Variant report

Variant	rs6965091
Chromosome Location	chr7:4046936-4046937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4046706..4048261-chr7:4069648..4071782,2	MCF-7	breast:
2	chr7:4040678..4043127-chr7:4045371..4048352,2	K562	blood:
3	chr7:4041627..4044131-chr7:4046523..4048352,2	K562	blood:
4	chr7:3965980..3968136-chr7:4044962..4047552,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10226621	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10240845	1.00[CEU][hapmap]
rs10248212	1.00[CEU][hapmap]
rs10270792	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11973168	0.89[YRI][hapmap]
rs11973501	0.88[YRI][hapmap]
rs11978290	0.83[AMR][1000 genomes]
rs11980257	0.89[YRI][hapmap]
rs12386628	1.00[CEU][hapmap]
rs17134129	1.00[YRI][hapmap]
rs28494068	0.84[EUR][1000 genomes]
rs58873518	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61735696	0.84[EUR][1000 genomes]
rs6462571	0.81[YRI][hapmap]
rs7456402	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7780738	0.84[EUR][1000 genomes]
rs920800	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs920801	0.84[EUR][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	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1029406	chr7:3860894-4477095	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538685	chr7:3860894-4477095	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026410	chr7:3869104-4383606	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025497	chr7:3905444-4176032	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv538686	chr7:3905444-4176032	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv433014	chr7:3910039-4054769	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv464274	chr7:3955516-4613607	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv464275	chr7:3955516-4613607	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv464276	chr7:3955516-4613607	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv464277	chr7:3955516-4613607	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv464278	chr7:3955516-4613607	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv605939	chr7:3955516-4613607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1019305	chr7:3991646-4276004	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1033687	chr7:4006020-4267871	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv538688	chr7:4006020-4267871	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv917252	chr7:4017819-4374090	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv527624	chr7:4027536-4424054	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4022000-4057800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:4031000-4050000	Weak transcription	Pancreas	Pancrea
3	chr7:4031200-4058400	Weak transcription	Gastric	stomach
4	chr7:4035400-4048800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:4038000-4054800	Weak transcription	Spleen	Spleen
6	chr7:4040800-4049000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:4042000-4054000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:4043600-4049200	Weak transcription	Aorta	Aorta
9	chr7:4044600-4052600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:4045200-4047200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:4045400-4047000	Flanking Active TSS	HepG2	liver
12	chr7:4045600-4047000	Flanking Active TSS	NHEK	skin
13	chr7:4045600-4047200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:4045800-4047000	Enhancers	Liver	Liver
15	chr7:4045800-4047200	Enhancers	Fetal Brain Female	brain
16	chr7:4045800-4047800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:4046000-4047000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:4046000-4047000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr7:4046000-4047000	Enhancers	Fetal Intestine Large	intestine
20	chr7:4046000-4047200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:4046000-4047800	Enhancers	Fetal Brain Male	brain
22	chr7:4046200-4047000	Enhancers	Duodenum Mucosa	Duodenum
23	chr7:4046200-4047200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr7:4046200-4047200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:4046200-4047200	Enhancers	Brain Germinal Matrix	brain
26	chr7:4046200-4047200	Enhancers	Fetal Stomach	stomach
27	chr7:4046200-4055600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:4046400-4047000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:4046400-4047200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:4046400-4047200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:4046400-4047200	Enhancers	Fetal Intestine Small	intestine
32	chr7:4046400-4047400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr7:4046400-4047800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:4046400-4051400	Enhancers	Fetal Muscle Leg	muscle
35	chr7:4046600-4047000	Enhancers	Stomach Mucosa	stomach
36	chr7:4046600-4047200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:4046600-4047200	Enhancers	Fetal Thymus	thymus
38	chr7:4046600-4048600	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:4046600-4048600	Weak transcription	HSMMtube	muscle
40	chr7:4046600-4048800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:4046600-4051800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:4046600-4055800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:4046800-4047200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr7:4046800-4048600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:4046800-4048600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:4046800-4048800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:4046800-4048800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:4046800-4049200	Weak transcription	Brain Anterior Caudate	brain
49	chr7:4046800-4049400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:4046800-4049400	Weak transcription	Fetal Lung	lung

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