Variant report

Variant	rs12541034
Chromosome Location	chr8:67423997-67423998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67423189..67428522-chr8:67623234..67628071,7	MCF-7	breast:
2	chr8:67422088..67426308-chr8:67518696..67523583,8	MCF-7	breast:
3	chr8:67421561..67429070-chr8:67518939..67527775,32	MCF-7	breast:
4	chr8:67422601..67431884-chr8:67622296..67628668,31	MCF-7	breast:
5	chr8:67423253..67428167-chr8:67524174..67527584,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104205	Chromatin interaction
ENSG00000185697	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10092120	0.85[ASN][1000 genomes]
rs10095700	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[ASN][1000 genomes]
rs12265	0.82[CHB][hapmap]
rs12545198	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12545483	1.00[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs12547055	0.80[CHB][hapmap]
rs12547731	0.88[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs16932908	0.88[CHB][hapmap]
rs16932940	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932942	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004791	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28557066	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3824263	0.82[CHB][hapmap]
rs6651308	0.82[CHB][hapmap]
rs6995972	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs736458	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs746787	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs746789	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643398	0.82[CHB][hapmap]
rs9643582	0.82[CHB][hapmap]

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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv516599	chr8:67423997-67432106	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67414800-67424400	Weak transcription	Hela-S3	cervix
2	chr8:67416000-67424400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:67419800-67424600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:67419800-67430000	Weak transcription	Psoas Muscle	Psoas
5	chr8:67420000-67424400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:67420000-67424400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:67420000-67424400	Weak transcription	Fetal Kidney	kidney
8	chr8:67420000-67427600	Weak transcription	Liver	Liver
9	chr8:67420400-67424400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:67420400-67424400	Weak transcription	HUVEC	blood vessel
11	chr8:67420400-67424600	Weak transcription	Fetal Lung	lung
12	chr8:67420600-67424200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:67420600-67424400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:67420600-67424400	Weak transcription	Ovary	ovary
15	chr8:67420600-67424400	Weak transcription	NH-A	brain
16	chr8:67420600-67424400	Weak transcription	Osteobl	bone
17	chr8:67420600-67424600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:67420600-67424600	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:67420600-67424600	Weak transcription	Right Atrium	heart
20	chr8:67420600-67425400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:67420600-67425600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:67420800-67424400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:67420800-67424400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:67420800-67424400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:67420800-67424400	Weak transcription	Left Ventricle	heart
26	chr8:67420800-67424400	Weak transcription	Pancreas	Pancrea
27	chr8:67420800-67424400	Weak transcription	Right Ventricle	heart
28	chr8:67420800-67424400	Weak transcription	Spleen	Spleen
29	chr8:67420800-67424400	Weak transcription	NHEK	skin
30	chr8:67420800-67424400	Weak transcription	NHLF	lung
31	chr8:67420800-67424600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:67421000-67424200	Weak transcription	HSMMtube	muscle
33	chr8:67421000-67424400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:67421000-67424400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:67421000-67424400	Weak transcription	A549	lung
36	chr8:67421000-67424400	Weak transcription	NHDF-Ad	bronchial
37	chr8:67421000-67424600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:67421000-67426000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:67421200-67424600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:67421400-67424400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr8:67421600-67424800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr8:67422200-67424400	Weak transcription	GM12878-XiMat	blood
43	chr8:67422600-67424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:67422800-67424400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:67422800-67425000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:67423000-67424000	Genic enhancers	Brain Angular Gyrus	brain
47	chr8:67423000-67424200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:67423000-67424200	Weak transcription	HMEC	breast
49	chr8:67423000-67424600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:67423200-67424400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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