Variant report

Variant	rs3756791
Chromosome Location	chr6:75914326-75914327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr6:75913466-75914332	Hela-S3	cervix:	n/a	n/a
2	RAD21	chr6:75913862-75914329	MCF-7	breast:	n/a	n/a
3	E2F4	chr6:75913993-75914336	MCF10A-Er-Src	breast:	n/a	n/a
4	SMC3	chr6:75913424-75916272	Hela-S3	cervix:	n/a	n/a
5	RAD21	chr6:75913732-75914440	H1-hESC	embryonic stem cell:	n/a	n/a
6	SUZ12	chr6:75913908-75917770	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAZ	chr6:75913538-75917088	IMR90	lung:	n/a	chr6:75914516-75914523
8	SMARCC1	chr6:75913598-75916305	Hela-S3	cervix:	n/a	n/a
9	JUND	chr6:75914035-75914380	A549	lung:	n/a	n/a
10	FOSL2	chr6:75913873-75914397	A549	lung:	n/a	n/a
11	JUND	chr6:75913923-75916368	H1-hESC	embryonic stem cell:	n/a	chr6:75915979-75915988 chr6:75914588-75914597
12	WRNIP1	chr6:75914048-75914508	GM12878	blood:	n/a	n/a
13	CTCF	chr6:75913971-75914397	A549	lung:	n/a	n/a
14	JUND	chr6:75913743-75914499	SK-N-SH	brain:	n/a	n/a
15	TCF7L2	chr6:75913564-75916132	Hela-S3	cervix:	n/a	n/a
16	SUZ12	chr6:75913870-75918221	NT2-D1	testis:	n/a	n/a
17	FOS	chr6:75913937-75914340	MCF10A-Er-Src	breast:	n/a	chr6:75914158-75914169
18	RAD21	chr6:75913821-75914442	MCF-7	breast:	n/a	n/a
19	MAX	chr6:75914258-75916158	ECC-1	luminal epithelium:	n/a	chr6:75914516-75914523
20	CTCF	chr6:75913843-75914504	HCT-116	colon:	n/a	n/a
21	POLR2A	chr6:75913472-75916719	IMR90	lung:	n/a	n/a
22	RAD21	chr6:75913866-75914339	SK-N-SH_RA	brain:	n/a	n/a
23	SMC3	chr6:75913886-75914329	GM12878	blood:	n/a	n/a
24	SMARCB1	chr6:75914038-75916101	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr6:75913849-75916126	ProgFib	skin:	n/a	n/a
26	JUND	chr6:75913969-75914333	K562	blood:	n/a	n/a
27	RAD21	chr6:75913447-75914499	SK-N-SH	brain:	n/a	n/a
28	CTCF	chr6:75913869-75914368	MCF-7	breast:	n/a	n/a
29	FOS	chr6:75913965-75914361	HUVEC	blood vessel:	n/a	chr6:75914158-75914169
30	FOSL2	chr6:75914045-75914442	SK-N-SH	brain:	n/a	n/a
31	CTCF	chr6:75913781-75914878	SK-N-SH	brain:	n/a	n/a
32	RAD21	chr6:75913772-75914420	ECC-1	luminal epithelium:	n/a	n/a
33	MAFK	chr6:75913516-75914413	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr6:75913730-75914419	H1-hESC	embryonic stem cell:	n/a	chr6:75914011-75914020
35	RAD21	chr6:75913672-75914514	HCT-116	colon:	n/a	n/a
36	CTCF	chr6:75913876-75914384	MCF-7	breast:	n/a	n/a
37	ZBTB7A	chr6:75914031-75915208	ECC-1	luminal epithelium:	n/a	chr6:75914429-75914438
38	MYC	chr6:75913755-75914555	MCF10A-Er-Src	breast:	n/a	chr6:75914516-75914523
39	CTCF	chr6:75913906-75914355	GM12878	blood:	n/a	n/a
40	RAD21	chr6:75913447-75914360	Hela-S3	cervix:	n/a	n/a
41	RAD21	chr6:75913696-75914554	HCT-116	colon:	n/a	n/a
42	SMC3	chr6:75913610-75914548	SK-N-SH	brain:	n/a	n/a
43	JUND	chr6:75913871-75914406	SK-N-SH	brain:	n/a	n/a
44	MXI1	chr6:75913287-75916865	IMR90	lung:	n/a	n/a
45	MYC	chr6:75913668-75914352	MCF10A-Er-Src	breast:	n/a	n/a
46	MAZ	chr6:75913641-75914335	Hela-S3	cervix:	n/a	n/a
47	BACH1	chr6:75913937-75916032	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr6:75913801-75914440	A549	lung:	n/a	n/a
49	CTCF	chr6:75913725-75914565	A549	lung:	n/a	n/a
50	CTCF	chr6:75913891-75914392	IMR90	lung:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:75608999..75611267-chr6:75912636..75915418,2	MCF-7	breast:
2	chr6:74448984..74449504-chr6:75913700..75914546,2	K562	blood:
3	chr6:75609148..75609683-chr6:75913367..75914426,3	MCF-7	breast:
4	chr6:75649112..75649762-chr6:75913676..75914528,2	MCF-7	breast:
5	chr6:75912731..75914884-chr6:75919763..75921276,2	K562	blood:
6	chr6:74679477..74680332-chr6:75914060..75914724,3	MCF-7	breast:
7	chr6:75910258..75913298-chr6:75914127..75916730,7	MCF-7	breast:
8	chr6:75861359..75863350-chr6:75912949..75915219,2	MCF-7	breast:

No data

Variant related genes	Relation type
COL12A1	TF binding region
ENSG00000111799	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10484915	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs1203210	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1203215	0.90[EUR][1000 genomes]
rs12176508	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12198145	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12215389	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1323069	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1407733	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1407734	1.00[CEU][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1474847	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16886237	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16886240	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs171261	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs171264	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs173274	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs187067	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs1967709	1.00[CEU][hapmap];0.97[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1998454	0.89[CEU][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs240363	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs240365	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs240366	0.90[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs240370	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs240384	0.83[ASN][1000 genomes]
rs240394	0.90[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs240395	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs240399	0.90[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs240408	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs240411	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs240413	0.87[ASN][1000 genomes]
rs240414	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs240415	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs240417	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs240418	0.90[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs240420	0.84[EUR][1000 genomes]
rs240421	0.90[EUR][1000 genomes]
rs240422	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs240433	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs240721	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs240741	0.94[JPT][hapmap]
rs3777505	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs3777507	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3777508	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3777509	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3777510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs409536	0.90[EUR][1000 genomes]
rs415416	0.90[EUR][1000 genomes]
rs431116	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs436898	0.90[EUR][1000 genomes]
rs511970	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs588691	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs601846	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs656182	0.90[EUR][1000 genomes]
rs73463812	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73747435	0.93[ASN][1000 genomes]
rs73747437	0.94[ASN][1000 genomes]
rs743003	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs743004	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs743005	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7768671	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs910523	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9293997	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9360895	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs9443160	1.00[CEU][hapmap];0.97[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022377	chr6:75762463-75919592	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv538309	chr6:75762463-75919592	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv830697	chr6:75763095-75915029	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv463155	chr6:75789526-75980419	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv603762	chr6:75789526-75980419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv886181	chr6:75852488-75919484	Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
11	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75908400-75915400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:75911800-75916400	Active TSS	HSMMtube	muscle
3	chr6:75912600-75915000	Weak transcription	Gastric	stomach
4	chr6:75912800-75916200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:75912800-75916600	Active TSS	Ovary	ovary
6	chr6:75913000-75914600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:75913000-75915000	Active TSS	Stomach Smooth Muscle	stomach
8	chr6:75913000-75916600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:75913000-75918400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
10	chr6:75913200-75916400	Active TSS	NHLF	lung
11	chr6:75913400-75914400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
12	chr6:75913400-75914400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
13	chr6:75913400-75916600	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr6:75913600-75916600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
15	chr6:75913600-75917200	Active TSS	NHDF-Ad	bronchial
16	chr6:75913600-75917400	Bivalent/Poised TSS	Fetal Kidney	kidney
17	chr6:75913600-75918400	Active TSS	Rectal Smooth Muscle	rectum
18	chr6:75913800-75914400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:75913800-75914400	Active TSS	Psoas Muscle	Psoas
20	chr6:75913800-75914800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
21	chr6:75913800-75914800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:75913800-75914800	Active TSS	A549	lung
23	chr6:75913800-75915000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:75913800-75915000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:75913800-75915200	Bivalent Enhancer	Liver	Liver
26	chr6:75913800-75915200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
27	chr6:75913800-75915400	Active TSS	Right Ventricle	heart
28	chr6:75913800-75916000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:75913800-75916200	Active TSS	NHEK	skin
30	chr6:75913800-75916400	Active TSS	Colon Smooth Muscle	Colon
31	chr6:75913800-75916600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:75913800-75917200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr6:75913800-75917600	Active TSS	Placenta Amnion	Placenta Amnion
34	chr6:75913800-75918000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:75913800-75918400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr6:75913800-75918600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:75913800-75918800	Active TSS	Right Atrium	heart
38	chr6:75914000-75914400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
39	chr6:75914000-75914400	Active TSS	Brain Angular Gyrus	brain
40	chr6:75914000-75914400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr6:75914000-75914800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:75914000-75915000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
43	chr6:75914000-75915600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
44	chr6:75914000-75916000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:75914000-75916000	Active TSS	Hela-S3	cervix
46	chr6:75914000-75916200	Active TSS	Muscle Satellite Cultured Cells	--
47	chr6:75914000-75916200	Active TSS	HMEC	breast
48	chr6:75914000-75916200	Active TSS	HSMM	muscle
49	chr6:75914000-75916200	Active TSS	NH-A	brain
50	chr6:75914000-75916200	Active TSS	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links