Variant report

Variant	nsv8974
Chromosome Location	chr12:57852779-57865881
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1379)
CpG islands
(count:977)
Chromatin interactive
region (count:60)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1379 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:57852912-57853455	K562	blood:	n/a	n/a
2	ARID3A	chr12:57856275-57856714	K562	blood:	n/a	n/a
3	ARID3A	chr12:57852875-57853214	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:57856266-57856740	HepG2	liver:	n/a	n/a
5	ATF1	chr12:57852844-57853298	K562	blood:	n/a	n/a
6	ATF2	chr12:57856063-57856821	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr12:57852728-57853291	GM12878	blood:	n/a	n/a
8	ATF2	chr12:57854601-57855467	H1-hESC	embryonic stem cell:	n/a	chr12:57855146-57855157
9	ATF2	chr12:57852716-57853572	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr12:57856399-57856779	GM12878	blood:	n/a	n/a
11	ATF2	chr12:57852638-57853235	GM12878	blood:	n/a	n/a
12	ATF2	chr12:57854671-57855427	H1-hESC	embryonic stem cell:	n/a	chr12:57855146-57855157
13	ATF2	chr12:57852773-57853326	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr12:57856190-57856795	GM12878	blood:	n/a	n/a
15	ATF2	chr12:57855933-57856858	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr12:57852644-57853668	A549	lung:	n/a	n/a
17	ATF3	chr12:57856010-57856859	A549	lung:	n/a	n/a
18	BACH1	chr12:57855673-57855964	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr12:57856262-57856745	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr12:57857710-57858066	GM12878	blood:	n/a	n/a
21	BATF	chr12:57857794-57857986	GM12878	blood:	n/a	n/a
22	BCL3	chr12:57853897-57856889	A549	lung:	n/a	chr12:57855572-57855581 chr12:57854572-57854581 chr12:57854557-57854566 chr12:57856000-57856009 chr12:57855538-57855551
23	BCL3	chr12:57852532-57853868	A549	lung:	n/a	chr12:57853738-57853751 chr12:57853728-57853737
24	BCL3	chr12:57852545-57853684	A549	lung:	n/a	n/a
25	BCL3	chr12:57855690-57856882	A549	lung:	n/a	chr12:57856000-57856009
26	BCL3	chr12:57854860-57855444	A549	lung:	n/a	n/a
27	BCLAF1	chr12:57856245-57856829	GM12878	blood:	n/a	n/a
28	BCLAF1	chr12:57856231-57856797	GM12878	blood:	n/a	n/a
29	BCLAF1	chr12:57852727-57853596	GM12878	blood:	n/a	n/a
30	BHLHE40	chr12:57859587-57859889	K562	blood:	n/a	n/a
31	BHLHE40	chr12:57856445-57856845	K562	blood:	n/a	n/a
32	BHLHE40	chr12:57852696-57853530	K562	blood:	n/a	n/a
33	BHLHE40	chr12:57855774-57855834	K562	blood:	n/a	n/a
34	BHLHE40	chr12:57859645-57859848	HepG2	liver:	n/a	n/a
35	BHLHE40	chr12:57856247-57856830	GM12878	blood:	n/a	n/a
36	BHLHE40	chr12:57856465-57856735	HepG2	liver:	n/a	n/a
37	BHLHE40	chr12:57852577-57853516	GM12878	blood:	n/a	n/a
38	BRCA1	chr12:57853065-57853180	HepG2	liver:	n/a	n/a
39	BRCA1	chr12:57856188-57856736	H1-hESC	embryonic stem cell:	n/a	n/a
40	BRCA1	chr12:57856407-57856740	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr12:57852747-57853157	GM12878	blood:	n/a	n/a
42	BRCA1	chr12:57852904-57853487	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr12:57856561-57856784	GM12878	blood:	n/a	n/a
44	BRCA1	chr12:57854280-57854362	HepG2	liver:	n/a	n/a
45	BRCA1	chr12:57853389-57853529	HepG2	liver:	n/a	n/a
46	CBX3	chr12:57853293-57853590	K562	blood:	n/a	n/a
47	CBX3	chr12:57852775-57853645	K562	blood:	n/a	n/a
48	CBX3	chr12:57856125-57856839	K562	blood:	n/a	n/a
49	CBX3	chr12:57856223-57856759	K562	blood:	n/a	n/a
50	CCNT2	chr12:57852913-57853525	K562	blood:	n/a	chr12:57853338-57853358

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57855694-57855744	IMR90	lung:	fetal
2	chr12:57855694-57855744	IMR90	lung:	fetal
3	chr12:57855541-57855591	SK-N-MC	brain:	n/a
4	chr12:57853743-57853793	HEK293	kidney:	embryo
5	chr12:57855338-57855388	HCT-116	colon:	n/a
6	chr12:57853514-57853564	ECC-1	luminal epithelium:	n/a
7	chr12:57853920-57853970	HPAEpiC	pulmonary alveolar:	n/a
8	chr12:57854236-57854286	SAEC	small airway:	n/a
9	chr12:57853735-57853785	NT2-D1	testis:	n/a
10	chr12:57863266-57863316	ECC-1	luminal epithelium:	n/a
11	chr12:57856004-57856054	HCM	heart:	n/a
12	chr12:57855541-57855591	AG09319	gingival:	n/a
13	chr12:57863266-57863316	HEK293	kidney:	embryo
14	chr12:57853514-57853564	NH-A	brain:	n/a
15	chr12:57857516-57857566	U87	brain:	n/a
16	chr12:57863266-57863316	LNCaP	prostate:	n/a
17	chr12:57855200-57855250	GM12891	blood:	n/a
18	chr12:57854236-57854286	GM06990	blood:	n/a
19	chr12:57853920-57853970	HEEpiC	esophagus:	n/a
20	chr12:57853396-57853446	AG10803	skin:	n/a
21	chr12:57853735-57853785	PFSK-1	brain:	n/a
22	chr12:57855338-57855388	AG04449	skin:	fetal
23	chr12:57853514-57853564	NB4	blood:	n/a
24	chr12:57855200-57855250	GM12878	blood:	n/a
25	chr12:57853540-57853590	HAEpiC	amniotic membrane:	n/a
26	chr12:57854236-57854286	CMK	blood:	n/a
27	chr12:57853737-57853787	MCF-7	breast:	n/a
28	chr12:57857516-57857566	HCM	heart:	n/a
29	chr12:57855338-57855388	HNPCEpiC	eye:	n/a
30	chr12:57857516-57857566	NB4	blood:	n/a
31	chr12:57856004-57856054	SAEC	small airway:	n/a
32	chr12:57853735-57853785	AG09309	skin:	n/a
33	chr12:57855338-57855388	BE2_C	brain:	n/a
34	chr12:57855694-57855744	HEEpiC	esophagus:	n/a
35	chr12:57853735-57853785	SK-N-SH_RA	brain:	n/a
36	chr12:57853735-57853785	IMR90	lung:	fetal
37	chr12:57853514-57853564	HepG2	liver:	n/a
38	chr12:57853743-57853793	IMR90	lung:	fetal
39	chr12:57855338-57855388	NHDF-neo	bronchial:	n/a
40	chr12:57853737-57853787	AG10803	skin:	n/a
41	chr12:57855694-57855744	HRCEpiC	kidney:	n/a
42	chr12:57853396-57853446	SK-N-MC	brain:	n/a
43	chr12:57853540-57853590	NHBE	bronchial:	n/a
44	chr12:57863266-57863316	HRCEpiC	kidney:	n/a
45	chr12:57855541-57855591	GM12891	blood:	n/a
46	chr12:57856004-57856054	HEK293	kidney:	embryo
47	chr12:57856004-57856054	HMEC	breast:	n/a
48	chr12:57853737-57853787	GM12891	blood:	n/a
49	chr12:57853735-57853785	SAEC	small airway:	n/a
50	chr12:57853737-57853787	NHDF-neo	bronchial:	n/a

(count:60 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:57864949..57866728-chr12:57912864..57915188,2	MCF-7	breast:
2	chr12:57850154..57858218-chr12:57910899..57919538,20	K562	blood:
3	chr12:57847573..57850559-chr12:57865092..57866991,2	K562	blood:
4	chr12:57863342..57866223-chr12:57872034..57874836,2	MCF-7	breast:
5	chr12:57854130..57857750-chr12:57881459..57884101,5	K562	blood:
6	chr12:57633619..57639143-chr12:57853203..57857806,7	K562	blood:
7	chr12:57701098..57701821-chr12:57856115..57856743,3	MCF-7	breast:
8	chr12:57865716..57868147-chr12:57875960..57878891,2	K562	blood:
9	chr12:57821945..57831494-chr12:57839441..57852842,32	K562	blood:
10	chr12:57852892..57855767-chr12:58158814..58160402,2	K562	blood:
11	chr12:57822750..57826133-chr12:57852904..57855936,4	K562	blood:
12	chr12:57852643..57853481-chr12:58176405..58177025,2	K562	blood:
13	chr12:57856136..57857070-chr12:58020257..58020872,2	K562	blood:
14	chr12:57850914..57853325-chr12:57864861..57866988,3	K562	blood:
15	chr12:57849885..57859254-chr12:57908711..57915821,16	K562	blood:
16	chr12:57864629..57868317-chr12:57913861..57916135,3	K562	blood:
17	chr12:57852567..57853136-chr12:58087060..58087719,2	MCF-7	breast:
18	chr12:57824170..57826622-chr12:57865605..57867278,2	MCF-7	breast:
19	chr12:57852367..57853297-chr18:2655179..2655859,2	Hela-S3	cervix:
20	chr12:57850914..57853325-chr12:57864861..57866988,3	K562	blood:
21	chr12:57858695..57861784-chr12:57862109..57867144,5	K562	blood:
22	chr12:57852555..57853055-chr3:33155341..33155929,2	Hela-S3	cervix:
23	chr12:57863008..57865663-chr12:57869026..57873424,5	K562	blood:
24	chr12:57861880..57866210-chr12:57903608..57907475,3	K562	blood:
25	chr12:57850715..57853202-chr12:57880450..57882915,3	K562	blood:
26	chr12:57853636..57856322-chr12:58144624..58146178,2	K562	blood:
27	chr12:57854178..57856393-chr12:58005789..58008256,3	K562	blood:
28	chr12:57864997..57867695-chr12:57880330..57882792,2	K562	blood:
29	chr12:57701257..57702169-chr12:57855798..57856658,2	K562	blood:
30	chr12:57848876..57851404-chr12:57851445..57853731,2	MCF-7	breast:
31	chr12:57864629..57868923-chr12:57913251..57916366,4	K562	blood:
32	chr12:57858770..57860862-chr12:57912949..57914502,2	MCF-7	breast:
33	chr12:57852034..57858739-chr12:57911478..57917144,8	MCF-7	breast:
34	chr12:57625841..57628130-chr12:57851805..57854009,2	K562	blood:
35	chr12:57855507..57859311-chr12:57860287..57863469,4	MCF-7	breast:
36	chr12:57622711..57625468-chr12:57850226..57853031,2	K562	blood:
37	chr12:57852790..57853327-chr12:58015168..58015867,2	MCF-7	breast:
38	chr12:57856465..57858334-chr12:57867233..57870220,2	MCF-7	breast:
39	chr12:57855142..57857395-chr12:57860962..57863336,2	K562	blood:
40	chr12:57693773..57695685-chr12:57852034..57854514,2	K562	blood:
41	chr12:57855142..57857395-chr12:57860962..57863336,2	K562	blood:
42	chr12:57851318..57853118-chr12:57916144..57917721,2	K562	blood:
43	chr12:57856220..57856940-chr12:58129447..58130061,2	MCF-7	breast:
44	chr12:57856862..57858591-chr12:57918787..57921199,2	MCF-7	breast:
45	chr12:57854179..57856713-chr12:57863394..57866070,2	MCF-7	breast:
46	chr12:57851728..57854572-chr12:58144859..58146430,2	MCF-7	breast:
47	chr12:57861490..57863262-chr12:57881272..57883227,2	K562	blood:
48	chr12:57851014..57853081-chr12:57861682..57863559,2	K562	blood:
49	chr12:57820715..57827591-chr12:57847165..57857509,18	K562	blood:
50	chr12:57862840..57863340-chr2:201374709..201375212,2	NB4	blood:

No data

Variant related genes	Relation type
MARS	TF binding region
GLI1	TF binding region
MARS	CpG island
GLI1	CpG island
ENSG00000135452	chromatin interactions
ENSG00000135439	chromatin interactions
ENSG00000252865	chromatin interactions
ENSG00000155729	chromatin interactions
ENSG00000182199	chromatin interactions
ENSG00000166986	chromatin interactions
ENSG00000175189	chromatin interactions
ENSG00000240771	chromatin interactions
ENSG00000170275	chromatin interactions
ENSG00000111012	chromatin interactions
ENSG00000175197	chromatin interactions
ENSG00000111087	chromatin interactions
ENSG00000123329	chromatin interactions
ENSG00000135446	chromatin interactions
ENSG00000101596	chromatin interactions
ENSG00000266405	chromatin interactions
ENSG00000258001	chromatin interactions
ENSG00000179912	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000163535	chromatin interactions
ENSG00000140043	chromatin interactions
ENSG00000258653	chromatin interactions
ENSG00000185633	chromatin interactions
ENSG00000208028	chromatin interactions
ENSG00000139269	chromatin interactions
ENSG00000123297	chromatin interactions
ENSG00000143751	chromatin interactions

Extended variants
information (count: 559 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188946854	chr12:57852826-57852827	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
2	rs548018849	chr12:57852909-57852910	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
3	rs563379756	chr12:57852930-57852931	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
4	rs535653573	chr12:57852977-57852978	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
5	rs539079354	chr12:57853004-57853005	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
6	rs552389940	chr12:57853005-57853006	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
7	rs372930656	chr12:57853021-57853022	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
8	rs553667304	chr12:57853065-57853066	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
9	rs181755212	chr12:57853104-57853105	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
10	rs375888943	chr12:57853124-57853125	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
11	rs2242578	chr12:57853153-57853154	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
12	rs184676488	chr12:57853196-57853197	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
13	rs568310668	chr12:57853202-57853203	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
14	rs535630943	chr12:57853224-57853225	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
15	rs554800508	chr12:57853243-57853244	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
16	rs539016474	chr12:57853274-57853275	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs60812281	chr12:57853276-57853277	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs189509207	chr12:57853313-57853314	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs537072854	chr12:57853331-57853332	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs55852335	chr12:57853335-57853336	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs577124134	chr12:57853431-57853432	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs541371501	chr12:57853437-57853438	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs559608732	chr12:57853468-57853469	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs574723358	chr12:57853469-57853470	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs542385944	chr12:57853530-57853531	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs79305215	chr12:57853556-57853557	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs544698348	chr12:57853557-57853558	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs114872109	chr12:57853565-57853566	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs398019765	chr12:57853566-57853567	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs563257939	chr12:57853568-57853569	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs118054983	chr12:57853599-57853600	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs58578540	chr12:57853677-57853678	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs551897439	chr12:57853688-57853689	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs564027328	chr12:57853698-57853699	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs528091034	chr12:57853877-57853878	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs533933914	chr12:57853906-57853907	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs377330434	chr12:57853954-57853955	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs137881595	chr12:57853990-57853991	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs575906214	chr12:57853991-57853992	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs377185653	chr12:57853992-57853993	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs568348018	chr12:57854058-57854059	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs535318149	chr12:57854062-57854063	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs550723261	chr12:57854080-57854081	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs117797196	chr12:57854085-57854086	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs139998389	chr12:57854088-57854089	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs558622455	chr12:57854144-57854145	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs576865850	chr12:57854154-57854155	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs539179179	chr12:57854190-57854191	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs534679909	chr12:57854201-57854202	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs10783826	chr12:57854283-57854284	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	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
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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:1102 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57849600-57852800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:57850400-57852800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:57850400-57852800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:57852200-57853000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:57852200-57853400	Flanking Active TSS	NHEK	skin
6	chr12:57852400-57852800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr12:57852400-57852800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr12:57852400-57852800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr12:57852400-57852800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr12:57852400-57852800	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr12:57852400-57852800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:57852400-57852800	Enhancers	Fetal Muscle Leg	muscle
13	chr12:57852400-57852800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr12:57852400-57853000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:57852400-57853000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:57852400-57853000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:57852400-57853000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr12:57852400-57853000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:57852400-57853000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:57852400-57853000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:57852400-57853000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr12:57852400-57853000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr12:57852400-57853000	Flanking Active TSS	A549	lung
24	chr12:57852400-57853000	Flanking Active TSS	Hela-S3	cervix
25	chr12:57852400-57853000	Flanking Active TSS	HepG2	liver
26	chr12:57852400-57853000	Flanking Active TSS	K562	blood
27	chr12:57852400-57853400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr12:57852400-57853400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:57852400-57853400	Flanking Active TSS	HSMMtube	muscle
30	chr12:57852400-57853600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr12:57852400-57853600	Flanking Active TSS	Dnd41	blood
32	chr12:57852400-57853600	Flanking Active TSS	HUVEC	blood vessel
33	chr12:57852400-57853800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr12:57852400-57853800	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr12:57852400-57853800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:57852400-57853800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:57852400-57854600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr12:57852400-57856600	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr12:57852400-57856800	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr12:57852600-57852800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr12:57852600-57852800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:57852600-57852800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:57852600-57852800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:57852600-57852800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:57852600-57852800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:57852600-57852800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:57852600-57852800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:57852600-57852800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr12:57852600-57852800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:57852600-57852800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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