Variant report

Variant	rs12547731
Chromosome Location	chr8:67428060-67428061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67426758..67428593-chr8:145751587..145753777,2	MCF-7	breast:
2	chr8:67423189..67428522-chr8:67623234..67628071,7	MCF-7	breast:
3	chr8:67426610..67429347-chr8:67484822..67487223,2	MCF-7	breast:
4	chr8:67421561..67429070-chr8:67518939..67527775,32	MCF-7	breast:
5	chr8:67422601..67431884-chr8:67622296..67628668,31	MCF-7	breast:
6	chr8:67423253..67428167-chr8:67524174..67527584,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104205	Chromatin interaction
ENSG00000185697	Chromatin interaction
ENSG00000254402	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10095700	0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.87[ASN][1000 genomes]
rs11995298	0.81[CHB][hapmap]
rs12541034	0.88[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs12543076	1.00[TSI][hapmap]
rs12545198	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs12545483	0.88[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12547831	0.81[CHB][hapmap]
rs16932940	0.88[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs16932942	0.88[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs16932954	0.81[CHB][hapmap];1.00[GIH][hapmap]
rs2004791	0.83[ASN][1000 genomes]
rs28557066	0.80[ASN][1000 genomes]
rs6995972	0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.87[ASN][1000 genomes]
rs7008801	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs736458	0.88[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs746787	0.88[CHB][hapmap];0.91[JPT][hapmap]
rs746789	0.88[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs7832611	0.81[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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67419800-67430000	Weak transcription	Psoas Muscle	Psoas
2	chr8:67423600-67433600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:67423800-67428400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:67425000-67429400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:67425000-67430000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:67425200-67429000	Weak transcription	Osteobl	bone
7	chr8:67425200-67433800	Weak transcription	Spleen	Spleen
8	chr8:67425400-67429000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:67425400-67429000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:67425400-67429000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:67425400-67429000	Weak transcription	HMEC	breast
12	chr8:67425400-67429400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:67425400-67429600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:67425400-67429600	Weak transcription	HUVEC	blood vessel
15	chr8:67425400-67429600	Weak transcription	NHLF	lung
16	chr8:67425400-67429800	Weak transcription	Aorta	Aorta
17	chr8:67425400-67429800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:67425400-67430000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:67425400-67430000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:67425400-67430400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:67425400-67430800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:67425400-67431000	Weak transcription	Right Atrium	heart
23	chr8:67425400-67431400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:67425400-67433800	Weak transcription	Ovary	ovary
25	chr8:67425600-67428400	Weak transcription	A549	lung
26	chr8:67425600-67429000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:67425600-67430000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:67425600-67430400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:67425600-67433800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr8:67425800-67429000	Weak transcription	Hela-S3	cervix
31	chr8:67425800-67429000	Weak transcription	NHDF-Ad	bronchial
32	chr8:67425800-67429600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:67425800-67430200	Strong transcription	Brain Cingulate Gyrus	brain
34	chr8:67425800-67433800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:67426000-67428600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:67426000-67430000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:67426000-67431800	Weak transcription	Right Ventricle	heart
38	chr8:67426200-67429000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:67426200-67430600	Strong transcription	Brain Anterior Caudate	brain
40	chr8:67426200-67431000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:67426400-67430200	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr8:67426400-67433400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:67426400-67433800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:67426600-67429000	Weak transcription	HSMM	muscle
45	chr8:67426600-67429000	Weak transcription	HSMMtube	muscle
46	chr8:67426600-67431000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:67426600-67433200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:67426600-67433800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:67426800-67430200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:67427200-67428800	Strong transcription	Brain Substantia Nigra	brain

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