Variant report

Variant	nsv872456
Chromosome Location	chr1:155028692-155035611
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:844)
CpG islands
(count:611)
Chromatin interactive
region (count:47)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:844 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:155034032-155034259	HepG2	liver:	n/a	n/a
2	ATF2	chr1:155033901-155034286	GM12878	blood:	n/a	n/a
3	ATF2	chr1:155033940-155034350	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr1:155033832-155034362	A549	lung:	n/a	n/a
5	BACH1	chr1:155035282-155035564	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr1:155034027-155034306	GM12878	blood:	n/a	n/a
7	BCL3	chr1:155033839-155034518	A549	lung:	n/a	n/a
8	BCL3	chr1:155035137-155036478	A549	lung:	n/a	chr1:155035589-155035598 chr1:155035586-155035595 chr1:155035536-155035545
9	BHLHE40	chr1:155033989-155034351	GM12878	blood:	n/a	n/a
10	BHLHE40	chr1:155035068-155035484	K562	blood:	n/a	n/a
11	BHLHE40	chr1:155035150-155035457	GM12878	blood:	n/a	n/a
12	BHLHE40	chr1:155033977-155034314	K562	blood:	n/a	n/a
13	BRCA1	chr1:155034020-155034325	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr1:155034049-155034220	HepG2	liver:	n/a	n/a
15	CBX3	chr1:155033931-155034408	K562	blood:	n/a	n/a
16	CBX3	chr1:155035076-155035482	K562	blood:	n/a	n/a
17	CEBPB	chr1:155033876-155034473	GM12878	blood:	n/a	n/a
18	CEBPB	chr1:155034044-155034272	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr1:155034098-155034316	Hela-S3	cervix:	n/a	n/a
20	CHD1	chr1:155035015-155037233	IMR90	lung:	n/a	chr1:155036566-155036576 chr1:155036559-155036569 chr1:155036552-155036562
21	CHD1	chr1:155033930-155034584	IMR90	lung:	n/a	n/a
22	CHD2	chr1:155034051-155034288	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr1:155034004-155034319	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr1:155035226-155035470	GM12878	blood:	n/a	n/a
25	CHD2	chr1:155034108-155034268	HepG2	liver:	n/a	n/a
26	CHD2	chr1:155035348-155035419	HepG2	liver:	n/a	n/a
27	CREB1	chr1:155035120-155035491	A549	lung:	n/a	n/a
28	CTBP2	chr1:155034645-155035777	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr1:155030460-155030610	GM12865	blood:	n/a	n/a
30	CTCF	chr1:155035192-155035421	ProgFib	skin:	n/a	chr1:155035307-155035325
31	CTCF	chr1:155035200-155035350	GM12872	blood:	n/a	chr1:155035307-155035325
32	CTCF	chr1:155033948-155034470	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr1:155034820-155034970	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr1:155034780-155034930	HMEC	breast:	n/a	n/a
35	CTCF	chr1:155034969-155035126	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr1:155035240-155035390	GM12868	blood:	n/a	chr1:155035307-155035325
37	CTCF	chr1:155035240-155035390	HCPEpiC	choroid plexus:	n/a	chr1:155035307-155035325
38	CTCF	chr1:155035280-155035430	HFF	foreskin:	n/a	chr1:155035307-155035325
39	CTCF	chr1:155033917-155034344	K562	blood:	n/a	n/a
40	CTCF	chr1:155034040-155034190	WI-38	lung:	n/a	n/a
41	CTCF	chr1:155035260-155035410	MCF-7	breast:	n/a	chr1:155035307-155035325
42	CTCF	chr1:155034960-155035110	A549	lung:	n/a	n/a
43	CTCF	chr1:155034100-155034250	BE2_C	brain:	n/a	n/a
44	CTCF	chr1:155035088-155035519	K562	blood:	n/a	chr1:155035307-155035325
45	CTCF	chr1:155034080-155034230	GM12878	blood:	n/a	n/a
46	CTCF	chr1:155034437-155035138	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr1:155034720-155034870	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr1:155034100-155034250	GM12873	blood:	n/a	n/a
49	CTCF	chr1:155035159-155035499	GM19239	blood:	n/a	chr1:155035307-155035325
50	CTCF	chr1:155030560-155030710	NHDF-neo	bronchial:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155035008-155035058	MCF-7	breast:	n/a
2	chr1:155035008-155035058	MCF-7	breast:	n/a
3	chr1:155030096-155030146	SAEC	small airway:	n/a
4	chr1:155030096-155030146	BE2_C	brain:	n/a
5	chr1:155031240-155031290	AG04450	lung:	fetal
6	chr1:155030594-155030644	AG10803	skin:	n/a
7	chr1:155031240-155031290	Hela-S3	cervix:	n/a
8	chr1:155030594-155030644	K562	blood:	n/a
9	chr1:155035008-155035058	BJ	skin:	n/a
10	chr1:155029748-155029798	AG10803	skin:	n/a
11	chr1:155030594-155030644	GM12878	blood:	n/a
12	chr1:155031240-155031290	HPAEpiC	pulmonary alveolar:	n/a
13	chr1:155031240-155031290	U87	brain:	n/a
14	chr1:155035183-155035233	AG09309	skin:	n/a
15	chr1:155030096-155030146	BJ	skin:	n/a
16	chr1:155030096-155030146	HNPCEpiC	eye:	n/a
17	chr1:155029748-155029798	AoSMC	blood vessel:	n/a
18	chr1:155035530-155035580	HAEpiC	amniotic membrane:	n/a
19	chr1:155035530-155035580	Caco-2	colon:	n/a
20	chr1:155035183-155035233	NHBE	bronchial:	n/a
21	chr1:155035388-155035438	HCPEpiC	choroid plexus:	n/a
22	chr1:155030096-155030146	ECC-1	luminal epithelium:	n/a
23	chr1:155029748-155029798	IMR90	lung:	fetal
24	chr1:155031240-155031290	IMR90	lung:	fetal
25	chr1:155035388-155035438	HAEpiC	amniotic membrane:	n/a
26	chr1:155035388-155035438	HIPEpiC	eye:	n/a
27	chr1:155035388-155035438	AG09309	skin:	n/a
28	chr1:155035183-155035233	HCM	heart:	n/a
29	chr1:155031240-155031290	K562	blood:	n/a
30	chr1:155030594-155030644	NHDF-neo	bronchial:	n/a
31	chr1:155035388-155035438	U87	brain:	n/a
32	chr1:155035183-155035233	MCF10A-Er-Src	breast:	n/a
33	chr1:155035388-155035438	ovcar-3	ovarian:	n/a
34	chr1:155035183-155035233	Hepatocyte	liver:	n/a
35	chr1:155030594-155030644	GM06990	blood:	n/a
36	chr1:155035008-155035058	HepG2	liver:	n/a
37	chr1:155035008-155035058	K562	blood:	n/a
38	chr1:155031240-155031290	AG04449	skin:	fetal
39	chr1:155030096-155030146	GM12892	blood:	n/a
40	chr1:155035388-155035438	AG04449	skin:	fetal
41	chr1:155035183-155035233	HRE	kidney:	n/a
42	chr1:155035375-155035425	NB4	blood:	n/a
43	chr1:155029748-155029798	NHBE	bronchial:	n/a
44	chr1:155030594-155030644	HRPEpiC	eye:	n/a
45	chr1:155035388-155035438	NH-A	brain:	n/a
46	chr1:155035375-155035425	BE2_C	brain:	n/a
47	chr1:155034570-155034620	H1-hESC	embryonic stem cell:	embryo
48	chr1:155030594-155030644	PFSK-1	brain:	n/a
49	chr1:155035375-155035425	U87	brain:	n/a
50	chr1:155030096-155030146	SKMC	muscle:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154990094..154990641-chr1:155030119..155030672,2	MCF-7	breast:
2	chr1:154878889..154879807-chr1:155033687..155034617,2	K562	blood:
3	chr1:155034862..155035730-chr1:155140353..155140934,2	MCF-7	breast:
4	chr1:155017179..155018121-chr1:155033686..155034594,8	MCF-7	breast:
5	chr1:154964932..154968514-chr1:155033457..155035305,3	K562	blood:
6	chr1:154908713..154910557-chr1:155032303..155034913,2	MCF-7	breast:
7	chr1:155013927..155032770-chr1:155044175..155061131,53	MCF-7	breast:
8	chr1:155033847..155038699-chr1:155096296..155100742,10	MCF-7	breast:
9	chr1:154944693..154948498-chr1:155033358..155037574,5	K562	blood:
10	chr1:154908789..154910425-chr1:155034251..155037160,2	K562	blood:
11	chr1:155034120..155034643-chr1:155057623..155058276,2	K562	blood:
12	chr1:155023672..155024298-chr1:155033678..155034413,2	K562	blood:
13	chr1:154941423..154943081-chr1:155031851..155033563,2	K562	blood:
14	chr1:155034968..155037453-chr1:155166180..155167789,2	MCF-7	breast:
15	chr1:154971009..154978300-chr1:155033602..155036845,7	K562	blood:
16	chr1:154971124..154975632-chr1:155030158..155034057,4	K562	blood:
17	chr1:154971544..154972276-chr1:155033973..155034509,2	MCF-7	breast:
18	chr1:154532080..154532611-chr1:155033694..155034624,3	K562	blood:
19	chr1:154946217..154947024-chr1:155034138..155034762,2	K562	blood:
20	chr1:155024729..155025657-chr1:155033711..155034586,6	MCF-7	breast:
21	chr1:154529028..154532359-chr1:155034427..155037689,4	MCF-7	breast:
22	chr1:154943492..154949367-chr1:155033837..155038035,9	MCF-7	breast:
23	chr1:155034804..155037518-chr1:155055135..155058799,58	K562	blood:
24	chr1:154945666..154948498-chr1:155033358..155037574,4	K562	blood:
25	chr1:154933980..154934779-chr1:155033787..155034288,2	MCF-7	breast:
26	chr1:155022697..155023521-chr1:155033673..155034217,2	K562	blood:
27	chr1:155017145..155017980-chr1:155033698..155034593,2	MCF-7	breast:
28	chr1:154948517..154951842-chr1:155034906..155036770,3	MCF-7	breast:
29	chr1:154933177..154934907-chr1:155034094..155037723,3	MCF-7	breast:
30	chr1:154954733..154957486-chr1:155027270..155029022,2	MCF-7	breast:
31	chr1:155034206..155036966-chr1:155163322..155165857,2	MCF-7	breast:
32	chr1:154934033..154936309-chr1:155035273..155037731,2	K562	blood:
33	chr1:154954995..154957333-chr1:155031077..155033071,2	MCF-7	breast:
34	chr1:155034568..155037098-chr1:155106619..155109204,2	MCF-7	breast:
35	chr1:155025107..155025791-chr1:155033752..155034621,2	K562	blood:
36	chr1:155033872..155036303-chr1:155100815..155102776,3	MCF-7	breast:
37	chr1:154971259..154971790-chr1:155033673..155034611,3	K562	blood:
38	chr1:154989683..154990484-chr1:155034086..155034635,2	MCF-7	breast:
39	chr1:154641931..154642817-chr1:155033668..155034517,2	K562	blood:
40	chr1:154878968..154879554-chr1:155033669..155034389,2	MCF-7	breast:
41	chr1:154927481..154932587-chr1:155031885..155037682,6	MCF-7	breast:
42	chr1:155033719..155034440-chr1:155140008..155140582,2	MCF-7	breast:
43	chr1:154932754..154935795-chr1:155033186..155037944,5	MCF-7	breast:
44	chr1:154939878..154945720-chr1:155033369..155036154,5	MCF-7	breast:
45	chr1:154989698..154990221-chr1:155035321..155036093,2	K562	blood:
46	chr1:154969072..154977664-chr1:155030052..155039846,22	MCF-7	breast:
47	chr1:155034878..155035737-chr1:155140076..155140955,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCST1-1	chr1:155032786-155033004	expReg_chr1_17823_+

No data

Variant related genes	Relation type
ADAM15	TF binding region
ENSG00000251246	TF binding region
EFNA4	TF binding region
EFNA3	TF binding region
ADAM15	CpG island
ENSG00000251246	CpG island
EFNA4	CpG island
EFNA3	CpG island
ENSG00000264349	chromatin interactions
ENSG00000271748	chromatin interactions
ENSG00000160685	chromatin interactions
ENSG00000169231	chromatin interactions
ENSG00000160691	chromatin interactions
ENSG00000270361	chromatin interactions
ENSG00000163346	chromatin interactions
ENSG00000163344	chromatin interactions
ENSG00000169242	chromatin interactions
ENSG00000169241	chromatin interactions
ENSG00000143590	chromatin interactions
ENSG00000143537	chromatin interactions
ENSG00000163352	chromatin interactions
ENSG00000163348	chromatin interactions
ENSG00000231064	chromatin interactions
ENSG00000271380	chromatin interactions
ENSG00000173207	chromatin interactions
ENSG00000160714	chromatin interactions
ENSG00000160688	chromatin interactions

Extended variants
information (count: 347 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2306122	chr1:155028692-155028693	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142636819	chr1:155028713-155028714	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs552602545	chr1:155028720-155028721	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs137868518	chr1:155028724-155028725	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs370040776	chr1:155028725-155028726	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs371735911	chr1:155028753-155028754	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs144202402	chr1:155028769-155028770	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs550092467	chr1:155028780-155028781	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568391307	chr1:155028796-155028797	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs375057464	chr1:155028856-155028857	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs535718097	chr1:155028859-155028860	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs375695343	chr1:155028886-155028887	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs114004966	chr1:155028893-155028894	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs115600527	chr1:155028923-155028924	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs368984768	chr1:155028970-155028971	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs372751038	chr1:155028988-155028989	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs533653195	chr1:155029039-155029040	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558616799	chr1:155029043-155029044	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112085112	chr1:155029054-155029055	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537825477	chr1:155029055-155029056	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs116258307	chr1:155029060-155029061	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574806650	chr1:155029103-155029104	Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs3765087	chr1:155029253-155029254	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs114509629	chr1:155029339-155029340	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs572162097	chr1:155029347-155029348	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs368689211	chr1:155029409-155029410	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs200526054	chr1:155029444-155029445	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs140070411	chr1:155029492-155029493	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531634101	chr1:155029509-155029510	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375977727	chr1:155029566-155029567	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs199553086	chr1:155029595-155029596	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs373253326	chr1:155029600-155029601	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs377489129	chr1:155029603-155029604	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs371173831	chr1:155029604-155029605	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs374255636	chr1:155029609-155029610	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs377356819	chr1:155029629-155029630	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs370317034	chr1:155029637-155029638	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs375096214	chr1:155029646-155029647	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs372199497	chr1:155029681-155029682	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs376781535	chr1:155029683-155029684	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs368808556	chr1:155029688-155029689	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs141787686	chr1:155029702-155029703	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs139438555	chr1:155029709-155029710	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs138792963	chr1:155029738-155029739	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs116488141	chr1:155029748-155029749	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs116408150	chr1:155029770-155029771	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs199551467	chr1:155029773-155029774	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs201452183	chr1:155029787-155029788	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs369359727	chr1:155029807-155029808	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs192733958	chr1:155029808-155029809	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	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
Retinoblastoma	19183342	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
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
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:581 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155025000-155034200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:155025200-155034000	Weak transcription	NH-A	brain
3	chr1:155025200-155034200	Weak transcription	Psoas Muscle	Psoas
4	chr1:155025200-155034200	Weak transcription	NHDF-Ad	bronchial
5	chr1:155025400-155028800	Weak transcription	Brain Germinal Matrix	brain
6	chr1:155025400-155029000	Weak transcription	Fetal Brain Female	brain
7	chr1:155025400-155034000	Weak transcription	GM12878-XiMat	blood
8	chr1:155025600-155030400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:155025600-155033800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:155025600-155034200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:155025800-155031400	Strong transcription	Fetal Intestine Small	intestine
12	chr1:155025800-155031800	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr1:155025800-155033600	Strong transcription	A549	lung
14	chr1:155025800-155034000	Strong transcription	Brain Cingulate Gyrus	brain
15	chr1:155026000-155029400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:155026000-155030800	Weak transcription	K562	blood
17	chr1:155026000-155033200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:155026000-155033600	Strong transcription	Brain Substantia Nigra	brain
19	chr1:155026000-155033800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:155026000-155033800	Strong transcription	Fetal Stomach	stomach
21	chr1:155026000-155034200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:155026000-155034200	Weak transcription	Right Atrium	heart
23	chr1:155026200-155029200	Strong transcription	Right Ventricle	heart
24	chr1:155026200-155029600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:155026200-155029600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:155026200-155032600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr1:155026200-155033000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:155026200-155033200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr1:155026200-155033400	Strong transcription	HMEC	breast
30	chr1:155026200-155033600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:155026200-155033600	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr1:155026200-155033800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr1:155026200-155033800	Weak transcription	Primary B cells from cord blood	blood
34	chr1:155026200-155033800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:155026200-155034000	Weak transcription	Fetal Lung	lung
36	chr1:155026200-155034200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:155026400-155031600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:155026400-155031600	Strong transcription	Hela-S3	cervix
39	chr1:155026400-155032600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:155026400-155033200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:155026400-155033400	Strong transcription	Gastric	stomach
42	chr1:155026400-155033400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr1:155026400-155033600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:155026400-155033600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:155026400-155033600	Strong transcription	Brain Anterior Caudate	brain
46	chr1:155026400-155033600	Strong transcription	Ovary	ovary
47	chr1:155026400-155033600	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:155026400-155033800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr1:155026400-155033800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:155026400-155033800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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