Variant report

Variant	rs7556745
Chromosome Location	chr2:20292572-20292573
allele	A/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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20209743..20212701-chr2:20291274..20294214,2	MCF-7	breast:
2	chr2:20292117..20294039-chr2:20297489..20300259,2	MCF-7	breast:
3	chr2:20210274..20217508-chr2:20292118..20299922,13	MCF-7	breast:
4	chr2:20292423..20293956-chr2:20423516..20425711,2	MCF-7	breast:
5	chr2:20269147..20275842-chr2:20291951..20298996,12	MCF-7	breast:
6	chr2:20156943..20158580-chr2:20291492..20293656,2	MCF-7	breast:
7	chr2:20248110..20258329-chr2:20290320..20297278,22	MCF-7	breast:
8	chr2:20285871..20288708-chr2:20290874..20293778,2	MCF-7	breast:
9	chr2:20155338..20156116-chr2:20292148..20293126,2	K562	blood:
10	chr2:20276734..20283198-chr2:20287354..20293786,7	MCF-7	breast:
11	chr2:20263940..20267235-chr2:20290862..20294236,4	MCF-7	breast:
12	chr2:20271820..20275999-chr2:20291191..20294413,6	MCF-7	breast:
13	chr2:20247984..20253637-chr2:20287496..20297716,23	MCF-7	breast:
14	chr2:20286111..20289844-chr2:20290692..20292976,3	MCF-7	breast:
15	chr2:20277155..20282170-chr2:20290246..20293600,5	MCF-7	breast:
16	chr2:20290689..20292864-chr2:20300791..20304475,3	K562	blood:
17	chr2:20287240..20289975-chr2:20292126..20294060,2	K562	blood:
18	chr2:20230147..20231842-chr2:20291847..20293930,2	MCF-7	breast:

No data

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

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10169811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171384	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10195803	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10199614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207632	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10208355	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs1028054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1028055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11096639	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs11673841	0.84[EUR][1000 genomes]
rs11677683	0.83[EUR][1000 genomes]
rs11677734	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs11679737	0.87[CEU][hapmap]
rs11682837	0.84[EUR][1000 genomes]
rs11685788	1.00[CEU][hapmap]
rs11689490	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs11690530	0.82[CEU][hapmap]
rs11692546	0.82[CEU][hapmap]
rs11900576	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs12998930	0.87[EUR][1000 genomes]
rs13005386	0.87[CEU][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs13391566	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs34694787	0.85[EUR][1000 genomes]
rs55971461	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62112180	0.84[EUR][1000 genomes]
rs6531203	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs6531204	0.88[CEU][hapmap];0.85[CHB][hapmap];0.85[EUR][1000 genomes]
rs6531205	0.88[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs6531206	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531207	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]
rs6708655	0.88[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes]
rs6709349	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs6719494	0.90[EUR][1000 genomes]
rs6749952	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561381	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs7572608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582437	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs7583420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878983	0.81[CEU][hapmap]
rs907864	0.94[CEU][hapmap];0.85[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7556745	AC098828.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20288800-20293200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:20288800-20293200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:20289200-20293200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:20289800-20293400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:20290000-20293000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:20290000-20294400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:20290400-20294000	Enhancers	Placenta	Placenta
8	chr2:20290400-20295400	Enhancers	HMEC	breast
9	chr2:20290600-20293600	Enhancers	Adipose Nuclei	Adipose
10	chr2:20290600-20294000	Enhancers	Fetal Heart	heart
11	chr2:20290600-20294400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:20290800-20294200	Enhancers	Esophagus	oesophagus
13	chr2:20290800-20294200	Enhancers	Fetal Stomach	stomach
14	chr2:20290800-20294400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:20290800-20294400	Enhancers	NH-A	brain
16	chr2:20290800-20295200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:20291000-20293400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:20291000-20300000	Weak transcription	Right Atrium	heart
19	chr2:20291200-20293200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:20291200-20294400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:20291400-20293000	Enhancers	Stomach Smooth Muscle	stomach
22	chr2:20291400-20293000	Enhancers	HepG2	liver
23	chr2:20291400-20294400	Enhancers	Psoas Muscle	Psoas
24	chr2:20291600-20292600	Enhancers	K562	blood
25	chr2:20291600-20293000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:20291600-20294600	Enhancers	NHLF	lung
27	chr2:20291600-20295200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:20291600-20295800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:20291600-20297800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:20291800-20292600	Enhancers	A549	lung
31	chr2:20291800-20292800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:20291800-20293000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:20291800-20293200	Weak transcription	Ovary	ovary
34	chr2:20291800-20293200	Weak transcription	Hela-S3	cervix
35	chr2:20291800-20293400	Enhancers	Fetal Thymus	thymus
36	chr2:20291800-20293800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:20291800-20294000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:20291800-20294200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr2:20291800-20294400	Enhancers	Fetal Intestine Small	intestine
40	chr2:20291800-20294400	Weak transcription	Fetal Kidney	kidney
41	chr2:20291800-20295200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:20291800-20295200	Enhancers	NHEK	skin
43	chr2:20292000-20293000	Weak transcription	Fetal Intestine Large	intestine
44	chr2:20292000-20294200	Enhancers	HSMM	muscle
45	chr2:20292000-20294200	Enhancers	NHDF-Ad	bronchial
46	chr2:20292000-20294400	Enhancers	Fetal Muscle Trunk	muscle
47	chr2:20292000-20294800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:20292000-20295400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:20292000-20300400	Weak transcription	HUVEC	blood vessel
50	chr2:20292200-20293000	Weak transcription	Left Ventricle	heart

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