Variant report

Variant	rs10817391
Chromosome Location	chr9:115598079-115598080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:115511814..115513808-chr9:115597471..115599757,2	MCF-7	breast:
2	chr9:115581292..115584107-chr9:115597875..115599534,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226609	Chromatin interaction
ENSG00000148158	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10117017	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10117709	0.96[ASN][1000 genomes]
rs10122712	0.99[ASN][1000 genomes]
rs10513169	0.93[EUR][1000 genomes]
rs10732374	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10733595	0.94[ASN][1000 genomes]
rs10739371	0.91[ASN][1000 genomes]
rs10759587	0.94[ASN][1000 genomes]
rs10759588	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10817392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10817395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10817396	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10981513	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981515	0.91[ASN][1000 genomes]
rs10981516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981523	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981530	0.86[EUR][1000 genomes]
rs10981531	0.86[EUR][1000 genomes]
rs10981532	0.81[EUR][1000 genomes]
rs10981533	0.81[EUR][1000 genomes]
rs11791125	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11793016	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418408	0.94[ASN][1000 genomes]
rs1539345	0.99[ASN][1000 genomes]
rs1573055	0.92[EUR][1000 genomes]
rs1573056	0.93[EUR][1000 genomes]
rs17742501	0.86[EUR][1000 genomes]
rs17742994	0.86[EUR][1000 genomes]
rs17743418	0.93[EUR][1000 genomes]
rs17743824	0.96[EUR][1000 genomes]
rs17821593	0.86[EUR][1000 genomes]
rs2000204	0.89[ASN][1000 genomes]
rs2096186	0.84[ASN][1000 genomes]
rs2096187	0.80[ASN][1000 genomes]
rs2153839	0.91[ASN][1000 genomes]
rs2185767	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2796024	0.89[ASN][1000 genomes]
rs41280189	0.96[EUR][1000 genomes]
rs4276760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4978504	0.90[ASN][1000 genomes]
rs4979158	0.94[ASN][1000 genomes]
rs4979162	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4979163	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4979164	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4979166	0.89[ASN][1000 genomes]
rs57546880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57672123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58247585	0.96[EUR][1000 genomes]
rs59645636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60989307	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61626147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62576385	0.85[EUR][1000 genomes]
rs62576386	0.86[EUR][1000 genomes]
rs62576389	0.86[EUR][1000 genomes]
rs62576390	0.86[EUR][1000 genomes]
rs62576391	0.86[EUR][1000 genomes]
rs62576394	0.86[EUR][1000 genomes]
rs62576395	0.86[EUR][1000 genomes]
rs62576396	0.86[EUR][1000 genomes]
rs62576405	0.86[EUR][1000 genomes]
rs62576406	0.86[EUR][1000 genomes]
rs62576407	0.86[EUR][1000 genomes]
rs62576409	0.86[EUR][1000 genomes]
rs62576410	0.86[EUR][1000 genomes]
rs62576411	0.86[EUR][1000 genomes]
rs62576412	0.88[EUR][1000 genomes]
rs62576413	0.93[EUR][1000 genomes]
rs62576414	0.93[EUR][1000 genomes]
rs62576415	0.93[EUR][1000 genomes]
rs62576438	0.86[EUR][1000 genomes]
rs6477960	0.88[ASN][1000 genomes]
rs6477961	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7030460	0.91[ASN][1000 genomes]
rs7032401	0.89[ASN][1000 genomes]
rs7856199	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7871799	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs787282	0.87[ASN][1000 genomes]
rs787283	0.87[ASN][1000 genomes]
rs787288	0.87[ASN][1000 genomes]
rs7873644	0.94[ASN][1000 genomes]
rs870078	0.87[ASN][1000 genomes]
rs883462	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9299210	0.94[ASN][1000 genomes]
rs999018	0.99[ASN][1000 genomes]

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	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv893733	chr9:115397206-115712068	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv2422302	chr9:115550339-115656433	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115559400-115598400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr9:115565000-115600800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr9:115565600-115600800	Weak transcription	HMEC	breast
4	chr9:115570600-115608400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:115573200-115598400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:115573400-115598800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:115573600-115598400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:115573600-115607800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr9:115574000-115598600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr9:115575000-115600800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr9:115577600-115630400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr9:115579000-115600800	Weak transcription	Fetal Brain Male	brain
13	chr9:115580200-115608400	Weak transcription	Fetal Kidney	kidney
14	chr9:115580600-115601800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:115581200-115598600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr9:115581200-115599200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:115582200-115608600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr9:115582400-115598200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr9:115582400-115598400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr9:115582400-115600600	Weak transcription	HSMM	muscle
21	chr9:115582400-115608600	Weak transcription	NHLF	lung
22	chr9:115582400-115609000	Weak transcription	NHDF-Ad	bronchial
23	chr9:115582400-115630000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr9:115582600-115598600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr9:115583400-115598200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr9:115583400-115598200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:115583600-115598400	Weak transcription	NHEK	skin
28	chr9:115584400-115608800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:115587000-115598200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr9:115587200-115598600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr9:115591200-115606800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr9:115591400-115623200	Weak transcription	Fetal Heart	heart
33	chr9:115592400-115600000	Weak transcription	Dnd41	blood
34	chr9:115592600-115607200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr9:115593200-115598200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:115593200-115611000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr9:115593400-115602600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:115593600-115599600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr9:115593600-115607200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr9:115593800-115599000	Weak transcription	Primary B cells from cord blood	blood
41	chr9:115594000-115598200	Weak transcription	Right Ventricle	heart
42	chr9:115594000-115602800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:115594200-115598400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:115594200-115598400	Weak transcription	Aorta	Aorta
45	chr9:115594200-115598400	Weak transcription	Pancreas	Pancrea
46	chr9:115594200-115598400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr9:115594200-115598600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr9:115594200-115598600	Weak transcription	Left Ventricle	heart
49	chr9:115594200-115598600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr9:115594200-115598800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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