Variant report

Variant	nsv983463
Chromosome Location	chr12:46377328-46403983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1607)
CpG islands
(count:1220)
Chromatin interactive
region (count:88)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1607 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:46399020-46399220	HepG2	liver:	n/a	chr12:46399095-46399111 chr12:46399096-46399112
2	ARID3A	chr12:46398991-46399258	K562	blood:	n/a	chr12:46399095-46399111 chr12:46399096-46399112
3	ARID3A	chr12:46382142-46382283	K562	blood:	n/a	n/a
4	ARID3A	chr12:46385554-46386042	K562	blood:	n/a	n/a
5	ARID3A	chr12:46385522-46385955	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:46384357-46385011	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:46384379-46385208	K562	blood:	n/a	n/a
8	ATF1	chr12:46384196-46384850	K562	blood:	n/a	chr12:46384446-46384460
9	ATF1	chr12:46385494-46386108	K562	blood:	n/a	n/a
10	ATF2	chr12:46383319-46384960	GM12878	blood:	n/a	chr12:46384446-46384460
11	ATF2	chr12:46384148-46385140	GM12878	blood:	n/a	chr12:46384446-46384460
12	ATF2	chr12:46378214-46378610	GM12878	blood:	n/a	n/a
13	ATF2	chr12:46384273-46384840	H1-hESC	embryonic stem cell:	n/a	chr12:46384446-46384460
14	ATF2	chr12:46385162-46386153	GM12878	blood:	n/a	n/a
15	ATF2	chr12:46385486-46386024	GM12878	blood:	n/a	n/a
16	ATF2	chr12:46378018-46378697	GM12878	blood:	n/a	n/a
17	ATF3	chr12:46384286-46384721	GM12878	blood:	n/a	n/a
18	ATF3	chr12:46384194-46385017	A549	lung:	n/a	n/a
19	ATF3	chr12:46384188-46384790	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF3	chr12:46384234-46385148	A549	lung:	n/a	n/a
21	ATF3	chr12:46384185-46384780	K562	blood:	n/a	n/a
22	ATF3	chr12:46384273-46384789	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF3	chr12:46384282-46384955	HepG2	liver:	n/a	n/a
24	ATF3	chr12:46384263-46384765	K562	blood:	n/a	n/a
25	ATF3	chr12:46385498-46386054	A549	lung:	n/a	n/a
26	ATF3	chr12:46384261-46384746	GM12878	blood:	n/a	n/a
27	BACH1	chr12:46385543-46385944	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr12:46384185-46384998	K562	blood:	n/a	n/a
29	BACH1	chr12:46383414-46383614	K562	blood:	n/a	n/a
30	BACH1	chr12:46384170-46384884	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr12:46383496-46383905	H1-hESC	embryonic stem cell:	n/a	n/a
32	BATF	chr12:46378276-46378650	GM12878	blood:	n/a	n/a
33	BATF	chr12:46378173-46378693	GM12878	blood:	n/a	n/a
34	BATF	chr12:46384336-46384843	GM12878	blood:	n/a	n/a
35	BCL11A	chr12:46378328-46378668	GM12878	blood:	n/a	n/a
36	BCL11A	chr12:46384350-46384977	GM12878	blood:	n/a	n/a
37	BCL3	chr12:46383467-46385789	A549	lung:	n/a	chr12:46383868-46383877 chr12:46385021-46385030
38	BCL3	chr12:46384104-46385316	A549	lung:	n/a	chr12:46385021-46385030
39	BCL3	chr12:46385589-46386240	A549	lung:	n/a	n/a
40	BCLAF1	chr12:46383614-46385223	GM12878	blood:	n/a	chr12:46383868-46383877 chr12:46385021-46385030
41	BCLAF1	chr12:46383383-46385318	GM12878	blood:	n/a	chr12:46383868-46383877 chr12:46385021-46385030
42	BCLAF1	chr12:46385461-46386197	GM12878	blood:	n/a	n/a
43	BCLAF1	chr12:46385350-46386090	GM12878	blood:	n/a	n/a
44	BHLHE40	chr12:46378216-46378587	GM12878	blood:	n/a	n/a
45	BHLHE40	chr12:46385248-46386164	K562	blood:	n/a	n/a
46	BHLHE40	chr12:46383566-46385026	K562	blood:	n/a	n/a
47	BHLHE40	chr12:46385452-46385950	HepG2	liver:	n/a	n/a
48	BHLHE40	chr12:46383550-46384975	GM12878	blood:	n/a	n/a
49	BHLHE40	chr12:46383645-46384994	HepG2	liver:	n/a	n/a
50	BHLHE40	chr12:46385498-46386166	GM12878	blood:	n/a	n/a

(count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:46384453-46384503	Hepatocyte	liver:	n/a
2	chr12:46384459-46384509	SK-N-SH_RA	brain:	n/a
3	chr12:46385625-46385675	ovcar-3	ovarian:	n/a
4	chr12:46385073-46385123	HRCEpiC	kidney:	n/a
5	chr12:46383466-46383516	HEK293	kidney:	embryo
6	chr12:46384459-46384509	PrEC	prostate:	n/a
7	chr12:46393592-46393642	BJ	skin:	n/a
8	chr12:46384600-46384650	H1-hESC	embryonic stem cell:	embryo
9	chr12:46386015-46386065	HCF	heart:	n/a
10	chr12:46384284-46384334	NHDF-neo	bronchial:	n/a
11	chr12:46385702-46385752	U87	brain:	n/a
12	chr12:46385851-46385901	SK-N-MC	brain:	n/a
13	chr12:46384569-46384619	SK-N-MC	brain:	n/a
14	chr12:46385702-46385752	HMEC	breast:	n/a
15	chr12:46385525-46385575	NT2-D1	testis:	n/a
16	chr12:46384545-46384595	HEEpiC	esophagus:	n/a
17	chr12:46384600-46384650	GM19239	blood:	n/a
18	chr12:46384545-46384595	SAEC	small airway:	n/a
19	chr12:46384545-46384595	SKMC	muscle:	n/a
20	chr12:46384545-46384595	HAEpiC	amniotic membrane:	n/a
21	chr12:46385073-46385123	HNPCEpiC	eye:	n/a
22	chr12:46384284-46384334	T-47D	breast:	n/a
23	chr12:46385702-46385752	Jurkat	blood:	n/a
24	chr12:46385851-46385901	AG04450	lung:	fetal
25	chr12:46383601-46383651	RPTEC	kidney:	n/a
26	chr12:46386015-46386065	SK-N-SH_RA	brain:	n/a
27	chr12:46393592-46393642	HCT-116	colon:	n/a
28	chr12:46393592-46393642	Caco-2	colon:	n/a
29	chr12:46385525-46385575	K562	blood:	n/a
30	chr12:46384453-46384503	HL-60	blood:	n/a
31	chr12:46386015-46386065	AG10803	skin:	n/a
32	chr12:46385851-46385901	HRCEpiC	kidney:	n/a
33	chr12:46380986-46381036	AG09309	skin:	n/a
34	chr12:46385625-46385675	SK-N-SH_RA	brain:	n/a
35	chr12:46387904-46387954	AoSMC	blood vessel:	n/a
36	chr12:46385702-46385752	CMK	blood:	n/a
37	chr12:46384569-46384619	SK-N-SH_RA	brain:	n/a
38	chr12:46384569-46384619	MCF-7	breast:	n/a
39	chr12:46385851-46385901	H1-hESC	embryonic stem cell:	embryo
40	chr12:46380986-46381036	Caco-2	colon:	n/a
41	chr12:46385851-46385901	MCF10A-Er-Src	breast:	n/a
42	chr12:46385851-46385901	IMR90	lung:	fetal
43	chr12:46385073-46385123	LNCaP	prostate:	n/a
44	chr12:46384545-46384595	HepG2	liver:	n/a
45	chr12:46387904-46387954	HCF	heart:	n/a
46	chr12:46380986-46381036	ECC-1	luminal epithelium:	n/a
47	chr12:46385851-46385901	HRE	kidney:	n/a
48	chr12:46384569-46384619	HEEpiC	esophagus:	n/a
49	chr12:46384545-46384595	NHDF-neo	bronchial:	n/a
50	chr12:46385851-46385901	HNPCEpiC	eye:	n/a

(count:88 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:46383619..46384321-chr17:41438325..41439111,3	Hela-S3	cervix:
2	chr12:46383804..46386112-chr12:46763445..46766511,3	MCF-7	breast:
3	chr12:46370168..46377627-chr12:46379598..46386227,22	MCF-7	breast:
4	chr12:46378411..46380674-chr12:46387535..46389678,2	K562	blood:
5	chr10:60145019..60145559-chr12:46383861..46384446,2	NB4	blood:
6	chr12:46173636..46175276-chr12:46381483..46383526,2	K562	blood:
7	chr12:46383844..46385059-chr6:27100517..27101410,4	Hela-S3	cervix:
8	chr12:46384512..46385148-chr12:93323246..93323795,2	NB4	blood:
9	chr12:46384571..46386329-chr12:46403356..46406052,2	MCF-7	breast:
10	chr12:46385364..46385933-chr13:111365517..111366125,2	NB4	blood:
11	chr12:46234148..46236211-chr12:46380444..46382756,2	MCF-7	breast:
12	chr12:46389619..46391753-chr12:46396680..46398448,2	MCF-7	breast:
13	chr12:46397363..46399322-chr12:46401687..46404119,2	K562	blood:
14	chr12:46383827..46384348-chr15:52311563..52312211,2	Hela-S3	cervix:
15	chr12:46385410..46386104-chr6:89790440..89791393,2	Hela-S3	cervix:
16	chr12:46384380..46384880-chr15:93447191..93447827,2	NB4	blood:
17	chr10:5931232..5931977-chr12:46383975..46384769,2	Hela-S3	cervix:
18	chr12:46384589..46385168-chr7:5436336..5437128,2	Hela-S3	cervix:
19	chr12:46384183..46384781-chr15:65588063..65588776,2	Hela-S3	cervix:
20	chr12:46382586..46387481-chr12:46763277..46769922,9	K562	blood:
21	chr12:46384157..46387744-chr12:46398744..46401849,4	MCF-7	breast:
22	chr12:46361472..46363562-chr12:46382349..46384332,2	K562	blood:
23	chr12:46385478..46386392-chr12:53298360..53298860,2	Hela-S3	cervix:
24	chr12:46382717..46386243-chr12:46660668..46665434,7	MCF-7	breast:
25	chr12:46387187..46389675-chr12:46516177..46518517,2	K562	blood:
26	chr12:46383566..46385993-chr12:46390102..46391928,3	K562	blood:
27	chr12:45607714..45610119-chr12:46385742..46387348,2	K562	blood:
28	chr12:46383917..46384835-chr18:3247640..3248213,2	Hela-S3	cervix:
29	chr12:46382760..46386151-chr12:46661620..46664692,5	K562	blood:
30	chr12:46383111..46384760-chr12:46398700..46400514,2	MCF-7	breast:
31	chr12:46381426..46387093-chr12:46763754..46767064,8	MCF-7	breast:
32	chr12:46121142..46128895-chr12:46378215..46381675,6	K562	blood:
33	chr12:46381552..46382503-chr12:46595173..46595922,2	MCF-7	breast:
34	chr12:46369343..46373226-chr12:46374858..46377675,3	K562	blood:
35	chr12:46384603..46385249-chr2:88315855..88316514,2	NB4	blood:
36	chr12:46385180..46385828-chr12:51632634..51633506,2	Hela-S3	cervix:
37	chr12:46344593..46346817-chr12:46380170..46382084,2	MCF-7	breast:
38	chr12:46381984..46384218-chr12:46387079..46389298,2	K562	blood:
39	chr12:46387729..46389398-chr12:46395148..46396706,2	MCF-7	breast:
40	chr12:46381030..46386260-chr12:46762457..46768592,6	K562	blood:
41	chr12:46383831..46384593-chr7:148395641..148396409,2	Hela-S3	cervix:
42	chr12:46387729..46389398-chr12:46395148..46396706,2	MCF-7	breast:
43	chr12:46385525..46386462-chr12:109124486..109125310,2	Hela-S3	cervix:
44	chr12:46385385..46385940-chrX:48455480..48456095,2	Hela-S3	cervix:
45	chr12:46385759..46386714-chr14:39735705..39736361,2	Hela-S3	cervix:
46	chr12:46384380..46386234-chr12:46393719..46396620,3	MCF-7	breast:
47	chr12:46382194..46387214-chr12:46392482..46398742,9	MCF-7	breast:
48	chr1:16481958..16482703-chr12:46383691..46384540,2	Hela-S3	cervix:
49	chr12:46121861..46123508-chr12:46390238..46391905,2	MCF-7	breast:
50	chr12:46384364..46385311-chr8:29939995..29940768,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCAF11-3	chr12:46397821-46398468	NONHSAT027847

No data

Variant related genes	Relation type
ENSG00000239397	TF binding region
SCAF11	TF binding region
ENSG00000239397	CpG island
SCAF11	CpG island
ENSG00000146278	chromatin interactions
ENSG00000139218	chromatin interactions
ENSG00000096717	chromatin interactions
ENSG00000069956	chromatin interactions
ENSG00000257261	chromatin interactions
ENSG00000260032	chromatin interactions
ENSG00000258096	chromatin interactions
ENSG00000134452	chromatin interactions
ENSG00000137770	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000111371	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000150527	chromatin interactions
ENSG00000134294	chromatin interactions
ENSG00000258940	chromatin interactions
ENSG00000273314	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000101608	chromatin interactions
ENSG00000183283	chromatin interactions
ENSG00000177119	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000188725	chromatin interactions
ENSG00000110880	chromatin interactions
ENSG00000189079	chromatin interactions
ENSG00000134461	chromatin interactions
ENSG00000108064	chromatin interactions
ENSG00000259595	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000101940	chromatin interactions
ENSG00000142627	chromatin interactions
ENSG00000272256	chromatin interactions
ENSG00000184840	chromatin interactions
ENSG00000134297	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000133872	chromatin interactions
ENSG00000055130	chromatin interactions
ENSG00000173575	chromatin interactions
ENSG00000264173	chromatin interactions
ENSG00000273015	chromatin interactions
ENSG00000239397	chromatin interactions
ENSG00000185112	chromatin interactions
ENSG00000114021	chromatin interactions

Extended variants
information (count: 915 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375869562	chr12:46377430-46377431	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557744821	chr12:46377456-46377457	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs71437739	chr12:46377525-46377526	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577713754	chr12:46377567-46377568	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs55655357	chr12:46377568-46377569	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537089846	chr12:46377687-46377688	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs557085310	chr12:46377688-46377689	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs573689553	chr12:46377733-46377734	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs149756391	chr12:46377749-46377750	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs184129551	chr12:46377757-46377758	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs145545437	chr12:46377773-46377774	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs544914434	chr12:46377780-46377781	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs74564685	chr12:46377802-46377803	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs1978598	chr12:46377806-46377807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs373512205	chr12:46377829-46377830	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs534733597	chr12:46377848-46377849	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs139671527	chr12:46377897-46377898	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs199516827	chr12:46377935-46377936	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs200576932	chr12:46377941-46377942	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs574316404	chr12:46378007-46378008	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs546057221	chr12:46378033-46378034	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs541831128	chr12:46378046-46378047	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs530156221	chr12:46378063-46378064	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs187352603	chr12:46378195-46378196	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs566961552	chr12:46378217-46378218	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs145422545	chr12:46378265-46378266	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs73097380	chr12:46378286-46378287	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs569610152	chr12:46378315-46378316	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs556929046	chr12:46378418-46378419	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs368853671	chr12:46378421-46378422	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs117882904	chr12:46378469-46378470	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs539795330	chr12:46378479-46378480	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs545590544	chr12:46378540-46378541	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs34342321	chr12:46378559-46378560	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs573653513	chr12:46378566-46378567	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs535980346	chr12:46378581-46378582	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs192214163	chr12:46378585-46378586	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs572958653	chr12:46378612-46378613	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs185493671	chr12:46378634-46378635	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs370709240	chr12:46378709-46378710	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs575187512	chr12:46378717-46378718	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs544170480	chr12:46378782-46378783	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs147698283	chr12:46378788-46378789	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs190700414	chr12:46378853-46378854	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs540372905	chr12:46378898-46378899	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs142462169	chr12:46378903-46378904	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs199609774	chr12:46378904-46378905	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs532455793	chr12:46378926-46378927	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs532743294	chr12:46378929-46378930	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs146355113	chr12:46378932-46378933	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21542898	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:883 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46299000-46381000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:46357000-46380400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:46357600-46380000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:46357800-46381200	Weak transcription	Fetal Kidney	kidney
5	chr12:46358800-46380600	Weak transcription	Spleen	Spleen
6	chr12:46360600-46380000	Weak transcription	Brain Angular Gyrus	brain
7	chr12:46360600-46381400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:46360600-46381800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:46360600-46383000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:46361400-46383200	Weak transcription	Lung	lung
11	chr12:46361800-46379600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:46362800-46383400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:46363200-46380200	Weak transcription	NHLF	lung
14	chr12:46363400-46380600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:46363600-46380600	Weak transcription	Fetal Stomach	stomach
16	chr12:46363600-46381800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:46364400-46379000	Weak transcription	Gastric	stomach
18	chr12:46366200-46377800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:46366200-46378400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:46366400-46377800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:46366400-46379000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:46366400-46380200	Weak transcription	Thymus	Thymus
23	chr12:46366400-46380600	Weak transcription	Placenta	Placenta
24	chr12:46367400-46379000	Weak transcription	Fetal Intestine Large	intestine
25	chr12:46367400-46383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:46367800-46380400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:46368200-46379200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:46368600-46380600	Weak transcription	NH-A	brain
29	chr12:46368800-46380600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:46369000-46379200	Weak transcription	NHDF-Ad	bronchial
31	chr12:46369200-46378200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:46369200-46379200	Weak transcription	Fetal Muscle Leg	muscle
33	chr12:46369200-46380600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:46369400-46379200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:46369600-46378200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:46369600-46380400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:46369600-46380400	Weak transcription	Pancreas	Pancrea
38	chr12:46369800-46379000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:46370000-46377800	Weak transcription	Fetal Thymus	thymus
40	chr12:46370000-46379800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr12:46370000-46381000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:46370200-46378000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:46370400-46378000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr12:46370400-46378200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:46370600-46378800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:46370800-46378000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:46370800-46382800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr12:46371600-46378200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr12:46372000-46381000	Weak transcription	Stomach Mucosa	stomach
50	chr12:46372200-46381000	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links