Variant report

Variant	rs10993058
Chromosome Location	chr9:96873151-96873152
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96871682..96874612-chr9:96882240..96883990,2	MCF-7	breast:
2	chr9:96857107..96860210-chr9:96870662..96873792,3	MCF-7	breast:
3	chr9:96871070..96874023-chr9:96892477..96895183,2	MCF-7	breast:
4	chr9:96872510..96875198-chr9:96927204..96929620,4	K562	blood:

Variant related genes	Relation type
ENSG00000269946	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10122334	0.91[CEU][hapmap];0.95[GIH][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs10429556	0.84[CEU][hapmap];0.91[GIH][hapmap]
rs10739969	0.96[CEU][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs10761309	0.84[CEU][hapmap]
rs10761315	0.96[CEU][hapmap];0.95[GIH][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs10821285	0.88[CEU][hapmap]
rs12684427	0.81[CEU][hapmap]
rs1316814	0.81[CEU][hapmap]
rs1320547	0.81[CEU][hapmap]
rs1331217	0.81[CEU][hapmap]
rs1331218	0.81[CEU][hapmap]
rs1331219	0.84[CEU][hapmap]
rs1411860	0.81[CEU][hapmap]
rs1418251	0.92[CEU][hapmap];0.91[GIH][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs2094927	0.84[CEU][hapmap]
rs2150625	0.84[CEU][hapmap];0.91[GIH][hapmap]
rs3763639	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3847307	0.96[CEU][hapmap];0.95[GIH][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs4282631	0.84[CEU][hapmap]
rs4744308	0.84[CEU][hapmap]
rs4744314	0.83[EUR][1000 genomes]
rs4744316	0.96[CEU][hapmap];0.95[GIH][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs6479527	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6479528	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6479529	0.90[EUR][1000 genomes]
rs7033898	0.88[CEU][hapmap];0.91[GIH][hapmap]
rs7045643	0.84[CEU][hapmap];0.91[GIH][hapmap]
rs7858069	0.88[CEU][hapmap];0.91[GIH][hapmap]
rs7867925	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs914295	0.84[CEU][hapmap];0.91[GIH][hapmap]
rs914297	0.84[CEU][hapmap]
rs9299414	0.83[CEU][hapmap]

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	nsv893589	chr9:96624645-96884544	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription 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	18 gene(s)	inside rSNPs	diseases
2	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
3	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases
4	nsv893591	chr9:96849137-96883271	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	esv2761543	chr9:96857735-96875582	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96845600-96885400	Weak transcription	Gastric	stomach
2	chr9:96849400-96883800	Weak transcription	Brain Germinal Matrix	brain
3	chr9:96857200-96882800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:96859200-96880800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr9:96860200-96876200	Weak transcription	Esophagus	oesophagus
6	chr9:96860400-96873400	Weak transcription	NHLF	lung
7	chr9:96860800-96886800	Weak transcription	Aorta	Aorta
8	chr9:96861000-96884000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr9:96861400-96875200	Weak transcription	Pancreas	Pancrea
10	chr9:96861400-96884600	Weak transcription	Ovary	ovary
11	chr9:96864200-96877600	Weak transcription	Primary T cells from cord blood	blood
12	chr9:96867600-96889600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:96869000-96875000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:96871000-96873600	Enhancers	Brain Angular Gyrus	brain
15	chr9:96871200-96875000	Weak transcription	Adipose Nuclei	Adipose
16	chr9:96871200-96875200	Enhancers	Brain Substantia Nigra	brain
17	chr9:96871400-96874000	Weak transcription	Fetal Lung	lung
18	chr9:96871400-96882800	Weak transcription	Fetal Stomach	stomach
19	chr9:96871400-96885000	Weak transcription	Right Atrium	heart
20	chr9:96871400-96896400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr9:96871800-96875000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:96872200-96873600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr9:96872600-96873600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:96872600-96874000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:96872800-96873200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:96872800-96873400	Enhancers	HSMM	muscle
27	chr9:96872800-96873600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:96872800-96873600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr9:96872800-96873800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:96872800-96873800	Enhancers	NHEK	skin
31	chr9:96872800-96873800	Enhancers	Osteobl	bone
32	chr9:96872800-96874000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:96872800-96874000	Enhancers	NH-A	brain
34	chr9:96872800-96874200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr9:96872800-96874200	Enhancers	HMEC	breast
36	chr9:96872800-96874400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:96872800-96874400	Enhancers	Brain Hippocampus Middle	brain
38	chr9:96872800-96875200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:96872800-96875200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:96873000-96873200	Enhancers	HSMMtube	muscle
41	chr9:96873000-96873600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr9:96873000-96873600	Enhancers	Brain Anterior Caudate	brain
43	chr9:96873000-96873800	Enhancers	Brain Cingulate Gyrus	brain
44	chr9:96873000-96874200	Flanking Active TSS	K562	blood

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