Variant report

Variant	rs6669593
Chromosome Location	chr1:85000267-85000268
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84993653..84995559-chr1:84998867..85001554,3	K562	blood:
2	chr1:84999252..85001444-chr1:85004110..85006377,3	K562	blood:
3	chr1:84999252..85002041-chr1:85004361..85006416,3	K562	blood:
4	chr1:84999607..85002399-chr1:85083617..85085507,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10493754	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10874449	1.00[ASN][1000 genomes]
rs11163982	0.85[ASN][1000 genomes]
rs11163985	0.85[ASN][1000 genomes]
rs11163986	1.00[ASN][1000 genomes]
rs11163987	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11163993	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11164001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12075532	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12354394	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13093	0.85[ASN][1000 genomes]
rs17110164	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17110485	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17110590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17110949	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891126	1.00[CHB][hapmap]
rs3768247	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56876287	0.85[ASN][1000 genomes]
rs6576712	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]
rs6576714	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6658034	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6658974	0.85[ASN][1000 genomes]
rs6660306	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs6662644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6662683	0.85[ASN][1000 genomes]
rs6666052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs6666572	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6668752	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6676502	0.81[ASN][1000 genomes]
rs6684882	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6688208	1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6696326	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6698596	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6701280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6704452	0.85[ASN][1000 genomes]
rs7524576	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7532298	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7539413	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7541850	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7541909	0.85[ASN][1000 genomes]
rs7547208	0.85[ASN][1000 genomes]
rs7551329	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7554311	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7555773	0.85[ASN][1000 genomes]
rs7555821	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr1:84973000-85003200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:84973200-85003200	Weak transcription	Adipose Nuclei	Adipose
3	chr1:84973400-85002000	Weak transcription	Primary T cells from cord blood	blood
4	chr1:84975200-85019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:84975800-85030200	Weak transcription	Fetal Intestine Small	intestine
6	chr1:84981600-85012200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:84982400-85026800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:84987000-85003200	Weak transcription	Left Ventricle	heart
9	chr1:84988200-85020600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:84991000-85034200	Weak transcription	Esophagus	oesophagus
11	chr1:84991000-85038200	Weak transcription	Thymus	Thymus
12	chr1:84991800-85026800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:84992000-85003200	Weak transcription	GM12878-XiMat	blood
14	chr1:84992000-85003400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:84992200-85003000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:84992200-85026000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:84992400-85019400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:84992400-85038800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:84992600-85005600	Weak transcription	Osteobl	bone
20	chr1:84992600-85021200	Weak transcription	NHDF-Ad	bronchial
21	chr1:84993200-85025000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:84993400-85025800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:84993400-85027000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:84993600-85026800	Weak transcription	HSMM	muscle
25	chr1:84994000-85026600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:84994600-85001800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:84994600-85003000	Weak transcription	Primary B cells from cord blood	blood
28	chr1:84994600-85003400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:84994600-85003400	Weak transcription	Liver	Liver
30	chr1:84994600-85008000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:84994800-85008600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:84995000-85028600	Weak transcription	Fetal Intestine Large	intestine
33	chr1:84995400-85020600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:84998400-85003000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:84998600-85003200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr1:84998600-85038800	Weak transcription	Right Ventricle	heart
37	chr1:84999800-85000400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr1:84999800-85008800	Weak transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links