Variant report

Variant	rs739853
Chromosome Location	chr17:46067557-46067558
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46066387..46068128-chr17:46076064..46078648,2	MCF-7	breast:
2	chr17:46067363..46070212-chr17:46079475..46083776,4	MCF-7	breast:
3	chr17:46065449..46067684-chr17:46085725..46089051,3	K562	blood:
4	chr17:46058631..46063478-chr17:46064617..46070061,8	K562	blood:
5	chr17:46055284..46057766-chr17:46066465..46069615,3	K562	blood:
6	chr17:46064874..46067902-chr17:46077258..46079817,3	K562	blood:
7	chr17:46047143..46050163-chr17:46062880..46067847,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108465	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11079804	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs11545723	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs1476578	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1476579	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17617250	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs2003477	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003478	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2255697	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255815	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2525084	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2525085	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525091	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525092	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525093	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525094	0.81[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2525096	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2525098	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2597161	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597165	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2597168	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597171	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597180	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2597181	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2875746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2905845	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2905846	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2905848	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2905849	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2905850	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2905851	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2905852	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2905853	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34190379	0.94[ASN][1000 genomes]
rs35653190	0.83[ASN][1000 genomes]
rs4793734	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs4794225	0.82[CHB][hapmap]
rs62064873	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6503949	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737130	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7406338	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7503584	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs8076314	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs885634	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46061600-46069200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr17:46061800-46068200	Weak transcription	NHLF	lung
3	chr17:46061800-46079600	Weak transcription	Right Atrium	heart
4	chr17:46063000-46068200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr17:46063400-46068600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr17:46063400-46074200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:46063600-46074600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr17:46063800-46068800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:46064200-46071000	Enhancers	HSMMtube	muscle
10	chr17:46064800-46071400	Weak transcription	Pancreas	Pancrea
11	chr17:46065200-46068000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr17:46065200-46068200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr17:46065200-46068200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:46065200-46069000	Weak transcription	Fetal Heart	heart
15	chr17:46065200-46069600	Weak transcription	Right Ventricle	heart
16	chr17:46065400-46067600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:46065400-46068000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr17:46065400-46068200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr17:46065400-46068200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr17:46065400-46068200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:46065400-46068200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr17:46065400-46068200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr17:46065400-46068400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:46065400-46069600	Weak transcription	Gastric	stomach
25	chr17:46065400-46069600	Weak transcription	Left Ventricle	heart
26	chr17:46065400-46072600	Weak transcription	Fetal Lung	lung
27	chr17:46065600-46067800	Weak transcription	Placenta	Placenta
28	chr17:46065600-46068000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr17:46065600-46068200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr17:46065600-46068200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:46065600-46068200	Weak transcription	Fetal Brain Male	brain
32	chr17:46065600-46068200	Weak transcription	Fetal Brain Female	brain
33	chr17:46065600-46068200	Weak transcription	NHDF-Ad	bronchial
34	chr17:46065800-46067800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr17:46065800-46068000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:46065800-46068200	Weak transcription	Brain Germinal Matrix	brain
37	chr17:46066000-46067600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr17:46066000-46067600	Enhancers	GM12878-XiMat	blood
39	chr17:46066000-46069200	Enhancers	HSMM	muscle
40	chr17:46066200-46067600	Enhancers	Fetal Thymus	thymus
41	chr17:46066200-46068400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr17:46066400-46068000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr17:46066400-46068200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:46066400-46068400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:46066400-46069400	Weak transcription	Fetal Intestine Small	intestine
46	chr17:46066400-46072600	Weak transcription	Spleen	Spleen
47	chr17:46066600-46067800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr17:46066800-46068000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr17:46067000-46067600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr17:46067000-46067800	Weak transcription	Fetal Muscle Leg	muscle

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