Variant report

Variant	esv3377942
Chromosome Location	chr12:106640247-106642795
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:383)
CpG islands
(count:368)
Chromatin interactive
region (count:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:106642335-106642483	HepG2	liver:	n/a	n/a
2	BACH1	chr12:106642177-106642831	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr12:106642047-106642646	A549	lung:	n/a	chr12:106642156-106642169 chr12:106642135-106642144
4	BHLHE40	chr12:106641123-106641230	GM12878	blood:	n/a	n/a
5	BHLHE40	chr12:106641572-106641918	GM12878	blood:	n/a	chr12:106641740-106641756
6	BHLHE40	chr12:106641655-106641899	HepG2	liver:	n/a	chr12:106641740-106641756
7	BHLHE40	chr12:106641682-106641768	K562	blood:	n/a	chr12:106641740-106641756
8	BRCA1	chr12:106642458-106642460	HepG2	liver:	n/a	n/a
9	CCNT2	chr12:106641692-106641893	K562	blood:	n/a	n/a
10	CEBPD	chr12:106641712-106642110	HepG2	liver:	n/a	n/a
11	CEBPD	chr12:106641748-106642031	HepG2	liver:	n/a	n/a
12	CHD1	chr12:106639633-106643296	IMR90	lung:	n/a	chr12:106641025-106641035
13	CHD2	chr12:106641823-106641890	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr12:106640657-106641082	Hela-S3	cervix:	n/a	chr12:106641025-106641035
15	CHD2	chr12:106641803-106641805	HepG2	liver:	n/a	n/a
16	CHD2	chr12:106641149-106641203	GM12878	blood:	n/a	n/a
17	CHD2	chr12:106642428-106642474	HepG2	liver:	n/a	n/a
18	CHD2	chr12:106642258-106642369	H1-hESC	embryonic stem cell:	n/a	n/a
19	CREB1	chr12:106641338-106642036	A549	lung:	n/a	n/a
20	CTCF	chr12:106641140-106641290	HMEC	breast:	n/a	n/a
21	CTCF	chr12:106641151-106641318	GM12878	blood:	n/a	n/a
22	CTCF	chr12:106641180-106641330	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr12:106642220-106642370	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr12:106641020-106641170	BJ	skin:	n/a	chr12:106641027-106641040
25	CTCF	chr12:106641160-106641310	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr12:106641174-106641188	GM12891	blood:	n/a	n/a
27	CTCF	chr12:106641160-106641310	AG04449	skin:	n/a	n/a
28	CTCF	chr12:106641160-106641310	GM12873	blood:	n/a	n/a
29	CTCF	chr12:106640960-106641110	AG04450	lung:	n/a	chr12:106641027-106641040
30	CTCF	chr12:106641160-106641310	HCFaa	heart:	n/a	n/a
31	CTCF	chr12:106640780-106640930	AG04449	skin:	n/a	n/a
32	CTCF	chr12:106641200-106641350	GM12873	blood:	n/a	n/a
33	CTCF	chr12:106641177-106641187	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr12:106641207-106641265	GM12891	blood:	n/a	n/a
35	CTCF	chr12:106641120-106641270	AG09319	gingival:	n/a	n/a
36	CTCF	chr12:106641180-106641330	HMF	breast:	n/a	n/a
37	CTCF	chr12:106641200-106641350	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr12:106641080-106641230	HCM	heart:	n/a	n/a
39	CTCF	chr12:106641080-106641230	GM06990	blood:	n/a	n/a
40	CTCF	chr12:106641140-106641290	SAEC	small airway:	n/a	n/a
41	CTCF	chr12:106641721-106641782	LNCaP	prostate:	n/a	n/a
42	CTCF	chr12:106641040-106641190	MCF-7	breast:	n/a	n/a
43	CTCF	chr12:106641180-106641330	GM12865	blood:	n/a	n/a
44	CTCF	chr12:106641188-106641345	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr12:106641200-106641350	GM12871	blood:	n/a	n/a
46	CTCF	chr12:106641140-106641290	GM12878	blood:	n/a	n/a
47	CTCF	chr12:106641200-106641350	GM12869	blood:	n/a	n/a
48	CTCF	chr12:106641140-106641290	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr12:106641180-106641330	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr12:106640940-106641090	SAEC	small airway:	n/a	chr12:106641027-106641040

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:106641008-106641058	HepG2	liver:	n/a
2	chr12:106641008-106641058	PrEC	prostate:	n/a
3	chr12:106641008-106641058	HepG2	liver:	n/a
4	chr12:106641008-106641058	PrEC	prostate:	n/a
5	chr12:106642360-106642410	HL-60	blood:	n/a
6	chr12:106641486-106641536	RPTEC	kidney:	n/a
7	chr12:106641008-106641058	NT2-D1	testis:	n/a
8	chr12:106641008-106641058	Hepatocyte	liver:	n/a
9	chr12:106642001-106642051	HRPEpiC	eye:	n/a
10	chr12:106641008-106641058	Jurkat	blood:	n/a
11	chr12:106641134-106641184	HCF	heart:	n/a
12	chr12:106642360-106642410	T-47D	breast:	n/a
13	chr12:106642001-106642051	GM12891	blood:	n/a
14	chr12:106642001-106642051	NH-A	brain:	n/a
15	chr12:106641994-106642044	NHDF-neo	bronchial:	n/a
16	chr12:106641486-106641536	ECC-1	luminal epithelium:	n/a
17	chr12:106641134-106641184	SAEC	small airway:	n/a
18	chr12:106642360-106642410	RPTEC	kidney:	n/a
19	chr12:106641994-106642044	AG04449	skin:	fetal
20	chr12:106641008-106641058	HPAEpiC	pulmonary alveolar:	n/a
21	chr12:106641134-106641184	AG09309	skin:	n/a
22	chr12:106642360-106642410	Hepatocyte	liver:	n/a
23	chr12:106641134-106641184	HRE	kidney:	n/a
24	chr12:106642360-106642410	NT2-D1	testis:	n/a
25	chr12:106642001-106642051	H1-hESC	embryonic stem cell:	embryo
26	chr12:106642001-106642051	SAEC	small airway:	n/a
27	chr12:106641134-106641184	HUVEC	blood vessel:	n/a
28	chr12:106642360-106642410	LNCaP	prostate:	n/a
29	chr12:106641008-106641058	HCPEpiC	choroid plexus:	n/a
30	chr12:106642360-106642410	AG04449	skin:	fetal
31	chr12:106642360-106642410	PrEC	prostate:	n/a
32	chr12:106642360-106642410	ProgFib	skin:	n/a
33	chr12:106641008-106641058	HEK293	kidney:	embryo
34	chr12:106641008-106641058	HRCEpiC	kidney:	n/a
35	chr12:106641134-106641184	AG04449	skin:	fetal
36	chr12:106641134-106641184	MCF-7	breast:	n/a
37	chr12:106641134-106641184	RPTEC	kidney:	n/a
38	chr12:106641486-106641536	HRCEpiC	kidney:	n/a
39	chr12:106641008-106641058	NB4	blood:	n/a
40	chr12:106642001-106642051	HUVEC	blood vessel:	n/a
41	chr12:106641486-106641536	HepG2	liver:	n/a
42	chr12:106641994-106642044	PANC-1	pancreas:	n/a
43	chr12:106641134-106641184	Jurkat	blood:	n/a
44	chr12:106642001-106642051	A549	lung:	n/a
45	chr12:106641994-106642044	AG10803	skin:	n/a
46	chr12:106641008-106641058	HCF	heart:	n/a
47	chr12:106642001-106642051	SKMC	muscle:	n/a
48	chr12:106641994-106642044	Hela-S3	cervix:	n/a
49	chr12:106642001-106642051	HMEC	breast:	n/a
50	chr12:106642001-106642051	HRE	kidney:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106634944..106646449-chr12:106667585..106679535,27	MCF-7	breast:
2	chr12:106639693..106641308-chr12:106715072..106718036,2	MCF-7	breast:
3	chr12:106640063..106644049-chr12:106694395..106698756,11	MCF-7	breast:
4	chr12:106641882..106643930-chr12:106685440..106687264,2	MCF-7	breast:
5	chr12:106641570..106642137-chr12:106697112..106697741,2	MCF-7	breast:
6	chr12:106642113..106643655-chr12:106665361..106667243,2	MCF-7	breast:
7	chr12:105500524..105503114-chr12:106640734..106642263,2	MCF-7	breast:
8	chr12:106640861..106643735-chr12:106674267..106678317,3	MCF-7	breast:
9	chr12:106640559..106643459-chr12:107485293..107487296,2	K562	blood:
10	chr12:106639346..106644112-chr12:106694122..106698214,13	MCF-7	breast:
11	chr12:106639673..106643649-chr12:106748400..106753718,9	MCF-7	breast:
12	chr12:106640021..106643402-chr12:106749618..106753030,5	MCF-7	breast:
13	chr12:106622589..106625717-chr12:106638331..106640361,3	MCF-7	breast:
14	chr12:106531582..106534564-chr12:106638638..106642825,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCP11L2-1	chr12:106642520-106642537	XLOC_009869
2	lnc-NUAK1-2	chr12:106640493-106640734	ENSG00000258355.1

No data

Variant related genes	Relation type
CKAP4	TF binding region
ENSG00000258355	TF binding region
CKAP4	CpG island
ENSG00000258355	CpG island
ENSG00000136026	chromatin interactions
ENSG00000257548	chromatin interactions
ENSG00000013503	chromatin interactions
ENSG00000008405	chromatin interactions
ENSG00000257999	chromatin interactions
ENSG00000238609	chromatin interactions
ENSG00000136051	chromatin interactions
ENSG00000166046	chromatin interactions
ENSG00000074590	chromatin interactions
PTP4A1	miRNA target sites

Extended variants
information (count: 68 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556136843	chr12:106640263-106640264	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs557094241	chr12:106640286-106640287	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs11112916	chr12:106640346-106640347	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs573939620	chr12:106640367-106640368	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs370589840	chr12:106640421-106640422	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs150847080	chr12:106640457-106640458	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs563788133	chr12:106640462-106640463	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs553098626	chr12:106640499-106640500	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
9	rs12830330	chr12:106640518-106640519	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs111606181	chr12:106640575-106640576	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
11	rs544841292	chr12:106640579-106640580	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
12	rs541292231	chr12:106640605-106640606	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
13	rs79281181	chr12:106640615-106640616	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
14	rs193022251	chr12:106640634-106640635	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
15	rs529504305	chr12:106640654-106640655	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
16	rs73384383	chr12:106640668-106640669	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs144313161	chr12:106640687-106640688	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs529664376	chr12:106640719-106640720	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
19	rs372650098	chr12:106640727-106640728	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
20	rs546615555	chr12:106640773-106640774	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	10 gene(s)	Overlapped CNVs	n/a
21	rs566611301	chr12:106640898-106640899	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs532228112	chr12:106640979-106640980	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs1148422	chr12:106640981-106640982	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs184719248	chr12:106641030-106641031	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs537355660	chr12:106641039-106641040	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs374496390	chr12:106641075-106641076	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs368446858	chr12:106641101-106641102	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs201998196	chr12:106641117-106641118	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs200990380	chr12:106641198-106641199	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs188646596	chr12:106641204-106641205	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs181386764	chr12:106641250-106641251	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs545073070	chr12:106641268-106641269	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs374143471	chr12:106641290-106641291	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs61942134	chr12:106641297-106641298	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs575354598	chr12:106641334-106641335	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs544179575	chr12:106641343-106641344	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs572619681	chr12:106641347-106641348	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs371991101	chr12:106641363-106641364	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs576389141	chr12:106641377-106641378	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs561280299	chr12:106641484-106641485	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs368519473	chr12:106641490-106641491	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs111475395	chr12:106641668-106641669	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs574774303	chr12:106641729-106641730	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs540264633	chr12:106641981-106641982	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs560167063	chr12:106642036-106642037	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs532264927	chr12:106642074-106642075	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs552210862	chr12:106642101-106642102	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs141030365	chr12:106642139-106642140	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs549282173	chr12:106642168-106642169	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs75834224	chr12:106642172-106642173	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106625200-106640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:106634200-106640600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:106634200-106640600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:106637600-106640800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:106638000-106640600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:106638600-106640400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:106638600-106640600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr12:106638600-106640600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:106638600-106640600	Enhancers	Small Intestine	intestine
10	chr12:106638600-106640800	Flanking Active TSS	HUVEC	blood vessel
11	chr12:106638800-106640400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:106638800-106640400	Enhancers	Brain Substantia Nigra	brain
13	chr12:106638800-106640400	Enhancers	Placenta	Placenta
14	chr12:106638800-106640400	Enhancers	Psoas Muscle	Psoas
15	chr12:106638800-106640600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr12:106638800-106640600	Enhancers	Spleen	Spleen
17	chr12:106638800-106640800	Flanking Active TSS	Hela-S3	cervix
18	chr12:106638800-106641000	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr12:106638800-106641200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr12:106639000-106640400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:106639000-106640400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr12:106639000-106640600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:106639000-106640600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr12:106639000-106641200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr12:106639200-106640400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:106639200-106642400	Active TSS	HSMM	muscle
27	chr12:106639200-106642400	Active TSS	NHLF	lung
28	chr12:106639200-106642800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr12:106639400-106642600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:106639600-106640400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:106639600-106640400	Enhancers	Brain Cingulate Gyrus	brain
32	chr12:106639600-106640600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:106639600-106640600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr12:106639600-106640600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:106639600-106640600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:106639600-106640600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:106639600-106640800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:106639600-106640800	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr12:106639600-106640800	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr12:106639600-106640800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr12:106639600-106640800	Flanking Active TSS	NHEK	skin
42	chr12:106639600-106641000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:106639600-106641200	Flanking Active TSS	Colonic Mucosa	Colon
44	chr12:106639600-106642600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:106639800-106640400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr12:106639800-106640400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:106639800-106640400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr12:106639800-106640400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:106639800-106640400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:106639800-106640400	Flanking Active TSS	Fetal Brain Male	brain

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