Variant report

Variant	rs7608987
Chromosome Location	chr2:86019495-86019496
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	chr2:86019488..86022075-chr2:86030495..86033177,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10205074	0.90[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13385658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13429794	0.89[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1370543	1.00[EUR][1000 genomes]
rs1370544	1.00[EUR][1000 genomes]
rs1518988	1.00[EUR][1000 genomes]
rs2001594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2049016	1.00[EUR][1000 genomes]
rs3046647	1.00[AMR][1000 genomes]
rs56790095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59512984	1.00[EUR][1000 genomes]
rs60869707	1.00[EUR][1000 genomes]
rs60990198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727176	1.00[EUR][1000 genomes]
rs72928918	1.00[EUR][1000 genomes]
rs72928927	1.00[EUR][1000 genomes]
rs72928930	1.00[EUR][1000 genomes]
rs72928931	1.00[EUR][1000 genomes]
rs72928938	1.00[EUR][1000 genomes]
rs72928941	1.00[EUR][1000 genomes]
rs72928947	1.00[EUR][1000 genomes]
rs72928948	1.00[EUR][1000 genomes]
rs72928951	1.00[EUR][1000 genomes]
rs72928954	1.00[EUR][1000 genomes]
rs72930750	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7605132	1.00[EUR][1000 genomes]
rs934776	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv979290	chr2:86015956-86029004	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86001400-86023000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:86001600-86020000	Weak transcription	Fetal Brain Female	brain
3	chr2:86001600-86023000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:86006800-86020000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:86013200-86023000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:86013600-86023200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:86014000-86019600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:86014200-86023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:86015000-86019600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:86015200-86020000	Weak transcription	Liver	Liver
11	chr2:86015200-86020000	Weak transcription	Colonic Mucosa	Colon
12	chr2:86015400-86024800	Enhancers	Brain Angular Gyrus	brain
13	chr2:86015600-86020400	Genic enhancers	HSMM	muscle
14	chr2:86016000-86019600	Weak transcription	Gastric	stomach
15	chr2:86016000-86026200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:86016200-86022600	Weak transcription	Fetal Intestine Small	intestine
17	chr2:86016800-86022000	Enhancers	NHLF	lung
18	chr2:86016800-86023600	Enhancers	Brain Anterior Caudate	brain
19	chr2:86016800-86024400	Enhancers	Fetal Brain Male	brain
20	chr2:86017000-86021200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:86017200-86019600	Weak transcription	Fetal Heart	heart
22	chr2:86017200-86020400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr2:86017200-86021200	Enhancers	Brain Hippocampus Middle	brain
24	chr2:86017200-86023400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:86017200-86024600	Enhancers	A549	lung
26	chr2:86017200-86024800	Enhancers	Brain Cingulate Gyrus	brain
27	chr2:86017400-86019800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:86017400-86020600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:86017400-86020600	Enhancers	Ovary	ovary
30	chr2:86017400-86024800	Enhancers	Brain Substantia Nigra	brain
31	chr2:86017800-86020600	Enhancers	Right Atrium	heart
32	chr2:86017800-86020600	Enhancers	Right Ventricle	heart
33	chr2:86017800-86025200	Enhancers	Adipose Nuclei	Adipose
34	chr2:86018200-86019600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:86018200-86019600	Weak transcription	Spleen	Spleen
36	chr2:86018400-86019800	Weak transcription	HepG2	liver
37	chr2:86018400-86020000	Weak transcription	Stomach Mucosa	stomach
38	chr2:86018400-86020400	Enhancers	Placenta	Placenta
39	chr2:86018600-86019600	Weak transcription	Brain Germinal Matrix	brain
40	chr2:86018600-86020800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:86018600-86022200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:86018600-86024600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:86018800-86019600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:86018800-86020000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:86018800-86020400	Enhancers	Left Ventricle	heart
46	chr2:86018800-86020400	Enhancers	NH-A	brain
47	chr2:86018800-86021400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr2:86018800-86024200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:86018800-86024600	Enhancers	Colon Smooth Muscle	Colon
50	chr2:86018800-86024600	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links