Variant report

Variant	rs17597215
Chromosome Location	chr13:52188460-52188461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1060562	0.86[ASN][1000 genomes]
rs12146894	0.86[ASN][1000 genomes]
rs12427748	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1475195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17075907	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17532412	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17532524	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17532936	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17597531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1885854	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2296028	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2296029	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2780461	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2897944	0.85[ASN][1000 genomes]
rs3908968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41292776	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4555048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs483879	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs488261	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs491103	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60757273	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73199734	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73199746	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9526783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526788	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9526793	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9526794	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9535714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9535715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9535717	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535722	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535734	0.86[ASN][1000 genomes]
rs9535735	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9535737	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9535738	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9535739	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9535741	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9535743	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535744	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535745	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535746	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9535747	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535748	0.85[ASN][1000 genomes]
rs9535749	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9535750	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9535751	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9535752	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9535753	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9535755	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9535756	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832612	chr13:52176983-52362525	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52165600-52188600	Weak transcription	Fetal Stomach	stomach
2	chr13:52168400-52194400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:52169800-52188600	Weak transcription	Esophagus	oesophagus
4	chr13:52169800-52188600	Weak transcription	Gastric	stomach
5	chr13:52173600-52190400	Weak transcription	Fetal Heart	heart
6	chr13:52175000-52188600	Weak transcription	Fetal Muscle Leg	muscle
7	chr13:52176000-52188600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:52178200-52188600	Weak transcription	Left Ventricle	heart
9	chr13:52178200-52188600	Weak transcription	Lung	lung
10	chr13:52180600-52192000	Weak transcription	A549	lung
11	chr13:52181600-52188600	Weak transcription	Thymus	Thymus
12	chr13:52182200-52188600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:52182200-52188600	Weak transcription	Aorta	Aorta
14	chr13:52182200-52188600	Weak transcription	Fetal Brain Female	brain
15	chr13:52182200-52194400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:52182400-52188600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:52182400-52191600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr13:52183400-52188600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr13:52183400-52188600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr13:52184200-52188600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:52184400-52188600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:52184400-52194400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr13:52185800-52188600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:52186000-52188600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr13:52186000-52189000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:52186400-52188600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr13:52186600-52189000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr13:52186800-52193000	Weak transcription	HepG2	liver
29	chr13:52187200-52189000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr13:52187200-52189200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr13:52187400-52192400	Weak transcription	HMEC	breast
32	chr13:52187400-52194000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr13:52187600-52188600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr13:52187600-52188600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr13:52187600-52188600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr13:52187600-52188600	Weak transcription	Ovary	ovary
37	chr13:52187600-52188600	Weak transcription	Pancreas	Pancrea
38	chr13:52187600-52188600	Weak transcription	Right Atrium	heart
39	chr13:52187600-52188600	Weak transcription	Right Ventricle	heart
40	chr13:52187600-52188600	Weak transcription	Spleen	Spleen
41	chr13:52187600-52190000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr13:52187600-52192200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:52187600-52192400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:52187800-52188800	Enhancers	NHEK	skin
45	chr13:52187800-52189000	Enhancers	NHLF	lung
46	chr13:52187800-52191600	Weak transcription	Osteobl	bone
47	chr13:52188200-52188600	Enhancers	Primary T cells fromperipheralblood	blood
48	chr13:52188200-52188600	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr13:52188200-52188800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr13:52188200-52189000	Enhancers	Cortex derived primary cultured neurospheres	brain

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