Variant report

Variant	rs17713010
Chromosome Location	chr6:15301316-15301317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15278983..15281973-chr6:15299059..15301860,2	K562	blood:
2	chr6:15300692..15302915-chr6:15309585..15311589,2	MCF-7	breast:
3	chr6:15210366..15212939-chr6:15300598..15303177,2	K562	blood:
4	chr6:15250579..15252953-chr6:15298506..15301463,2	K562	blood:
5	chr6:15211281..15212832-chr6:15299599..15301469,2	K562	blood:
6	chr6:15264447..15266600-chr6:15301287..15304010,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10949291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10949292	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10949293	0.85[ASN][1000 genomes]
rs10949294	1.00[CHB][hapmap]
rs10949295	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs11751391	0.81[ASN][1000 genomes]
rs11759040	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11759478	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs11759828	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11759847	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12192599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12198692	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12198694	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12199895	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12201889	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12204124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12205420	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12206745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12209228	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12209453	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12209539	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12209748	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12210592	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12211278	1.00[CHB][hapmap]
rs12212013	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12214719	0.82[EUR][1000 genomes]
rs12215596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12215740	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13192347	1.00[CHB][hapmap]
rs13194410	1.00[CHB][hapmap]
rs13205396	1.00[CHB][hapmap]
rs13205612	1.00[CHB][hapmap]
rs16876278	1.00[CHB][hapmap]
rs17575737	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs17576233	1.00[CHB][hapmap]
rs17576436	1.00[CHB][hapmap]
rs17619730	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17619838	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17637773	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs17638192	1.00[CHB][hapmap]
rs17687211	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28505073	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55634912	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55980198	0.95[ASN][1000 genomes]
rs6902997	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6919296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6935879	0.89[ASN][1000 genomes]
rs6938919	0.82[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72834551	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834590	0.86[AMR][1000 genomes]
rs7765425	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs794775	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15290600-15309400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:15292000-15303600	Weak transcription	Ovary	ovary
3	chr6:15293000-15302800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:15293600-15302000	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:15294000-15301800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:15294000-15303400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:15294200-15302200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr6:15294400-15303600	Weak transcription	Brain Germinal Matrix	brain
9	chr6:15295000-15303400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:15295000-15305600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:15295800-15311400	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:15296000-15301600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr6:15296000-15302200	Enhancers	Primary B cells from cord blood	blood
14	chr6:15296000-15302400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:15296000-15302800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:15296200-15301600	Enhancers	Primary T cells from cord blood	blood
17	chr6:15296200-15301800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr6:15296600-15303400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:15296600-15305200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr6:15297000-15301600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr6:15297400-15301800	Enhancers	Small Intestine	intestine
22	chr6:15297800-15301800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr6:15297800-15302400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:15298000-15302400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:15298200-15302000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr6:15298200-15302400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:15298400-15302200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:15298400-15302200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr6:15298600-15301600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr6:15299200-15301400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:15299200-15301800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:15299200-15302200	Flanking Active TSS	GM12878-XiMat	blood
33	chr6:15299400-15301400	Enhancers	Fetal Intestine Large	intestine
34	chr6:15299400-15302000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:15299400-15302000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:15299800-15301400	Enhancers	HSMMtube	muscle
37	chr6:15300000-15303400	Weak transcription	Pancreas	Pancrea
38	chr6:15300000-15303600	Weak transcription	Esophagus	oesophagus
39	chr6:15300200-15301800	Enhancers	Fetal Kidney	kidney
40	chr6:15300200-15303000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:15300200-15303400	Weak transcription	Lung	lung
42	chr6:15300200-15303600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:15300200-15305000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:15300200-15308400	Weak transcription	A549	lung
45	chr6:15300200-15312400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:15300400-15303600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr6:15300400-15304200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:15300400-15305000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:15300400-15308000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr6:15300400-15312600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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