..144865437,2	MCF-7	breast:
37	chr1:144891477..144893654-chr1:144895299..144897580,2	K562	blood:
38	chr1:144858012..144861709-chr1:144865100..144867014,3	K562	blood:
39	chr1:144917532..144918295-chr20:53090253..53091159,2	MCF-7	breast:
40	chr1:144888141..144890870-chr1:145070504..145072082,2	K562	blood:
41	chr1:144856713..144858353-chr1:144872499..144875477,2	K562	blood:
42	chr1:144891214..144893695-chr1:144896100..144898968,2	MCF-7	breast:
43	chr1:144895504..144897115-chr1:144905432..144907751,3	K562	blood:
44	chr1:144858037..144860054-chr1:144867098..144869572,2	K562	blood:
45	chr1:144913721..144916057-chr1:144919209..144920985,3	K562	blood:
46	chr1:144889740..144892703-chr1:146500075..146502138,3	MCF-7	breast:
47	chr1:144861814..144863936-chr1:144885385..144887357,2	MCF-7	breast:
48	chr1:144886541..144889030-chr1:144932018..144933743,3	MCF-7	breast:
49	chr1:144869766..144871814-chr1:144872899..144874781,2	MCF-7	breast:
50	chr1:144867331..144870453-chr1:144870555..144873293,3	MCF-7	breast:

(count:105 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL592284.1-1	chr1:144815936-144816008	NR_102404
2	lnc-AL592284.1-1	chr1:144621447-144621656	ENSG00000225241
3	lnc-PDE4DIP-2	chr1:144837813-144837850	NONHSAT005844
4	lnc-AL592284.1-1	chr1:144824705-144824756	NR_102404
5	lnc-AL592284.1-1	chr1:144618082-144618296	ENSG00000225241
6	lnc-AL592284.1-1	chr1:144617150-144617252	NR_102404
7	lnc-PDE4DIP-3	chr1:144833913-144834808	NONHSAT005843
8	lnc-AL592284.1-1	chr1:144619347-144619419	ENSG00000225241
9	lnc-AL592284.1-1	chr1:144619347-144619419	ENSG00000225241
10	lnc-AL592284.1-1	chr1:144619883-144620094	ENSG00000225241
11	lnc-AL592284.1-1	chr1:144619347-144619419	ENSG00000225241
12	lnc-AL592284.1-1	chr1:144617150-144617252	ENSG00000225241
13	lnc-PDE4DIP-2	chr1:144853219-144853294	NONHSAT005852
14	lnc-AL592284.1-1	chr1:144813742-144813844	NR_102404
15	lnc-AL592284.1-1	chr1:144814560-144814894	NONHSAT005837
16	lnc-AL592284.1-1	chr1:144618082-144618296	ENSG00000225241
17	lnc-AL592284.1-1	chr1:144619347-144619419	NR_102405
18	lnc-AL592284.1-1	chr1:144823813-144823985	NR_102404
19	lnc-AL592284.1-1	chr1:144619883-144620094	ENSG00000225241
20	lnc-AL592284.1-1	chr1:144621447-144621655	ENSG00000225241
21	lnc-AL592284.1-1	chr1:144618082-144618296	ENSG00000225241
22	lnc-AL592284.1-1	chr1:144617150-144617252	ENSG00000225241
23	lnc-AL592284.1-1	chr1:144815936-144816049	NONHSAT005837
24	lnc-PDE4DIP-1	chr1:144833047-144833912	NONHSAT005841
25	lnc-AL592284.1-1	chr1:144619347-144619419	ENSG00000225241
26	lnc-AL592284.1-1	chr1:144825353-144825525	NR_102404
27	lnc-PPIAL4B-8	chr1:144870338-144870459	NONHSAT005850
28	lnc-AL592284.1-1	chr1:144814680-144814894	NR_102404
29	lnc-PDE4DIP-2	chr1:144852394-144852925	NONHSAT005849
30	lnc-PDE4DIP-2	chr1:144837129-144837429	NONHSAT005846
31	lnc-AL592284.1-1	chr1:144618082-144618296	ENSG00000225241
32	lnc-AL592284.1-1	chr1:144618082-144618296	NR_102405
33	lnc-PDE4DIP-1	chr1:144833168-144833621	ENSG00000254539.1
34	lnc-AL592284.1-1	chr1:144618082-144618296	NR_102404
35	lnc-NBPF9-1	chr1:144865739-144865800	ENSG00000255148.1
36	lnc-AL592284.1-1	chr1:144824705-144824756	NR_102405
37	lnc-AL592284.1-1	chr1:144617150-144617252	ENSG00000225241
38	lnc-PPIAL4B-6	chr1:144859759-144860234	NONHSAT005854
39	lnc-AL592284.1-1	chr1:144825353-144825525	NR_102405
40	lnc-AL592284.1-1	chr1:144618082-144618296	ENSG00000225241
41	lnc-PDE4DIP-2	chr1:144836385-144836558	NONHSAT005846
42	lnc-PPIAL4B-8	chr1:144847426-144847494	NONHSAT005850
43	lnc-AL592284.1-1	chr1:144827820-144827928	NR_102404
44	lnc-NBPF9-2	chr1:144877226-144877296	ENSG00000254913.1
45	lnc-NBPF9-1	chr1:144858211-144858781	ENSG00000255148.1
46	lnc-PPIAL4B-8	chr1:144841842-144841896	NONHSAT005850
47	lnc-AL592284.1-1	chr1:144619883-144620039	ENSG00000225241
48	lnc-AL592284.1-1	chr1:144817966-144818017	NR_102404
49	lnc-AL592284.1-1	chr1:144621447-144621656	NR_102405
50	lnc-NBPF9-2	chr1:144874945-144874987	ENSG00000254913.1

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
PFN1P2	TF binding region
PDE4DIP	TF binding region
ENSG00000266739	TF binding region
NBPF9	TF binding region
ENSG00000225241	TF binding region
ENSG00000255148	TF binding region
ENSG00000254913	TF binding region
ENSG00000215861	TF binding region
ENSG00000254539	TF binding region
PFN1P2	CpG island
PDE4DIP	CpG island
ENSG00000266739	CpG island
NBPF9	CpG island
ENSG00000225241	CpG island
ENSG00000255148	CpG island
ENSG00000254913	CpG island
ENSG00000215861	CpG island
ENSG00000254539	CpG island
ENSG00000254913	chromatin interactions
ENSG00000268869	chromatin interactions
ENSG00000255148	chromatin interactions
ENSG00000266739	chromatin interactions
ENSG00000252656	chromatin interactions
ENSG00000110375	chromatin interactions
ENSG00000186174	chromatin interactions
ENSG00000178104	chromatin interactions

Extended variants
information (count: 7589 )
Associated
traits (count: 169 )

Variant overlapped rSNPs/rCNVs (count:7589 , 50 per page) page: 1 2 3 4 5 6 7 ... 152

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12059286	chr1:144617179-144617180	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189167856	chr1:144617198-144617199	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs191360861	chr1:144617208-144617209	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs374488746	chr1:144617232-144617233	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs12057989	chr1:144617251-144617252	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs587608578	chr1:144617255-144617256	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs4067689	chr1:144617262-144617263	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs115521649	chr1:144617263-144617264	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs587746426	chr1:144617264-144617265	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs200194659	chr1:144617265-144617266	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs587647715	chr1:144617266-144617267	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs79609511	chr1:144617268-144617269	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs183660878	chr1:144617270-144617271	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs587773130	chr1:144617282-144617283	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs587678398	chr1:144617284-144617285	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs587703708	chr1:144617291-144617292	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs587765634	chr1:144617316-144617317	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs186879735	chr1:144617319-144617320	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs587722887	chr1:144617320-144617321	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs4067691	chr1:144617335-144617336	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs587597236	chr1:144617346-144617347	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs587671639	chr1:144617349-144617350	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs11589334	chr1:144617351-144617352	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs587706116	chr1:144617352-144617353	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs587605131	chr1:144617355-144617356	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs587664560	chr1:144617360-144617361	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs587738107	chr1:144617366-144617367	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs4067692	chr1:144617371-144617372	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs200211065	chr1:144617382-144617383	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs113034203	chr1:144617387-144617388	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs587665910	chr1:144617392-144617393	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs111786263	chr1:144617401-144617402	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs587766679	chr1:144617406-144617407	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs367783033	chr1:144617410-144617411	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs4067693	chr1:144617425-144617426	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs587639899	chr1:144617432-144617433	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs113144585	chr1:144617442-144617443	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs587719585	chr1:144617447-144617448	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs587772159	chr1:144617462-144617463	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs587655898	chr1:144617463-144617464	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs28600277	chr1:144617482-144617483	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs587690368	chr1:144617491-144617492	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs587764938	chr1:144617495-144617496	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs587644363	chr1:144617507-144617508	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs587689300	chr1:144617513-144617514	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs372113763	chr1:144617528-144617529	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs11590827	chr1:144617529-144617530	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs587648835	chr1:144617542-144617543	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs11576420	chr1:144617546-144617547	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs11590839	chr1:144617564-144617565	Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:169)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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:3812 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144594600-144621200	Weak transcription	Gastric	stomach
2	chr1:144594600-144622000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:144594600-144622000	Weak transcription	Placenta	Placenta
4	chr1:144594800-144618000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:144594800-144618000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:144594800-144618000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:144594800-144618000	Weak transcription	Adipose Nuclei	Adipose
8	chr1:144594800-144619400	Weak transcription	Aorta	Aorta
9	chr1:144594800-144620000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:144594800-144620200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:144594800-144620600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:144594800-144621200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:144594800-144621200	Weak transcription	Fetal Lung	lung
14	chr1:144594800-144621200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:144594800-144621400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:144594800-144621400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:144594800-144621600	Weak transcription	HSMM	muscle
18	chr1:144594800-144621800	Weak transcription	Brain Germinal Matrix	brain
19	chr1:144594800-144621800	Weak transcription	HSMMtube	muscle
20	chr1:144594800-144622000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:144594800-144622000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:144594800-144623400	Weak transcription	Primary T cells from cord blood	blood
23	chr1:144594800-144623400	Weak transcription	HUVEC	blood vessel
24	chr1:144594800-144624000	Weak transcription	Right Ventricle	heart
25	chr1:144595800-144623200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:144596200-144618200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr1:144596200-144621400	Weak transcription	Pancreas	Pancrea
28	chr1:144596400-144622000	Weak transcription	NH-A	brain
29	chr1:144598800-144621400	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:144598800-144623600	Weak transcription	Hela-S3	cervix
31	chr1:144599000-144621200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:144599200-144621600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:144599400-144618000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:144599400-144618000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:144599400-144618200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:144599400-144619400	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:144599400-144619400	Weak transcription	Osteobl	bone
38	chr1:144599400-144619600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:144599400-144620400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:144599400-144621600	Weak transcription	HMEC	breast
41	chr1:144599400-144621800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:144599400-144622000	Weak transcription	Fetal Stomach	stomach
43	chr1:144599400-144623400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:144599600-144618400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:144599800-144623800	Weak transcription	Fetal Intestine Small	intestine
46	chr1:144600000-144618000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:144600000-144620200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:144600800-144617200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:144601400-144618600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:144601600-144618000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links