Variant report

Variant	rs10122712
Chromosome Location	chr9:115591036-115591037
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	chr9:115513040..115515459-chr9:115588123..115591278,3	MCF-7	breast:
2	chr9:115588210..115591138-chr9:115628992..115630690,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148158	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10117017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10117709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10481638	0.93[CEU][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10481671	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs10732374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10733595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10733596	0.93[CEU][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10733597	0.93[CEU][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10739371	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10739375	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10759587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10759588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10759589	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs10759591	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10759592	0.93[CEU][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10759593	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs10759596	0.93[CEU][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10759597	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10759598	0.93[CEU][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10759599	0.93[CEU][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs10759600	0.93[CEU][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs10759601	0.93[CEU][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10817391	0.99[ASN][1000 genomes]
rs10817392	0.96[ASN][1000 genomes]
rs10817395	0.99[ASN][1000 genomes]
rs10817396	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10817397	0.93[CEU][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10817398	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs10817399	0.93[CEU][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs10817400	0.93[CEU][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes]
rs10817401	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10817402	0.81[CEU][hapmap]
rs10981513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10981515	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10981516	0.99[ASN][1000 genomes]
rs10981519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10981521	0.99[ASN][1000 genomes]
rs10981522	0.84[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10981523	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11791125	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11793016	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1418408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1475292	0.93[CEU][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1539340	0.93[CEU][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1539341	0.80[ASN][1000 genomes]
rs1539342	0.93[CEU][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1539345	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1970527	0.93[CEU][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1970528	0.93[CEU][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2000204	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2051017	0.81[CEU][hapmap]
rs2096186	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2096187	0.81[ASN][1000 genomes]
rs2153839	0.91[CHB][hapmap];0.90[JPT][hapmap];0.80[YRI][hapmap];0.93[ASN][1000 genomes]
rs2185767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2645988	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2676622	0.80[CEU][hapmap]
rs2796024	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2798315	0.81[CEU][hapmap]
rs4276760	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4366151	0.93[CEU][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4367629	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4978504	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4979158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4979162	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4979163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4979164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4979166	0.93[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs4979167	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4979168	0.93[CEU][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57546880	0.99[ASN][1000 genomes]
rs57672123	0.99[ASN][1000 genomes]
rs59645636	0.99[ASN][1000 genomes]
rs60989307	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs61626147	0.94[ASN][1000 genomes]
rs6477960	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6477961	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7030460	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7032401	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7032763	0.81[CEU][hapmap]
rs7856199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7871799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787282	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs787283	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs787288	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7873644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs870078	0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs883462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs912661	0.81[CEU][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs9299210	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9299211	0.93[CEU][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9299212	0.93[CEU][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs999018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv515899	chr9:115359049-115593870	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2757350	chr9:115371397-115594108	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1038306	chr9:115379305-115595695	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv540194	chr9:115379305-115595695	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv430090	chr9:115383445-115594445	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	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
9	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115549800-115593600	Weak transcription	Thymus	Thymus
2	chr9:115552800-115593800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:115555800-115597400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr9:115559400-115598400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr9:115559600-115593800	Weak transcription	Brain Germinal Matrix	brain
6	chr9:115564600-115593600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr9:115565000-115600800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr9:115565600-115600800	Weak transcription	HMEC	breast
9	chr9:115566800-115598000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr9:115569600-115593800	Weak transcription	Fetal Brain Female	brain
11	chr9:115570600-115608400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr9:115570800-115593600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr9:115573000-115593800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr9:115573200-115593200	Weak transcription	Left Ventricle	heart
15	chr9:115573200-115593200	Weak transcription	Spleen	Spleen
16	chr9:115573200-115593800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:115573200-115598400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr9:115573400-115595600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr9:115573400-115598800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:115573600-115598400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:115573600-115607800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr9:115574000-115593800	Weak transcription	HepG2	liver
23	chr9:115574000-115598600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr9:115575000-115600800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr9:115577600-115630400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr9:115577800-115594000	Weak transcription	NH-A	brain
27	chr9:115578800-115596200	Weak transcription	Gastric	stomach
28	chr9:115579000-115600800	Weak transcription	Fetal Brain Male	brain
29	chr9:115580200-115593400	Weak transcription	Liver	Liver
30	chr9:115580200-115608400	Weak transcription	Fetal Kidney	kidney
31	chr9:115580600-115601800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:115580800-115593600	Weak transcription	Ovary	ovary
33	chr9:115580800-115596400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:115581200-115593600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr9:115581200-115598600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr9:115581200-115599200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr9:115581600-115593000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr9:115581600-115593400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr9:115582200-115593400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr9:115582200-115608600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr9:115582400-115593200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:115582400-115593200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr9:115582400-115593200	Weak transcription	Fetal Intestine Small	intestine
44	chr9:115582400-115593200	Weak transcription	Fetal Muscle Leg	muscle
45	chr9:115582400-115593200	Weak transcription	Lung	lung
46	chr9:115582400-115593400	Weak transcription	Fetal Stomach	stomach
47	chr9:115582400-115593600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:115582400-115593800	Weak transcription	Adipose Nuclei	Adipose
49	chr9:115582400-115593800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr9:115582400-115593800	Weak transcription	Fetal Muscle Trunk	muscle

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