Variant report

Variant	rs12337310
Chromosome Location	chr9:15484685-15484686
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:15484045..15486584-chr9:15552242..15553964,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164989	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10116904	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10117375	0.85[AMR][1000 genomes]
rs10117524	1.00[ASN][1000 genomes]
rs10117803	0.92[AMR][1000 genomes]
rs10117823	0.92[AMR][1000 genomes]
rs10118595	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10118675	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10118719	0.81[EUR][1000 genomes]
rs10119257	1.00[ASN][1000 genomes]
rs10119931	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10120171	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10121012	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10121911	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10121971	1.00[ASN][1000 genomes]
rs10123084	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10123651	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10124718	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10124746	1.00[ASN][1000 genomes]
rs10125713	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1041529	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10962054	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10962061	1.00[ASN][1000 genomes]
rs12336383	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12336445	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12344963	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12348561	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12348564	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12348780	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12350062	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12350903	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12352398	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12353048	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12859	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs175762	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1882939	0.97[EUR][1000 genomes]
rs202321	1.00[ASN][1000 genomes]
rs2064030	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2202865	1.00[ASN][1000 genomes]
rs2221706	0.84[AMR][1000 genomes]
rs2490852	0.85[AMR][1000 genomes]
rs2665503	0.88[EUR][1000 genomes]
rs2665510	0.97[EUR][1000 genomes]
rs2665511	0.97[EUR][1000 genomes]
rs2665512	0.97[EUR][1000 genomes]
rs2665515	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2737840	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs276434	1.00[ASN][1000 genomes]
rs276437	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs276438	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs276439	1.00[ASN][1000 genomes]
rs276440	1.00[ASN][1000 genomes]
rs276442	1.00[ASN][1000 genomes]
rs276445	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs276446	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs276450	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs276451	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2777951	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2795123	0.97[EUR][1000 genomes]
rs2795124	0.97[EUR][1000 genomes]
rs2795125	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2795127	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2795128	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2798701	0.85[AMR][1000 genomes]
rs2798717	0.92[AMR][1000 genomes]
rs2821525	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2821529	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2821530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2821533	0.97[EUR][1000 genomes]
rs2821542	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2821543	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2821544	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28449490	1.00[ASN][1000 genomes]
rs28497163	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28610358	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28659858	0.84[AMR][1000 genomes]
rs28796681	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28800775	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28805077	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28808908	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28844368	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28882210	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28893033	1.00[ASN][1000 genomes]
rs3119700	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3122701	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3122705	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3129711	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs365710	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381205	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs392627	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs398117	1.00[ASN][1000 genomes]
rs398178	1.00[ASN][1000 genomes]
rs399808	1.00[ASN][1000 genomes]
rs401393	1.00[ASN][1000 genomes]
rs413356	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs415157	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs418153	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4237140	0.84[AMR][1000 genomes]
rs424131	1.00[ASN][1000 genomes]
rs443563	0.82[EUR][1000 genomes]
rs592452	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7021840	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741930	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7852936	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7860339	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs796391	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs811282	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs909323	0.97[EUR][1000 genomes]
rs926154	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9298729	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9406518	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517975	chr9:15286446-15534070	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats 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	23 gene(s)	inside rSNPs	diseases
2	nsv892625	chr9:15326251-16064850	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv892626	chr9:15389610-15694690	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv892627	chr9:15397969-15909450	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv892628	chr9:15420805-15528290	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15433400-15492400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:15439000-15492200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr9:15442800-15508400	Strong transcription	Fetal Thymus	thymus
4	chr9:15443200-15490400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:15443200-15492400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:15443800-15492200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:15444000-15487600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:15444000-15492400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:15444400-15495200	Weak transcription	Fetal Heart	heart
10	chr9:15444600-15491200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr9:15447000-15509800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:15449000-15492200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:15449800-15509000	Weak transcription	Small Intestine	intestine
14	chr9:15452200-15492400	Weak transcription	Right Ventricle	heart
15	chr9:15454600-15508600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:15457000-15492400	Weak transcription	Lung	lung
17	chr9:15459000-15492200	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr9:15460800-15510000	Weak transcription	Esophagus	oesophagus
19	chr9:15461000-15492200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr9:15461600-15492400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:15461600-15492800	Weak transcription	Pancreas	Pancrea
22	chr9:15462800-15505200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:15466200-15492400	Weak transcription	Gastric	stomach
24	chr9:15466600-15492400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:15467200-15501000	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:15467400-15505600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr9:15468800-15492400	Weak transcription	Colonic Mucosa	Colon
28	chr9:15468800-15492400	Weak transcription	Spleen	Spleen
29	chr9:15469200-15491800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr9:15469200-15505600	Weak transcription	NHLF	lung
31	chr9:15469800-15486400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:15470400-15485200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr9:15471000-15492600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr9:15472200-15509000	Weak transcription	HMEC	breast
35	chr9:15473000-15486000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:15473800-15486000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr9:15473800-15492200	Weak transcription	Liver	Liver
38	chr9:15475000-15485200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr9:15476400-15485200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr9:15476400-15504000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr9:15476600-15484800	Weak transcription	Osteobl	bone
42	chr9:15476600-15492200	Weak transcription	Left Ventricle	heart
43	chr9:15476600-15508800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr9:15476600-15510000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr9:15477000-15485400	Weak transcription	K562	blood
46	chr9:15477000-15486200	Weak transcription	NH-A	brain
47	chr9:15477000-15492400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr9:15477000-15492400	Weak transcription	Ovary	ovary
49	chr9:15477000-15504800	Weak transcription	HSMM	muscle
50	chr9:15477000-15509600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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