Variant report

Variant	rs13271095
Chromosome Location	chr8:99253092-99253093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr8:99252784-99253098	MCF10A-Er-Src	breast:	n/a	chr8:99252926-99252937

No.	Distal block	Cell Line	Cell type
1	chr2:201753010..201755430-chr8:99251184..99254324,3	MCF-7	breast:
2	chr8:99252007..99254698-chr8:99262600..99264697,2	MCF-7	breast:
3	chr8:99252888..99255324-chr8:99266845..99268571,2	MCF-7	breast:
4	chr8:99247388..99250168-chr8:99250912..99253413,3	MCF-7	breast:
5	chr8:99250956..99253382-chr8:99305181..99308171,3	MCF-7	breast:
6	chr8:99241307..99248169-chr8:99249290..99255267,8	MCF-7	breast:

Variant related genes	Relation type
NIPAL2	TF binding region
ENSG00000104361	Chromatin interaction
ENSG00000196290	Chromatin interaction
ENSG00000240344	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10093623	0.95[JPT][hapmap]
rs10093856	0.91[GIH][hapmap];0.95[JPT][hapmap]
rs10095790	0.91[JPT][hapmap];1.00[YRI][hapmap]
rs10095887	0.91[GIH][hapmap];0.91[JPT][hapmap]
rs10096435	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10100633	0.91[JPT][hapmap]
rs1109159	0.91[JPT][hapmap]
rs11987536	0.82[GIH][hapmap];0.91[JPT][hapmap]
rs12550682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542289	0.89[GIH][hapmap];0.95[JPT][hapmap]
rs1597686	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16896802	0.95[JPT][hapmap]
rs28420898	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877460	0.91[JPT][hapmap]
rs3779721	0.93[GIH][hapmap];0.91[JPT][hapmap]
rs4734389	0.91[JPT][hapmap]
rs4735541	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4735542	0.91[JPT][hapmap]
rs6468620	0.91[GIH][hapmap];0.95[JPT][hapmap]
rs6468624	0.91[JPT][hapmap]
rs6982810	0.91[JPT][hapmap]
rs7009145	0.95[JPT][hapmap]
rs896417	0.93[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831405	chr8:99095239-99260934	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv6326	chr8:99221674-99263687	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99205200-99259600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:99218400-99259000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr8:99226200-99267000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:99229400-99267000	Weak transcription	Left Ventricle	heart
5	chr8:99235400-99268400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:99239400-99268600	Weak transcription	Aorta	Aorta
7	chr8:99240400-99259400	Weak transcription	Fetal Intestine Large	intestine
8	chr8:99240400-99259400	Weak transcription	Pancreas	Pancrea
9	chr8:99240400-99264400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:99240400-99266200	Weak transcription	Fetal Stomach	stomach
11	chr8:99240600-99267000	Weak transcription	Gastric	stomach
12	chr8:99240600-99294200	Weak transcription	Ovary	ovary
13	chr8:99240800-99259200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:99241000-99259200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:99241000-99259200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:99241000-99269400	Weak transcription	Fetal Intestine Small	intestine
17	chr8:99242800-99255200	Weak transcription	HSMM	muscle
18	chr8:99244000-99259400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:99248600-99259600	Weak transcription	Psoas Muscle	Psoas
20	chr8:99249000-99256600	Weak transcription	HSMMtube	muscle
21	chr8:99249000-99267800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:99249200-99259400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:99249400-99259400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr8:99250000-99259200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:99250200-99257400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:99250200-99257400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:99250200-99257800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:99250400-99255200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:99251200-99253200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:99251200-99253200	Enhancers	Fetal Lung	lung
31	chr8:99251400-99253400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:99251600-99253400	Enhancers	HMEC	breast
33	chr8:99251800-99253200	Enhancers	NHDF-Ad	bronchial
34	chr8:99251800-99253200	Enhancers	Osteobl	bone
35	chr8:99251800-99255000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:99252000-99253200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:99252000-99253200	Enhancers	NHEK	skin
38	chr8:99252400-99253200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr8:99252400-99253200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:99252400-99253200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:99252400-99253200	Enhancers	Right Atrium	heart
42	chr8:99252600-99253200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr8:99252600-99253200	Enhancers	Esophagus	oesophagus
44	chr8:99252800-99255200	Weak transcription	NHLF	lung
45	chr8:99253000-99255000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:99253000-99255200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:99253000-99255200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:99253000-99264000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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