Variant report

Variant	rs7551595
Chromosome Location	chr1:86839691-86839692
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs5744360	1.00[AMR][1000 genomes]
rs6657379	1.00[AMR][1000 genomes]
rs6677441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6695743	1.00[AMR][1000 genomes]
rs7516602	1.00[AMR][1000 genomes]
rs7545098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7549500	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871866	chr1:86726619-86851420	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
5	nsv871081	chr1:86806372-86892819	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	esv1793594	chr1:86833653-86858957	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86808600-86842800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:86813800-86842600	Weak transcription	Fetal Heart	heart
3	chr1:86815200-86860200	Weak transcription	Fetal Brain Male	brain
4	chr1:86816000-86842400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:86817200-86843800	Weak transcription	Small Intestine	intestine
6	chr1:86817600-86843000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:86817800-86840000	Weak transcription	GM12878-XiMat	blood
8	chr1:86817800-86842400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:86818000-86842600	Weak transcription	Fetal Intestine Small	intestine
10	chr1:86818000-86843200	Weak transcription	Pancreas	Pancrea
11	chr1:86818000-86851600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:86818200-86841000	Weak transcription	Fetal Kidney	kidney
13	chr1:86819800-86840200	Weak transcription	Brain Angular Gyrus	brain
14	chr1:86819800-86840200	Weak transcription	HMEC	breast
15	chr1:86819800-86842200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:86819800-86842600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:86819800-86843000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:86819800-86843000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:86820200-86840200	Weak transcription	Brain Anterior Caudate	brain
20	chr1:86820200-86841200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:86820200-86842600	Weak transcription	Brain Germinal Matrix	brain
22	chr1:86820200-86843400	Weak transcription	Left Ventricle	heart
23	chr1:86820200-86854400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:86820200-86854800	Weak transcription	HSMMtube	muscle
25	chr1:86820400-86842400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:86820400-86842800	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:86820400-86842800	Weak transcription	Placenta	Placenta
28	chr1:86820400-86845400	Weak transcription	Hela-S3	cervix
29	chr1:86820400-86846200	Weak transcription	NHLF	lung
30	chr1:86820400-86846400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:86820400-86847000	Weak transcription	Liver	Liver
32	chr1:86820400-86848000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:86820400-86860200	Weak transcription	NHEK	skin
34	chr1:86820600-86840000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:86820600-86840000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:86820600-86840000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:86820600-86840200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:86820600-86842800	Weak transcription	Brain Substantia Nigra	brain
39	chr1:86820600-86843000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:86820600-86848000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:86820800-86842000	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:86822400-86840000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr1:86822400-86846200	Weak transcription	Gastric	stomach
44	chr1:86823000-86843000	Weak transcription	Ovary	ovary
45	chr1:86824000-86840200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:86824000-86841400	Weak transcription	Fetal Intestine Large	intestine
47	chr1:86824000-86843000	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:86824000-86848200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr1:86825600-86840200	Weak transcription	Primary T cells from cord blood	blood
50	chr1:86825600-86842800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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