Variant report

Variant	nsv947175
Chromosome Location	chr1:9996275-10009860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:982)
CpG islands
(count:856)
Chromatin interactive
region (count:49)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:982 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:10002423-10002764	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:10003106-10003730	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:10003377-10003704	K562	blood:	n/a	n/a
4	ATF1	chr1:10002445-10003796	K562	blood:	n/a	n/a
5	ATF2	chr1:10003057-10003921	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr1:10002931-10003728	GM12878	blood:	n/a	n/a
7	ATF2	chr1:10003018-10003991	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr1:10002341-10003870	GM12878	blood:	n/a	n/a
9	ATF3	chr1:10003242-10003747	A549	lung:	n/a	n/a
10	ATF3	chr1:10003188-10003717	A549	lung:	n/a	n/a
11	BACH1	chr1:10003265-10003754	K562	blood:	n/a	n/a
12	BACH1	chr1:10003124-10003578	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr1:10003180-10003645	GM12878	blood:	n/a	n/a
14	BCL11A	chr1:10003257-10003623	GM12878	blood:	n/a	chr1:10003443-10003452 chr1:10003341-10003350 chr1:10003462-10003471
15	BCL3	chr1:10003047-10003713	GM12878	blood:	n/a	chr1:10003443-10003452 chr1:10003223-10003236 chr1:10003341-10003350 chr1:10003462-10003471 chr1:10003222-10003235
16	BCL3	chr1:10003147-10003747	A549	lung:	n/a	chr1:10003443-10003452 chr1:10003223-10003236 chr1:10003341-10003350 chr1:10003462-10003471 chr1:10003222-10003235
17	BCL3	chr1:10003051-10003824	A549	lung:	n/a	chr1:10003443-10003452 chr1:10003223-10003236 chr1:10003341-10003350 chr1:10003462-10003471 chr1:10003222-10003235
18	BCLAF1	chr1:10003062-10003870	K562	blood:	n/a	chr1:10003443-10003452 chr1:10003223-10003236 chr1:10003341-10003350 chr1:10003462-10003471 chr1:10003222-10003235
19	BCLAF1	chr1:10002907-10003758	GM12878	blood:	n/a	chr1:10003443-10003452 chr1:10003223-10003236 chr1:10003341-10003350 chr1:10003462-10003471 chr1:10003222-10003235
20	BCLAF1	chr1:10002854-10003741	GM12878	blood:	n/a	chr1:10003443-10003452 chr1:10003223-10003236 chr1:10003341-10003350 chr1:10003462-10003471 chr1:10003222-10003235
21	BCLAF1	chr1:10002340-10002838	GM12878	blood:	n/a	chr1:10002654-10002663
22	BCLAF1	chr1:10003119-10003868	K562	blood:	n/a	chr1:10003443-10003452 chr1:10003223-10003236 chr1:10003341-10003350 chr1:10003462-10003471 chr1:10003222-10003235
23	BHLHE40	chr1:10002400-10003702	K562	blood:	n/a	n/a
24	BHLHE40	chr1:10002402-10002875	GM12878	blood:	n/a	n/a
25	BHLHE40	chr1:10003083-10003657	GM12878	blood:	n/a	n/a
26	BHLHE40	chr1:9996970-9997179	GM12878	blood:	n/a	n/a
27	BRCA1	chr1:10002534-10003807	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr1:10002990-10003670	HepG2	liver:	n/a	n/a
29	BRCA1	chr1:10002505-10003713	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr1:10002976-10003614	GM12878	blood:	n/a	n/a
31	CBX3	chr1:10002304-10003822	K562	blood:	n/a	n/a
32	CBX3	chr1:10003248-10003759	K562	blood:	n/a	n/a
33	CCNT2	chr1:10003169-10003679	K562	blood:	n/a	n/a
34	CEBPB	chr1:10003104-10003677	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr1:10003321-10003555	GM12878	blood:	n/a	n/a
36	CEBPB	chr1:10006639-10006755	HepG2	liver:	n/a	chr1:10006681-10006692
37	CEBPB	chr1:10003477-10003669	K562	blood:	n/a	n/a
38	CEBPB	chr1:10003279-10003759	K562	blood:	n/a	n/a
39	CEBPB	chr1:10003226-10003629	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr1:10003356-10003629	MCF-7	breast:	n/a	n/a
41	CEBPB	chr1:10003077-10003921	GM12878	blood:	n/a	n/a
42	CEBPD	chr1:10003307-10003700	HepG2	liver:	n/a	n/a
43	CEBPD	chr1:10003198-10003698	HepG2	liver:	n/a	n/a
44	CEBPD	chr1:10003248-10003807	K562	blood:	n/a	n/a
45	CHD1	chr1:10003321-10003771	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD1	chr1:10002444-10002993	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr1:10002406-10003910	GM12878	blood:	n/a	n/a
48	CHD2	chr1:10002504-10002680	GM12878	blood:	n/a	n/a
49	CHD2	chr1:10002511-10003724	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr1:10002939-10003765	GM12878	blood:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:10001911-10001961	U87	brain:	n/a
2	chr1:10002719-10002769	NB4	blood:	n/a
3	chr1:10001911-10001961	U87	brain:	n/a
4	chr1:10002719-10002769	NB4	blood:	n/a
5	chr1:10002969-10003019	HCM	heart:	n/a
6	chr1:10003340-10003390	NB4	blood:	n/a
7	chr1:10003059-10003109	RPTEC	kidney:	n/a
8	chr1:10003572-10003622	AG09319	gingival:	n/a
9	chr1:9999765-9999815	AG09319	gingival:	n/a
10	chr1:10001911-10001961	MCF10A-Er-Src	breast:	n/a
11	chr1:10003340-10003390	HCT-116	colon:	n/a
12	chr1:10001911-10001961	MCF-7	breast:	n/a
13	chr1:10003340-10003390	GM19239	blood:	n/a
14	chr1:10001911-10001961	HCT-116	colon:	n/a
15	chr1:10003430-10003480	HRCEpiC	kidney:	n/a
16	chr1:10002719-10002769	NHDF-neo	bronchial:	n/a
17	chr1:10003173-10003223	HRPEpiC	eye:	n/a
18	chr1:10003340-10003390	CMK	blood:	n/a
19	chr1:10003430-10003480	HRE	kidney:	n/a
20	chr1:10003340-10003390	BJ	skin:	n/a
21	chr1:10002969-10003019	SKMC	muscle:	n/a
22	chr1:10003430-10003480	HCM	heart:	n/a
23	chr1:10003572-10003622	GM12891	blood:	n/a
24	chr1:10002719-10002769	PFSK-1	brain:	n/a
25	chr1:10002828-10002878	CMK	blood:	n/a
26	chr1:10002719-10002769	HCF	heart:	n/a
27	chr1:10002945-10002995	ovcar-3	ovarian:	n/a
28	chr1:10003572-10003622	RPTEC	kidney:	n/a
29	chr1:10003059-10003109	A549	lung:	n/a
30	chr1:10003460-10003510	GM06990	blood:	n/a
31	chr1:10003298-10003348	AG04449	skin:	fetal
32	chr1:10003572-10003622	GM19239	blood:	n/a
33	chr1:10003173-10003223	HNPCEpiC	eye:	n/a
34	chr1:10003752-10003802	ovcar-3	ovarian:	n/a
35	chr1:10003460-10003510	MCF10A-Er-Src	breast:	n/a
36	chr1:10002719-10002769	HEEpiC	esophagus:	n/a
37	chr1:10002719-10002769	BJ	skin:	n/a
38	chr1:9999765-9999815	Caco-2	colon:	n/a
39	chr1:10003173-10003223	SKMC	muscle:	n/a
40	chr1:9999765-9999815	GM12891	blood:	n/a
41	chr1:10003298-10003348	HMEC	breast:	n/a
42	chr1:10002719-10002769	ProgFib	skin:	n/a
43	chr1:10003572-10003622	HPAEpiC	pulmonary alveolar:	n/a
44	chr1:10002828-10002878	PrEC	prostate:	n/a
45	chr1:10003460-10003510	PFSK-1	brain:	n/a
46	chr1:9999765-9999815	HCPEpiC	choroid plexus:	n/a
47	chr1:10001911-10001961	Hela-S3	cervix:	n/a
48	chr1:10003059-10003109	HCPEpiC	choroid plexus:	n/a
49	chr1:10002719-10002769	T-47D	breast:	n/a
50	chr1:10002945-10002995	CMK	blood:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10003084..10004012-chr8:142011235..142011995,2	Hela-S3	cervix:
2	chr1:10003032..10004962-chr1:10118663..10120416,2	MCF-7	breast:
3	chr1:9969199..9972073-chr1:10003014..10005092,3	MCF-7	breast:
4	chr1:9943715..9945341-chr1:9996740..9998512,2	K562	blood:
5	chr1:10001294..10005828-chr1:10093316..10096471,4	K562	blood:
6	chr1:10002451..10004704-chr1:10005139..10006714,2	MCF-7	breast:
7	chr1:9991529..9996345-chr1:10001160..10004231,6	K562	blood:
8	chr1:10002308..10002961-chr1:10092373..10092897,2	MCF-7	breast:
9	chr1:10003116..10003952-chr14:50234845..50235942,3	Hela-S3	cervix:
10	chr1:10002941..10003874-chr1:110091079..110091618,2	Hela-S3	cervix:
11	chr1:10002061..10004916-chr1:10091716..10094596,6	MCF-7	breast:
12	chr1:10002980..10003568-chr19:3984706..3985527,2	Hela-S3	cervix:
13	chr1:9969786..9972785-chr1:9998354..10000528,2	K562	blood:
14	chr1:10001502..10006445-chr1:10090966..10096976,9	MCF-7	breast:
15	chr1:9969188..9972816-chr1:10001560..10005397,4	MCF-7	breast:
16	chr1:9991529..9996345-chr1:10001160..10004231,6	K562	blood:
17	chr1:10003168..10003873-chr16:2802410..2802956,2	Hela-S3	cervix:
18	chr1:10001846..10004168-chr1:10458912..10460649,2	K562	blood:
19	chr1:10009350..10011460-chr1:10068351..10069869,2	K562	blood:
20	chr1:10002125..10006916-chr1:10090169..10095056,10	K562	blood:
21	chr1:10003092..10003603-chr16:2013784..2014672,2	Hela-S3	cervix:
22	chr1:10002901..10003432-chr12:498459..499050,2	Hela-S3	cervix:
23	chr1:9946281..9947867-chr1:10004858..10007220,2	K562	blood:
24	chr1:10003043..10003645-chr8:118532895..118533881,2	Hela-S3	cervix:
25	chr1:9968743..9971464-chr1:10005230..10007264,2	MCF-7	breast:
26	chr1:9969022..9974825-chr1:10002123..10006220,12	K562	blood:
27	chr1:10002756..10003923-chr1:10092230..10093198,5	K562	blood:
28	chr1:10008967..10010504-chr1:10091583..10094511,2	MCF-7	breast:
29	chr1:9935077..9935640-chr1:10002076..10002815,2	MCF-7	breast:
30	chr1:10009323..10011578-chr1:10096303..10099000,2	MCF-7	breast:
31	chr1:10003460..10004037-chr10:71992754..71993389,2	NB4	blood:
32	chr1:9992820..9997928-chr1:9999758..10004449,8	K562	blood:
33	chr1:9992820..9997928-chr1:9999758..10004449,8	K562	blood:
34	chr1:10009468..10012009-chr1:10018654..10021337,2	MCF-7	breast:
35	chr1:9923513..9926464-chr1:9996887..9999846,2	K562	blood:
36	chr1:9998207..10001225-chr1:10001288..10004124,5	MCF-7	breast:
37	chr1:10008573..10013502-chr1:10090291..10096219,9	MCF-7	breast:
38	chr1:9881807..9884566-chr1:10002965..10004897,2	K562	blood:
39	chr1:9988737..9991346-chr1:10009208..10011504,2	K562	blood:
40	chr1:9881807..9884566-chr1:10002290..10004897,3	K562	blood:
41	chr1:9884569..9887155-chr1:10002902..10004455,2	K562	blood:
42	chr1:9968043..9973723-chr1:10001891..10008599,10	K562	blood:
43	chr1:10002778..10003716-chr6:44214630..44215373,2	Hela-S3	cervix:
44	chr1:10002273..10004549-chr1:10490535..10492203,2	MCF-7	breast:
45	chr1:10006856..10008883-chr1:10008961..10010620,2	K562	blood:
46	chr1:9979462..9981194-chr1:9999339..10001219,2	K562	blood:
47	chr1:10002086..10005062-chr1:10091281..10093134,5	K562	blood:
48	chr1:9598357..9600468-chr1:9996244..9998759,2	K562	blood:
49	chr1:10003059..10003915-chr14:61189613..61190275,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NMNAT1-1	chr1:10009696-10010032	ENSG00000228150.1
2	lnc-NMNAT1-1	chr1:10002981-10003083	ENSG00000228150.1
3	lnc-RBP7-3	chr1:10007376-10007694	NONHSAT000831

No data

Variant related genes	Relation type
RN7SKP269	TF binding region
NMNAT1	TF binding region
ENSG00000228150	TF binding region
LZIC	TF binding region
RN7SKP269	CpG island
NMNAT1	CpG island
ENSG00000228150	CpG island
LZIC	CpG island
ENSG00000100625	chromatin interactions
ENSG00000233623	chromatin interactions
ENSG00000142657	chromatin interactions
ENSG00000228150	chromatin interactions
ENSG00000251503	chromatin interactions
ENSG00000171612	chromatin interactions
ENSG00000065135	chromatin interactions
ENSG00000271989	chromatin interactions
ENSG00000202415	chromatin interactions
ENSG00000165516	chromatin interactions
ENSG00000120647	chromatin interactions
ENSG00000169398	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000162441	chromatin interactions
ENSG00000073614	chromatin interactions
ENSG00000130939	chromatin interactions
ENSG00000167658	chromatin interactions
ENSG00000180817	chromatin interactions
ENSG00000167978	chromatin interactions
ENSG00000164758	chromatin interactions
ENSG00000205913	chromatin interactions
ENSG00000178585	chromatin interactions
ENSG00000255513	chromatin interactions
ENSG00000171603	chromatin interactions
ENSG00000140988	chromatin interactions
ENSG00000173614	chromatin interactions
ENSG00000175279	chromatin interactions

Extended variants
information (count: 449 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186910129	chr1:9996352-9996353	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs560887725	chr1:9996378-9996379	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs192388193	chr1:9996397-9996398	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs549511552	chr1:9996481-9996482	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs573466211	chr1:9996503-9996504	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs574856144	chr1:9996510-9996511	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs534800720	chr1:9996531-9996532	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs370696767	chr1:9996538-9996539	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs553019364	chr1:9996550-9996551	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs531404657	chr1:9996576-9996577	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs199633051	chr1:9996684-9996685	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs12065908	chr1:9996707-9996708	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs376352638	chr1:9996715-9996716	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs370783382	chr1:9996716-9996717	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs545919116	chr1:9996718-9996719	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs571249731	chr1:9996737-9996738	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs34101989	chr1:9996744-9996745	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs72858100	chr1:9996798-9996799	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566006835	chr1:9996802-9996803	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs536165631	chr1:9996850-9996851	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs554703845	chr1:9996913-9996914	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs575854283	chr1:9996918-9996919	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs184631044	chr1:9996955-9996956	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs374039913	chr1:9996956-9996957	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs111295471	chr1:9996960-9996961	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs576613884	chr1:9997044-9997045	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs189094732	chr1:9997057-9997058	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs1220400	chr1:9997079-9997080	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs545040697	chr1:9997143-9997144	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs144583335	chr1:9997227-9997228	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs138382127	chr1:9997258-9997259	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs193297222	chr1:9997267-9997268	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs149312730	chr1:9997373-9997374	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs184866473	chr1:9997374-9997375	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs549882058	chr1:9997375-9997376	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs541593191	chr1:9997407-9997408	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs559834480	chr1:9997430-9997431	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs375905214	chr1:9997473-9997474	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs189102007	chr1:9997543-9997544	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs4845912	chr1:9997559-9997560	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs374140215	chr1:9997570-9997571	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs550961842	chr1:9997583-9997584	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs372488618	chr1:9997638-9997639	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs114510920	chr1:9997654-9997655	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs181439303	chr1:9997689-9997690	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs185781930	chr1:9997696-9997697	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs112830671	chr1:9997720-9997721	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs113522002	chr1:9997780-9997781	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs536891484	chr1:9997798-9997799	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs369493184	chr1:9997840-9997841	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	22522925	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Neuroblastoma	19638189	CNVD

Chromatin state (count:928 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9971400-10002000	Weak transcription	Small Intestine	intestine
2	chr1:9972600-10002200	Weak transcription	Right Atrium	heart
3	chr1:9975200-10002600	Weak transcription	Stomach Mucosa	stomach
4	chr1:9983200-10002200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:9983200-10002400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:9983600-10002400	Weak transcription	Fetal Heart	heart
7	chr1:9983600-10002400	Weak transcription	Right Ventricle	heart
8	chr1:9984000-10002200	Weak transcription	HMEC	breast
9	chr1:9984600-9996400	Weak transcription	NHDF-Ad	bronchial
10	chr1:9984600-10002600	Weak transcription	Esophagus	oesophagus
11	chr1:9986600-9996800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:9986800-10000200	Strong transcription	Primary T cells from cord blood	blood
13	chr1:9987000-9996800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:9987000-10002200	Weak transcription	Fetal Brain Male	brain
15	chr1:9987200-9997200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:9987200-10002200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:9987400-10000400	Strong transcription	Fetal Stomach	stomach
18	chr1:9987400-10002000	Weak transcription	Colonic Mucosa	Colon
19	chr1:9987600-9999400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:9987800-9996400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:9987800-9996600	Strong transcription	Adipose Nuclei	Adipose
22	chr1:9987800-9996600	Strong transcription	Liver	Liver
23	chr1:9987800-10002200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:9988000-9996600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr1:9988000-9998600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:9988000-10002000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:9988200-9996600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr1:9988200-10002400	Weak transcription	NHLF	lung
29	chr1:9988400-9996600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:9988400-9996600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:9988400-9996800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr1:9988400-9997000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:9988400-9997000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr1:9988400-10000200	Strong transcription	Fetal Muscle Leg	muscle
35	chr1:9988400-10001600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:9988400-10002000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr1:9988400-10002200	Weak transcription	HUVEC	blood vessel
38	chr1:9988600-9996600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr1:9988600-9996600	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:9988600-9996600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr1:9988600-9996800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:9988600-9996800	Strong transcription	Fetal Thymus	thymus
43	chr1:9988600-9996800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:9988600-9996800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr1:9988600-9997200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:9988600-9997200	Strong transcription	Thymus	Thymus
47	chr1:9989000-9996800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:9989000-9996800	Strong transcription	Placenta	Placenta
49	chr1:9989000-9998200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:9989200-9998000	Strong transcription	Primary monocytes fromperipheralblood	blood

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