Variant report

Variant	rs6503949
Chromosome Location	chr17:46065743-46065744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46065135..46066794-chr17:46070523..46072914,2	MCF-7	breast:
2	chr17:46064933..46067351-chr17:46077390..46079029,2	K562	blood:
3	chr17:46065449..46067684-chr17:46085725..46089051,3	K562	blood:
4	chr17:46063889..46066659-chr17:46081400..46084023,2	MCF-7	breast:
5	chr17:46058631..46063478-chr17:46064617..46070061,8	K562	blood:
6	chr17:46050120..46053097-chr17:46063923..46066102,2	K562	blood:
7	chr17:46059948..46063060-chr17:46063175..46066138,4	MCF-7	breast:
8	chr17:46064874..46067902-chr17:46077258..46079817,3	K562	blood:
9	chr17:45912193..45915082-chr17:46064625..46066503,2	MCF-7	breast:
10	chr17:46047143..46050163-chr17:46062880..46067847,6	MCF-7	breast:
11	chr17:46059865..46061717-chr17:46063064..46066103,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108465	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1476578	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1476579	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2003477	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003478	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2255697	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[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];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2525085	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525087	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525088	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525090	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525091	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525092	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525093	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525094	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2525096	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2525098	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2597161	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597165	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2597168	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597171	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597172	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597173	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597174	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597179	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2597180	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2597181	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2875746	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2905845	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2905846	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2905848	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2905849	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2905850	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2905851	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2905852	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2905853	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34190379	0.94[ASN][1000 genomes]
rs35653190	0.83[ASN][1000 genomes]
rs62064873	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs729785	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729786	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737130	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs739853	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7406338	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7503584	0.94[ASN][1000 genomes]
rs8076314	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs885634	0.93[AMR][1000 genomes];0.93[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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46049800-46066600	Weak transcription	Small Intestine	intestine
2	chr17:46061600-46069200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr17:46061800-46065800	Weak transcription	K562	blood
4	chr17:46061800-46066000	Weak transcription	GM12878-XiMat	blood
5	chr17:46061800-46066600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr17:46061800-46068200	Weak transcription	NHLF	lung
7	chr17:46061800-46079600	Weak transcription	Right Atrium	heart
8	chr17:46062400-46067200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:46062800-46066200	Weak transcription	Fetal Thymus	thymus
10	chr17:46063000-46066600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:46063000-46066800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr17:46063000-46068200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr17:46063400-46068600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr17:46063400-46074200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:46063600-46065800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr17:46063600-46074600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:46063800-46065800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr17:46063800-46068800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:46064000-46065800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr17:46064000-46066400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:46064200-46066400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr17:46064200-46071000	Enhancers	HSMMtube	muscle
23	chr17:46064400-46066200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr17:46064400-46066400	Enhancers	Fetal Intestine Small	intestine
25	chr17:46064400-46067000	Enhancers	Fetal Muscle Leg	muscle
26	chr17:46064600-46065800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr17:46064600-46065800	Enhancers	Brain Germinal Matrix	brain
28	chr17:46064600-46066200	Enhancers	Fetal Intestine Large	intestine
29	chr17:46064600-46066600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:46064800-46071400	Weak transcription	Pancreas	Pancrea
31	chr17:46065000-46065800	Enhancers	Spleen	Spleen
32	chr17:46065200-46066400	Enhancers	Fetal Muscle Trunk	muscle
33	chr17:46065200-46068000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr17:46065200-46068200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr17:46065200-46068200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr17:46065200-46069000	Weak transcription	Fetal Heart	heart
37	chr17:46065200-46069600	Weak transcription	Right Ventricle	heart
38	chr17:46065400-46066800	Weak transcription	Stomach Mucosa	stomach
39	chr17:46065400-46067600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr17:46065400-46068000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr17:46065400-46068200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr17:46065400-46068200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr17:46065400-46068200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr17:46065400-46068200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr17:46065400-46068200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr17:46065400-46068400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:46065400-46069600	Weak transcription	Gastric	stomach
48	chr17:46065400-46069600	Weak transcription	Left Ventricle	heart
49	chr17:46065400-46072600	Weak transcription	Fetal Lung	lung
50	chr17:46065600-46066000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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