Variant report

Variant	rs4696771
Chromosome Location	chr4:7889108-7889109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7877407..7880268-chr4:7886566..7889549,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10005650	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10024625	0.90[ASN][1000 genomes]
rs28434072	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28607438	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28668205	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28675899	0.85[ASN][1000 genomes]
rs28735181	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28735634	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28842326	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4401450	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4488938	0.85[ASN][1000 genomes]
rs61081420	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61214925	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6605361	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6820041	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6839086	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6842743	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs71175434	0.81[AMR][1000 genomes]
rs73073924	0.91[ASN][1000 genomes]
rs73073939	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088591	0.86[ASN][1000 genomes]
rs73088594	0.86[ASN][1000 genomes]
rs73090508	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73090513	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73090514	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7376703	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7676488	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7691757	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7695510	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9330346	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9654093	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7857800-7896400	Weak transcription	Spleen	Spleen
2	chr4:7873600-7894000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:7874600-7892800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:7874600-7894000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:7876000-7891800	Weak transcription	Hela-S3	cervix
6	chr4:7878200-7898400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:7879400-7891800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:7881800-7889800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:7881800-7896600	Weak transcription	Lung	lung
10	chr4:7883000-7891800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:7883200-7889400	Weak transcription	Pancreas	Pancrea
12	chr4:7883200-7891800	Weak transcription	Ovary	ovary
13	chr4:7883200-7893000	Weak transcription	Left Ventricle	heart
14	chr4:7883200-7904400	Weak transcription	Gastric	stomach
15	chr4:7884800-7889600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:7884800-7889800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:7884800-7892800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:7885000-7890000	Weak transcription	NHEK	skin
19	chr4:7886000-7895800	Weak transcription	Esophagus	oesophagus
20	chr4:7886600-7889800	Enhancers	Rectal Smooth Muscle	rectum
21	chr4:7886600-7890200	Enhancers	Fetal Muscle Leg	muscle
22	chr4:7886800-7889400	Enhancers	Colon Smooth Muscle	Colon
23	chr4:7886800-7904400	Weak transcription	Small Intestine	intestine
24	chr4:7887000-7889200	Enhancers	NH-A	brain
25	chr4:7887000-7889400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:7887000-7890400	Enhancers	HSMMtube	muscle
27	chr4:7887200-7889200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:7887200-7889600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:7887200-7890600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:7887200-7891800	Weak transcription	HepG2	liver
31	chr4:7887400-7889400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:7887400-7889600	Weak transcription	Fetal Intestine Small	intestine
33	chr4:7887400-7889600	Enhancers	HSMM	muscle
34	chr4:7887400-7890200	Enhancers	Fetal Stomach	stomach
35	chr4:7887600-7889200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr4:7887600-7889400	Enhancers	NHLF	lung
37	chr4:7887800-7889200	Flanking Active TSS	Fetal Heart	heart
38	chr4:7887800-7889800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr4:7887800-7890200	Enhancers	Fetal Lung	lung
40	chr4:7888000-7889200	Enhancers	NHDF-Ad	bronchial
41	chr4:7888000-7889400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:7888000-7889400	Enhancers	HUVEC	blood vessel
43	chr4:7888200-7889200	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr4:7888200-7893000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:7888400-7889400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:7888600-7889200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr4:7888600-7889200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr4:7888600-7889800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:7888600-7891800	Weak transcription	Brain Anterior Caudate	brain
50	chr4:7888800-7889400	Weak transcription	Fetal Kidney	kidney

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