Variant report

Variant	rs6531203
Chromosome Location	chr2:20294220-20294221
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20210274..20217508-chr2:20292118..20299922,13	MCF-7	breast:
2	chr2:20269147..20275842-chr2:20291951..20298996,12	MCF-7	breast:
3	chr2:20248110..20258329-chr2:20290320..20297278,22	MCF-7	breast:
4	chr2:20289699..20292359-chr2:20294103..20297412,3	MCF-7	breast:
5	chr2:20214925..20217152-chr2:20292879..20295056,3	MCF-7	breast:
6	chr2:20208609..20210141-chr2:20292705..20294742,2	MCF-7	breast:
7	chr2:20263163..20266090-chr2:20292667..20294337,2	MCF-7	breast:
8	chr2:20285176..20288161-chr2:20293130..20295136,2	MCF-7	breast:
9	chr2:20263940..20267235-chr2:20290862..20294236,4	MCF-7	breast:
10	chr2:20271820..20275999-chr2:20291191..20294413,6	MCF-7	breast:
11	chr2:20155268..20156199-chr2:20293130..20294463,4	K562	blood:
12	chr2:20239345..20241750-chr2:20293079..20295990,2	K562	blood:
13	chr2:20247984..20253637-chr2:20287496..20297716,23	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223734	Chromatin interaction
ENSG00000068697	Chromatin interaction
ENSG00000132031	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10169811	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs10171384	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs10195803	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs10199614	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs10207632	0.93[EUR][1000 genomes]
rs10208355	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1028054	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs1028055	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs11096639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11677734	0.87[CEU][hapmap]
rs11679737	0.81[CEU][hapmap]
rs11685788	0.95[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs11689490	0.91[CEU][hapmap]
rs11690530	0.83[CEU][hapmap]
rs11692546	0.83[CEU][hapmap]
rs11900576	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12998930	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13005386	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs13022175	0.84[YRI][hapmap]
rs13391566	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34694787	0.80[EUR][1000 genomes]
rs55971461	0.93[EUR][1000 genomes]
rs6531204	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs6531205	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs6531206	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs6531207	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs66598678	0.82[EUR][1000 genomes]
rs6708655	0.87[CEU][hapmap]
rs6709349	0.91[CEU][hapmap]
rs6719494	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6749952	0.91[EUR][1000 genomes]
rs7556745	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs7558628	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs7561381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7572608	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs7582437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7583420	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs7609013	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs878983	0.85[CEU][hapmap]
rs907864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6531203	AC098828.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20290000-20294400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:20290400-20295400	Enhancers	HMEC	breast
3	chr2:20290600-20294400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:20290800-20294400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:20290800-20294400	Enhancers	NH-A	brain
6	chr2:20290800-20295200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:20291000-20300000	Weak transcription	Right Atrium	heart
8	chr2:20291200-20294400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:20291400-20294400	Enhancers	Psoas Muscle	Psoas
10	chr2:20291600-20294600	Enhancers	NHLF	lung
11	chr2:20291600-20295200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:20291600-20295800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:20291600-20297800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:20291800-20294400	Enhancers	Fetal Intestine Small	intestine
15	chr2:20291800-20294400	Weak transcription	Fetal Kidney	kidney
16	chr2:20291800-20295200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:20291800-20295200	Enhancers	NHEK	skin
18	chr2:20292000-20294400	Enhancers	Fetal Muscle Trunk	muscle
19	chr2:20292000-20294800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:20292000-20295400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:20292000-20300400	Weak transcription	HUVEC	blood vessel
22	chr2:20292200-20294600	Enhancers	Fetal Muscle Leg	muscle
23	chr2:20292200-20295400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:20293000-20294400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:20293000-20294400	Flanking Active TSS	HepG2	liver
26	chr2:20293000-20295600	Enhancers	Liver	Liver
27	chr2:20293200-20294400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr2:20293200-20294400	Enhancers	HSMMtube	muscle
29	chr2:20293200-20294400	Enhancers	Osteobl	bone
30	chr2:20293400-20294400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr2:20293600-20295200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:20293600-20304200	Weak transcription	Stomach Mucosa	stomach
33	chr2:20293800-20294400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:20293800-20294400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:20293800-20294600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:20294000-20297600	Weak transcription	Ovary	ovary
37	chr2:20294000-20297800	Weak transcription	Placenta	Placenta
38	chr2:20294000-20304400	Weak transcription	Pancreas	Pancrea
39	chr2:20294200-20294400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:20294200-20294400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:20294200-20294800	Weak transcription	A549	lung
42	chr2:20294200-20297600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:20294200-20297600	Weak transcription	Esophagus	oesophagus
44	chr2:20294200-20297600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:20294200-20297600	Weak transcription	Hela-S3	cervix
46	chr2:20294200-20297600	Weak transcription	HSMM	muscle
47	chr2:20294200-20297600	Weak transcription	NHDF-Ad	bronchial
48	chr2:20294200-20297800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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