Variant report

Variant	rs6968277
Chromosome Location	chr7:12443795-12443796
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF7	chr7:12443097-12443851	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYC	chr7:12442876-12444310	K562	blood:	n/a	chr7:12443233-12443242
3	POLR2A	chr7:12442750-12444089	K562	blood:	n/a	n/a
4	RCOR1	chr7:12443006-12444411	K562	blood:	n/a	n/a
5	TAF1	chr7:12442780-12443896	K562	blood:	n/a	n/a
6	POLR2A	chr7:12442976-12444516	K562	blood:	n/a	n/a
7	CUX1	chr7:12442957-12443842	K562	blood:	n/a	n/a
8	TCF12	chr7:12443125-12443905	ECC-1	luminal epithelium:	n/a	n/a
9	CREB1	chr7:12443080-12443849	H1-hESC	embryonic stem cell:	n/a	n/a
10	TBP	chr7:12443041-12443841	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr7:12442915-12444080	A549	lung:	n/a	chr7:12443233-12443242
12	MYC	chr7:12442849-12444429	K562	blood:	n/a	chr7:12443233-12443242
13	CTBP2	chr7:12443038-12444271	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr7:12442939-12444336	HCT-116	colon:	n/a	chr7:12443233-12443242
15	TCF7L2	chr7:12443066-12444146	Hela-S3	cervix:	n/a	n/a
16	MAX	chr7:12443126-12444171	NB4	blood:	n/a	chr7:12443233-12443242
17	IRF1	chr7:12442425-12444034	K562	blood:	n/a	n/a
18	MAZ	chr7:12442875-12444216	K562	blood:	n/a	chr7:12443233-12443242
19	HA-E2F1	chr7:12442913-12444167	MCF-7	breast:	n/a	n/a
20	POLR2A	chr7:12443039-12443891	PANC-1	pancreas:	n/a	n/a
21	TBP	chr7:12442833-12444212	K562	blood:	n/a	n/a
22	POLR2A	chr7:12442849-12444540	K562	blood:	n/a	n/a
23	POLR2A	chr7:12442965-12443869	HCT-116	colon:	n/a	n/a
24	TBL1XR1	chr7:12441607-12444212	K562	blood:	n/a	n/a
25	POLR2A	chr7:12443042-12443902	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr7:12443170-12443879	NB4	blood:	n/a	n/a
27	MAX	chr7:12442884-12444453	K562	blood:	n/a	chr7:12443233-12443242
28	POLR2A	chr7:12442909-12443835	H1-hESC	embryonic stem cell:	n/a	n/a
29	TCF7L2	chr7:12443198-12444057	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr7:12443052-12443865	ECC-1	luminal epithelium:	n/a	n/a
31	TBL1XR1	chr7:12442792-12444242	K562	blood:	n/a	n/a
32	MAX	chr7:12442961-12444232	K562	blood:	n/a	chr7:12443233-12443242
33	HEY1	chr7:12442781-12444028	K562	blood:	n/a	n/a
34	POLR2A	chr7:12442875-12444428	K562	blood:	n/a	n/a
35	POLR2A	chr7:12442931-12443862	K562	blood:	n/a	n/a
36	MEF2A	chr7:12443318-12443809	K562	blood:	n/a	n/a
37	MAX	chr7:12442804-12444100	ECC-1	luminal epithelium:	n/a	chr7:12443233-12443242
38	UBTF	chr7:12442477-12443869	K562	blood:	n/a	n/a
39	NR2F2	chr7:12443004-12443937	K562	blood:	n/a	chr7:12443105-12443120
40	POLR2A	chr7:12442779-12444617	K562	blood:	n/a	n/a
41	JUND	chr7:12442886-12444171	K562	blood:	n/a	n/a
42	MYC	chr7:12442974-12444192	K562	blood:	n/a	chr7:12443233-12443242
43	KAP1	chr7:12442696-12444041	HEK293	kidney:	n/a	n/a
44	POLR2A	chr7:12443006-12443834	HEK293	kidney:	n/a	n/a
45	MAX	chr7:12442718-12444384	HCT-116	colon:	n/a	chr7:12443233-12443242
46	STAT5A	chr7:12442779-12444099	K562	blood:	n/a	chr7:12443545-12443557
47	POLR2A	chr7:12443000-12443876	SK-N-MC	brain:	n/a	n/a
48	BCLAF1	chr7:12443085-12443960	K562	blood:	n/a	chr7:12443627-12443636 chr7:12443692-12443705
49	SMARCB1	chr7:12443063-12443932	Hela-S3	cervix:	n/a	n/a
50	ATF1	chr7:12442940-12444036	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12441983..12444239-chr7:12724759..12726454,2	K562	blood:

Variant related genes	Relation type
VWDE	TF binding region
ENSG00000271253	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10229433	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10251962	1.00[JPT][hapmap]
rs10267801	0.85[EUR][1000 genomes]
rs10270435	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10271597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10273416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10276545	0.86[ASN][1000 genomes]
rs11971590	1.00[JPT][hapmap]
rs1595800	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs1595802	0.80[CEU][hapmap];0.87[EUR][1000 genomes]
rs17191008	0.81[CEU][hapmap]
rs17274870	0.81[CEU][hapmap]
rs17443848	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17444044	0.86[EUR][1000 genomes]
rs17444141	0.86[EUR][1000 genomes]
rs17444203	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17444259	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17541242	0.86[EUR][1000 genomes]
rs17541464	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2033871	0.81[CEU][hapmap]
rs2053382	0.81[CEU][hapmap];0.81[MEX][hapmap]
rs28566049	0.88[ASN][1000 genomes]
rs57550598	0.86[ASN][1000 genomes]
rs58205663	0.86[ASN][1000 genomes]
rs62448593	0.86[EUR][1000 genomes]
rs62448594	0.86[EUR][1000 genomes]
rs62448596	0.87[EUR][1000 genomes]
rs62448597	0.86[EUR][1000 genomes]
rs62448600	0.86[EUR][1000 genomes]
rs62448602	0.86[EUR][1000 genomes]
rs62448619	0.86[EUR][1000 genomes]
rs62448620	0.86[EUR][1000 genomes]
rs62448621	0.86[EUR][1000 genomes]
rs62448623	0.86[EUR][1000 genomes]
rs6460936	0.81[CEU][hapmap]
rs6460938	0.81[CEU][hapmap]
rs6460942	0.81[CEU][hapmap];0.81[MEX][hapmap]
rs6944134	0.81[CEU][hapmap]
rs6945067	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs6948314	0.81[CEU][hapmap]
rs6948654	0.81[CEU][hapmap]
rs6966791	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs6968695	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs6970095	0.81[CEU][hapmap]
rs7796485	0.81[CEU][hapmap]
rs7802454	0.82[EUR][1000 genomes]
rs7809263	0.86[EUR][1000 genomes]
rs954660	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv1029941	chr7:12351595-12444490	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1034475	chr7:12352210-12444490	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv464373	chr7:12406826-12536336	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv606224	chr7:12406826-12536336	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv887635	chr7:12410112-12474635	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv887636	chr7:12424405-12498138	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv887637	chr7:12424405-12508894	Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv887638	chr7:12424405-12519212	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv464375	chr7:12428803-12505373	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	nsv606226	chr7:12428803-12505373	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	nsv464376	chr7:12429488-12526282	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
16	nsv606227	chr7:12429488-12526282	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	nsv971508	chr7:12431973-12446365	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv516511	chr7:12439672-12479584	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6968277	THSD7A	cis	parietal	SCAN
rs6968277	VWDE	cis	parietal	SCAN
rs6968277	TMEM106B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12438800-12445400	Active TSS	K562	blood
2	chr7:12439600-12444400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:12441400-12443800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:12441400-12443800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:12441400-12444200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr7:12441400-12444200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr7:12441600-12443800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:12441800-12443800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr7:12442000-12444200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:12442400-12444000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:12442400-12444400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:12442600-12443800	Active TSS	Primary T cells from cord blood	blood
13	chr7:12442600-12443800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr7:12442600-12443800	Bivalent/Poised TSS	A549	lung
15	chr7:12442600-12443800	Active TSS	GM12878-XiMat	blood
16	chr7:12442600-12444000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:12442600-12444000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr7:12442600-12444000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr7:12442600-12444000	Active TSS	Brain Angular Gyrus	brain
20	chr7:12442600-12444000	Active TSS	Hela-S3	cervix
21	chr7:12442600-12444200	Active TSS	Brain Anterior Caudate	brain
22	chr7:12442800-12443800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:12442800-12443800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:12442800-12443800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:12442800-12443800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:12442800-12443800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr7:12442800-12443800	Enhancers	Primary B cells from peripheral blood	blood
28	chr7:12442800-12443800	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr7:12442800-12443800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:12442800-12443800	Active TSS	Fetal Kidney	kidney
31	chr7:12442800-12444000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:12442800-12444000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:12442800-12444000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
34	chr7:12442800-12444000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:12442800-12444000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr7:12442800-12444000	Active TSS	Rectal Smooth Muscle	rectum
37	chr7:12442800-12444000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
38	chr7:12442800-12444000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
39	chr7:12442800-12444200	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr7:12442800-12444200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:12442800-12444200	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr7:12443000-12443800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:12443000-12443800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
44	chr7:12443000-12443800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:12443000-12443800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr7:12443000-12443800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
47	chr7:12443000-12443800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr7:12443000-12443800	Flanking Active TSS	Lung	lung
49	chr7:12443000-12443800	Bivalent/Poised TSS	Right Ventricle	heart
50	chr7:12443000-12443800	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links