Variant report

Variant	rs7676488
Chromosome Location	chr4:7891135-7891136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10005650	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10024625	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2386054	0.80[EUR][1000 genomes]
rs28425587	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28434072	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28498817	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28607438	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28668205	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28675899	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28735181	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28735634	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28842326	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4401450	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4478172	0.83[ASN][1000 genomes]
rs4488938	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4696771	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61081420	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61214925	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6605361	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6820041	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6839086	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6842743	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71175434	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73073924	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73073939	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73088591	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73088594	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73090508	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73090513	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73090514	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7376703	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7691757	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7695510	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9330346	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9654093	0.85[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:49 , 50 per page) page: 1

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	chr4:7881800-7896600	Weak transcription	Lung	lung
9	chr4:7883000-7891800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:7883200-7891800	Weak transcription	Ovary	ovary
11	chr4:7883200-7893000	Weak transcription	Left Ventricle	heart
12	chr4:7883200-7904400	Weak transcription	Gastric	stomach
13	chr4:7884800-7892800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:7886000-7895800	Weak transcription	Esophagus	oesophagus
15	chr4:7886800-7904400	Weak transcription	Small Intestine	intestine
16	chr4:7887200-7891800	Weak transcription	HepG2	liver
17	chr4:7888200-7893000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:7888600-7891800	Weak transcription	Brain Anterior Caudate	brain
19	chr4:7888800-7892000	Weak transcription	Brain Germinal Matrix	brain
20	chr4:7888800-7892400	Weak transcription	Fetal Brain Male	brain
21	chr4:7889000-7891800	Weak transcription	Stomach Mucosa	stomach
22	chr4:7889000-7892400	Weak transcription	Adipose Nuclei	Adipose
23	chr4:7889000-7892600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:7889000-7892600	Weak transcription	Aorta	Aorta
25	chr4:7889200-7892000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:7889200-7892400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:7889200-7901200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:7889400-7891800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:7889400-7891800	Weak transcription	HUVEC	blood vessel
30	chr4:7889400-7891800	Weak transcription	NHLF	lung
31	chr4:7889400-7892400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr4:7889600-7891400	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr4:7889600-7891800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr4:7889600-7892600	Weak transcription	Fetal Kidney	kidney
35	chr4:7889800-7891600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr4:7889800-7891800	Weak transcription	Fetal Heart	heart
37	chr4:7889800-7891800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:7890200-7891400	Weak transcription	NH-A	brain
39	chr4:7890200-7892200	Weak transcription	HSMM	muscle
40	chr4:7890400-7891600	Weak transcription	Colon Smooth Muscle	Colon
41	chr4:7890400-7891600	Weak transcription	Osteobl	bone
42	chr4:7890400-7891800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:7890400-7891800	Weak transcription	HSMMtube	muscle
44	chr4:7890600-7891800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:7890600-7891800	Weak transcription	NHEK	skin
46	chr4:7890800-7891200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
47	chr4:7890800-7893000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:7890800-7893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:7891000-7891600	Weak transcription	NHDF-Ad	bronchial

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