Variant report

Variant	rs6531207
Chromosome Location	chr2:20297762-20297763
allele	C/T
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20214958..20215898-chr2:20297637..20298521,4	K562	blood:
2	chr2:20072609..20074273-chr2:20296535..20298173,2	K562	blood:
3	chr2:20100345..20103243-chr2:20296732..20299128,2	MCF-7	breast:
4	chr2:20154421..20157278-chr2:20295987..20298973,3	MCF-7	breast:
5	chr2:20251166..20253284-chr2:20295543..20298394,2	K562	blood:
6	chr2:20157779..20158423-chr2:20297722..20298509,2	MCF-7	breast:
7	chr2:20154448..20157008-chr2:20296736..20298879,2	MCF-7	breast:
8	chr2:20296833..20299152-chr2:20423659..20425384,3	MCF-7	breast:
9	chr2:20210274..20217508-chr2:20292118..20299922,13	MCF-7	breast:
10	chr2:20250411..20253613-chr2:20297643..20299802,4	MCF-7	breast:
11	chr2:20269147..20275842-chr2:20291951..20298996,12	MCF-7	breast:
12	chr2:20155317..20156277-chr2:20297540..20298567,10	MCF-7	breast:
13	chr2:20154616..20156310-chr2:20297424..20298664,25	K562	blood:
14	chr2:20210810..20211522-chr2:20297641..20298165,2	MCF-7	breast:
15	chr2:20157736..20158369-chr2:20297628..20298583,2	K562	blood:
16	chr2:20280896..20282415-chr2:20296609..20299521,2	K562	blood:
17	chr2:20215025..20216011-chr2:20297649..20298217,2	MCF-7	breast:
18	chr2:20292117..20294039-chr2:20297489..20300259,2	MCF-7	breast:
19	chr2:20213367..20215755-chr2:20296083..20298973,4	MCF-7	breast:
20	chr2:20297655..20298611-chr2:20490488..20491367,2	MCF-7	breast:
21	chr2:20155231..20156341-chr2:20297460..20298639,28	MCF-7	breast:
22	chr2:20295420..20298254-chr2:20423828..20425433,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223734	Chromatin interaction
ENSG00000068697	Chromatin interaction
ENSG00000183891	Chromatin interaction
ENSG00000115884	Chromatin interaction
ENSG00000271991	Chromatin interaction
ENSG00000132031	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10169811	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10171384	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10195803	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10199614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10207632	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10208355	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs1028054	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1028055	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11096639	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs11673841	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11677683	0.82[EUR][1000 genomes]
rs11677734	0.91[CEU][hapmap]
rs11679737	0.86[CEU][hapmap]
rs11682837	0.82[EUR][1000 genomes]
rs11685443	0.82[CEU][hapmap]
rs11685788	1.00[CEU][hapmap]
rs11689490	0.95[CEU][hapmap];0.80[CHB][hapmap];0.82[EUR][1000 genomes]
rs11690530	0.87[CEU][hapmap]
rs11692546	0.87[CEU][hapmap]
rs11900576	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs12998930	0.85[EUR][1000 genomes]
rs13005386	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs13391566	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs34694787	0.85[EUR][1000 genomes]
rs55971461	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62112180	0.82[EUR][1000 genomes]
rs6531203	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs6531204	0.91[CEU][hapmap];0.85[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6531205	0.91[CEU][hapmap];0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6531206	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6708655	0.91[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6709349	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs6719494	0.88[EUR][1000 genomes]
rs6749952	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7556745	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7558628	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7561381	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs7572608	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7582437	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs7583420	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7609013	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs878983	0.85[CEU][hapmap]
rs907864	0.95[CEU][hapmap];0.84[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6531207	AC098828.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20291000-20300000	Weak transcription	Right Atrium	heart
2	chr2:20291600-20297800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:20292000-20300400	Weak transcription	HUVEC	blood vessel
4	chr2:20293600-20304200	Weak transcription	Stomach Mucosa	stomach
5	chr2:20294000-20297800	Weak transcription	Placenta	Placenta
6	chr2:20294000-20304400	Weak transcription	Pancreas	Pancrea
7	chr2:20294200-20297800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:20294400-20297800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:20294400-20297800	Weak transcription	NH-A	brain
10	chr2:20294400-20300200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:20295200-20297800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:20295200-20297800	Weak transcription	NHEK	skin
13	chr2:20295600-20297800	Weak transcription	Liver	Liver
14	chr2:20297400-20297800	Enhancers	A549	lung
15	chr2:20297400-20297800	Enhancers	HepG2	liver
16	chr2:20297400-20298000	Enhancers	HSMMtube	muscle
17	chr2:20297400-20298400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:20297600-20297800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:20297600-20297800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:20297600-20297800	Active TSS	Brain Anterior Caudate	brain
21	chr2:20297600-20297800	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:20297600-20297800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr2:20297600-20297800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:20297600-20297800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr2:20297600-20297800	Active TSS	Hela-S3	cervix
26	chr2:20297600-20297800	Enhancers	NHLF	lung
27	chr2:20297600-20298000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:20297600-20298000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:20297600-20298000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:20297600-20298000	Enhancers	Ovary	ovary
31	chr2:20297600-20298000	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr2:20297600-20298000	Enhancers	HSMM	muscle
33	chr2:20297600-20298200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:20297600-20298200	Enhancers	Brain Angular Gyrus	brain
35	chr2:20297600-20298200	Enhancers	Fetal Muscle Trunk	muscle
36	chr2:20297600-20298400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:20297600-20298400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:20297600-20298400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:20297600-20298400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr2:20297600-20298400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:20297600-20298400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:20297600-20298400	Enhancers	Fetal Muscle Leg	muscle
43	chr2:20297600-20298400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:20297600-20298400	Enhancers	HMEC	breast
45	chr2:20297600-20298400	Enhancers	NHDF-Ad	bronchial

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