Variant report

Variant	rs2815175
Chromosome Location	chr9:17165698-17165699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10115784	1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap]
rs10511633	0.81[LWK][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs10962908	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10962909	0.82[AFR][1000 genomes]
rs10962918	0.86[AFR][1000 genomes]
rs10962941	0.93[ASW][hapmap];0.86[YRI][hapmap]
rs10962978	0.81[AFR][1000 genomes]
rs10962995	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap]
rs10963056	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs1113380	1.00[YRI][hapmap]
rs11531702	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11560447	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12235811	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs12236896	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12237062	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.93[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12346397	0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs1413418	0.82[YRI][hapmap]
rs1576958	0.93[ASW][hapmap]
rs16935416	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.82[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1759457	1.00[YRI][hapmap]
rs1759458	0.81[ASW][hapmap]
rs1759464	0.95[YRI][hapmap]
rs1759465	0.81[ASW][hapmap]
rs1930639	1.00[YRI][hapmap]
rs1930641	0.93[ASW][hapmap];1.00[YRI][hapmap]
rs2039413	0.81[JPT][hapmap]
rs2151289	0.81[JPT][hapmap]
rs2483132	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2774621	0.91[YRI][hapmap]
rs2774622	0.81[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs2774623	0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs2774626	0.92[YRI][hapmap]
rs2774628	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2779763	0.81[JPT][hapmap]
rs2779766	0.82[AFR][1000 genomes]
rs2779771	0.91[YRI][hapmap]
rs2779772	0.92[YRI][hapmap]
rs2815181	0.83[AFR][1000 genomes]
rs3808782	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap]
rs3891457	1.00[YRI][hapmap]
rs4128606	0.81[JPT][hapmap]
rs4289910	0.86[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4592125	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4621917	0.81[ASW][hapmap]
rs601960	0.93[ASW][hapmap];1.00[YRI][hapmap]
rs613966	0.93[ASW][hapmap];1.00[YRI][hapmap]
rs620280	0.91[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs642582	1.00[YRI][hapmap]
rs646025	0.93[ASW][hapmap];1.00[YRI][hapmap]
rs6475115	0.83[CEU][hapmap]
rs6475123	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs6475140	1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap]
rs664447	0.93[ASW][hapmap]
rs7031361	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap]
rs7043703	0.87[JPT][hapmap]
rs7868207	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7870287	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7870682	0.83[CEU][hapmap]
rs870270	0.93[ASW][hapmap];1.00[YRI][hapmap]
rs9407787	0.93[ASW][hapmap];0.81[JPT][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2764141	chr9:16903446-17351711	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv892657	chr9:17008137-17223492	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv892658	chr9:17041557-17532840	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1023525	chr9:17121773-17236072	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv892659	chr9:17130360-17236376	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv892660	chr9:17134245-17269437	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv892661	chr9:17134245-17532840	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv428537	chr9:17146369-17308494	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv613693	chr9:17147191-17710407	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv471287	chr9:17165698-17708814	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv466269	chr9:17165698-17710407	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17146200-17167200	Weak transcription	Gastric	stomach
2	chr9:17148800-17167400	Weak transcription	Dnd41	blood
3	chr9:17149400-17167400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:17155400-17169400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:17155600-17169200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:17155800-17167400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr9:17156000-17169000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:17156000-17171400	Weak transcription	Liver	Liver
9	chr9:17156200-17165800	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:17156200-17166200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr9:17156200-17167400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr9:17156200-17168800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:17156200-17168800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr9:17156200-17169000	Weak transcription	Left Ventricle	heart
15	chr9:17156200-17171400	Weak transcription	Ovary	ovary
16	chr9:17156200-17171400	Weak transcription	Pancreas	Pancrea
17	chr9:17156200-17171600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:17156200-17177400	Weak transcription	Fetal Stomach	stomach
19	chr9:17156200-17178200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:17156200-17178800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:17156400-17169000	Weak transcription	Fetal Lung	lung
22	chr9:17157800-17169000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr9:17158000-17167400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:17159800-17195600	Weak transcription	Aorta	Aorta
25	chr9:17163600-17167000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:17165400-17166600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:17165400-17169000	Weak transcription	Brain Germinal Matrix	brain
28	chr9:17165600-17166000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr9:17165600-17166000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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