Variant report

Variant	rs291758
Chromosome Location	chr9:93683475-93683476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:93681178..93683556-chr9:93684318..93687198,2	MCF-7	breast:
2	chr9:93683300..93685317-chr9:93705427..93707006,2	MCF-7	breast:
3	chr9:93682025..93684983-chr9:93787806..93789762,2	MCF-7	breast:
4	chr9:93677459..93679335-chr9:93682010..93683558,2	MCF-7	breast:
5	chr9:93683207..93685388-chr9:94184914..94187994,3	MCF-7	breast:
6	chr9:93682204..93686521-chr9:93708730..93712212,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165030	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1041381	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158683	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1614353	0.95[ASN][1000 genomes]
rs1615082	0.95[ASN][1000 genomes]
rs167100	0.95[ASN][1000 genomes]
rs1675292	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675293	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675294	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1675295	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675296	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675297	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675298	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675302	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1675303	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675305	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1675306	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1675307	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1675310	0.85[ASN][1000 genomes]
rs1675312	0.95[ASN][1000 genomes]
rs1675313	0.95[ASN][1000 genomes]
rs169743	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1755982	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1755983	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184114	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs190029	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1964918	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2774255	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs291746	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs291747	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs291749	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs291752	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291754	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291755	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291757	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291759	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291761	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291763	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs291766	0.85[ASN][1000 genomes]
rs291767	0.90[ASN][1000 genomes]
rs296653	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs296654	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs296656	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs296658	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs296659	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs296660	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs296662	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs296670	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs296674	0.83[EUR][1000 genomes]
rs296678	0.83[EUR][1000 genomes]
rs296685	0.83[EUR][1000 genomes]
rs296687	0.83[EUR][1000 genomes]
rs296689	0.83[EUR][1000 genomes]
rs296692	0.83[EUR][1000 genomes]
rs296697	0.83[EUR][1000 genomes]
rs296704	0.83[EUR][1000 genomes]
rs296705	0.83[EUR][1000 genomes]
rs364622	0.83[EUR][1000 genomes]
rs376648	0.83[EUR][1000 genomes]
rs390574	0.83[EUR][1000 genomes]
rs426365	0.83[EUR][1000 genomes]
rs928208	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831652	chr9:93527411-93696923	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv893568	chr9:93539879-93774385	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1038685	chr9:93556174-93685729	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1039326	chr9:93598856-93685729	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1053252	chr9:93610132-93699103	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv3437897	chr9:93680731-93685229	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93681400-93686800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:93681400-93687200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr9:93681600-93683800	Enhancers	Right Atrium	heart
4	chr9:93681600-93684000	Enhancers	Esophagus	oesophagus
5	chr9:93682200-93684000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:93682200-93684000	Enhancers	Fetal Stomach	stomach
7	chr9:93682200-93684200	Enhancers	Adipose Nuclei	Adipose
8	chr9:93682400-93683600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr9:93682400-93684000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:93682400-93684000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:93682400-93684800	Enhancers	Pancreas	Pancrea
12	chr9:93682600-93683600	Weak transcription	Fetal Muscle Leg	muscle
13	chr9:93682600-93683800	Enhancers	Brain Anterior Caudate	brain
14	chr9:93682600-93683800	Enhancers	Fetal Lung	lung
15	chr9:93682600-93684600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:93683000-93684000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr9:93683000-93692000	Weak transcription	Right Ventricle	heart
18	chr9:93683200-93683600	Flanking Active TSS	HMEC	breast
19	chr9:93683200-93683600	Flanking Active TSS	NHEK	skin
20	chr9:93683200-93683800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:93683200-93683800	Enhancers	Fetal Brain Male	brain
22	chr9:93683200-93684000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:93683200-93684000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr9:93683200-93684000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr9:93683200-93684000	Enhancers	Liver	Liver
26	chr9:93683400-93683600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:93683400-93683600	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr9:93683400-93683600	Enhancers	Stomach Smooth Muscle	stomach
29	chr9:93683400-93683600	Enhancers	NH-A	brain
30	chr9:93683400-93683800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:93683400-93683800	Weak transcription	Aorta	Aorta
32	chr9:93683400-93683800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr9:93683400-93683800	Enhancers	Gastric	stomach
34	chr9:93683400-93683800	Enhancers	Ovary	ovary
35	chr9:93683400-93683800	Enhancers	Osteobl	bone
36	chr9:93683400-93684000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:93683400-93684000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr9:93683400-93684000	Enhancers	Fetal Brain Female	brain
39	chr9:93683400-93684000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr9:93683400-93684600	Enhancers	Fetal Heart	heart

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