Variant report

Variant	rs7519594
Chromosome Location	chr1:209810662-209810663
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209804297..209807709-chr1:209809477..209811913,3	MCF-7	breast:
2	chr1:209809942..209814194-chr1:209821440..209824587,3	K562	blood:
3	chr1:209810488..209814194-chr1:209821440..209824229,3	K562	blood:
4	chr1:209805843..209807817-chr1:209809297..209811266,2	K562	blood:
5	chr1:209800870..209803812-chr1:209809987..209812657,3	K562	blood:
6	chr1:209810174..209812266-chr1:209814708..209816997,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2072941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236894	0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2236895	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2282733	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4844482	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs57696453	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6658887	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209787400-209816200	Strong transcription	NHEK	skin
2	chr1:209799800-209814600	Strong transcription	Fetal Intestine Small	intestine
3	chr1:209800000-209813200	Strong transcription	Fetal Intestine Large	intestine
4	chr1:209801200-209811600	Weak transcription	Stomach Mucosa	stomach
5	chr1:209801200-209814800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:209801400-209812800	Weak transcription	Pancreas	Pancrea
7	chr1:209801400-209814800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:209801600-209814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:209801600-209818000	Weak transcription	Spleen	Spleen
10	chr1:209801600-209819800	Weak transcription	Lung	lung
11	chr1:209801800-209812000	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr1:209803600-209813200	Strong transcription	Hela-S3	cervix
13	chr1:209804400-209816600	Weak transcription	Small Intestine	intestine
14	chr1:209805200-209814600	Weak transcription	Adipose Nuclei	Adipose
15	chr1:209805400-209814600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:209805400-209814600	Weak transcription	Right Ventricle	heart
17	chr1:209805400-209816200	Weak transcription	Esophagus	oesophagus
18	chr1:209806200-209813200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:209808000-209814400	Weak transcription	Fetal Stomach	stomach
20	chr1:209808000-209816200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:209808200-209811000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:209808400-209812000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:209808400-209815800	Weak transcription	Colonic Mucosa	Colon
24	chr1:209808600-209814600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:209808800-209812800	Weak transcription	Fetal Heart	heart
26	chr1:209809200-209811800	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr1:209809200-209812200	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:209809400-209811400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr1:209809400-209814800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:209809600-209811200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:209809600-209811800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:209809800-209811400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr1:209809800-209811800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr1:209809800-209813600	Genic enhancers	HMEC	breast
35	chr1:209810200-209812800	Weak transcription	Left Ventricle	heart
36	chr1:209810200-209814600	Weak transcription	Right Atrium	heart
37	chr1:209810400-209810800	Weak transcription	Psoas Muscle	Psoas
38	chr1:209810600-209812000	Strong transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links