Variant report

Variant	rs10095182
Chromosome Location	chr8:67346451-67346452
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67345421..67347646-chr8:67424128..67426947,2	MCF-7	breast:
2	chr8:67344117..67347389-chr8:67347651..67352093,4	MCF-7	breast:
3	chr8:67344979..67348651-chr8:67356606..67358747,3	K562	blood:

Variant related genes	Relation type
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10092151	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095818	1.00[ASN][1000 genomes]
rs10099908	1.00[ASN][1000 genomes]
rs10100008	1.00[ASN][1000 genomes]
rs10108841	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112574	0.93[CEU][hapmap]
rs10113313	1.00[ASN][1000 genomes]
rs1030420	0.93[CEU][hapmap];0.84[TSI][hapmap]
rs10957373	0.82[EUR][1000 genomes]
rs11782087	1.00[ASN][1000 genomes]
rs11784186	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984980	1.00[ASN][1000 genomes]
rs13282925	0.81[EUR][1000 genomes]
rs1426905	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473817	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932829	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17320665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17322654	1.00[ASN][1000 genomes]
rs1863639	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28377354	1.00[ASN][1000 genomes]
rs28497070	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28505853	1.00[ASN][1000 genomes]
rs28532882	0.83[EUR][1000 genomes]
rs28609784	1.00[ASN][1000 genomes]
rs28664134	1.00[ASN][1000 genomes]
rs4291250	1.00[ASN][1000 genomes]
rs4448262	1.00[ASN][1000 genomes]
rs60798600	1.00[ASN][1000 genomes]
rs6472275	0.82[EUR][1000 genomes]
rs7006908	1.00[ASN][1000 genomes]
rs7014980	0.93[CEU][hapmap]
rs73691530	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657084	1.00[ASN][1000 genomes]

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	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10095182	C8orf46	cis	Adipose Subcutaneous	GTEx
rs10095182	ADHFE1	cis	parietal	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67345000-67346800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr8:67345000-67347200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr8:67345200-67351000	Weak transcription	Hela-S3	cervix
4	chr8:67345400-67347800	Enhancers	Fetal Intestine Small	intestine
5	chr8:67345400-67347800	Weak transcription	NH-A	brain
6	chr8:67345400-67348800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:67345400-67348800	Weak transcription	Primary B cells from cord blood	blood
8	chr8:67345400-67348800	Enhancers	Fetal Intestine Large	intestine
9	chr8:67345400-67349400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:67345400-67349400	Weak transcription	Fetal Stomach	stomach
11	chr8:67345400-67349800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:67345400-67350600	Weak transcription	Fetal Brain Female	brain
13	chr8:67345400-67350800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr8:67345400-67350800	Weak transcription	Stomach Mucosa	stomach
15	chr8:67345600-67346600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:67345600-67346600	Weak transcription	Gastric	stomach
17	chr8:67345600-67346600	Weak transcription	Lung	lung
18	chr8:67345600-67346800	Enhancers	Brain Angular Gyrus	brain
19	chr8:67345600-67346800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:67345600-67346800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:67345600-67347200	Enhancers	Psoas Muscle	Psoas
22	chr8:67345600-67347400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:67345600-67347400	Enhancers	Stomach Smooth Muscle	stomach
24	chr8:67345600-67347800	Enhancers	Pancreas	Pancrea
25	chr8:67345600-67348600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:67345600-67348600	Weak transcription	Placenta	Placenta
27	chr8:67345600-67348600	Weak transcription	Left Ventricle	heart
28	chr8:67345600-67349000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:67345600-67349000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:67345600-67349000	Weak transcription	Spleen	Spleen
31	chr8:67345600-67349200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:67345600-67349200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:67345600-67349200	Weak transcription	Brain Germinal Matrix	brain
34	chr8:67345600-67349800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr8:67345600-67350200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:67345600-67350400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:67345600-67350400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:67345600-67350400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:67345600-67350400	Weak transcription	Fetal Lung	lung
40	chr8:67345600-67350600	Weak transcription	HUVEC	blood vessel
41	chr8:67345600-67350800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:67345600-67350800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:67345600-67351000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:67345600-67351000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:67345600-67351000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr8:67345600-67351000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:67345600-67351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:67345600-67351400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:67345600-67351400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:67345600-67351400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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