Variant report

Variant	rs6493118
Chromosome Location	chr15:45030563-45030564
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45005533..45006393-chr15:45030225..45030830,2	K562	blood:
2	chr15:45005587..45006311-chr15:45030339..45030895,2	MCF-7	breast:
3	chr15:44953520..44955871-chr15:45029183..45030860,2	MCF-7	breast:
4	chr15:44955507..44956476-chr15:45030257..45031245,5	K562	blood:
5	chr15:45003364..45004905-chr15:45029799..45032305,2	MCF-7	breast:
6	chr15:44870307..44871278-chr15:45030123..45030810,2	K562	blood:
7	chr15:44954304..44956887-chr15:45029224..45032187,2	K562	blood:
8	chr15:44884872..44885831-chr15:45030329..45031205,3	K562	blood:
9	chr15:44955602..44957443-chr15:45029011..45031325,4	MCF-7	breast:
10	chr15:44870365..44871328-chr15:45030317..45031273,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000229474	Chromatin interaction
ENSG00000166710	Chromatin interaction
ENSG00000104133	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10163110	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10444818	0.89[ASN][1000 genomes]
rs1137516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11634059	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11634063	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11639157	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12912870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1630168	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1669833	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1690313	0.82[CHB][hapmap];0.87[EUR][1000 genomes]
rs16974543	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1720723	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1720724	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1869125	0.83[CHB][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1901530	0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1901538	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1993152	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs1993153	0.94[ASN][1000 genomes]
rs2084835	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2167595	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2468067	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2470913	0.82[ASN][1000 genomes]
rs2960206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3100140	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3100141	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3110677	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759878	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4923989	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs4923990	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4923991	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4923993	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62024991	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62025968	0.94[EUR][1000 genomes]
rs62025969	0.97[EUR][1000 genomes]
rs6416439	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6416440	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6493110	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493112	0.94[ASN][1000 genomes]
rs6493114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493116	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493124	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493125	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493126	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6493127	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6493128	0.94[EUR][1000 genomes]
rs7151	1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7165535	1.00[CHB][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]
rs7168090	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7172357	0.94[EUR][1000 genomes]
rs7172376	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7496437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7496559	1.00[EUR][1000 genomes]
rs7497862	0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8035787	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8036223	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8038532	0.97[EUR][1000 genomes]
rs935885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs935888	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs935889	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
2	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
4	nsv832990	chr15:44990765-45162714	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45022800-45030800	Weak transcription	HUVEC	blood vessel
2	chr15:45024000-45031200	Weak transcription	HMEC	breast
3	chr15:45024200-45032200	Weak transcription	Right Atrium	heart
4	chr15:45024400-45031200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:45025000-45030800	Weak transcription	Brain Angular Gyrus	brain
6	chr15:45025000-45030800	Weak transcription	Brain Anterior Caudate	brain
7	chr15:45027200-45030800	Weak transcription	Brain Substantia Nigra	brain
8	chr15:45028800-45030800	Weak transcription	Primary T cells from cord blood	blood
9	chr15:45028800-45031200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:45028800-45031400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr15:45028800-45031600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr15:45029000-45030600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:45029000-45030600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr15:45029000-45031200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr15:45029000-45031400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr15:45029000-45031400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:45029000-45031600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr15:45029000-45032600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr15:45029800-45031200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr15:45030200-45031000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr15:45030200-45031000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr15:45030200-45031200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr15:45030400-45030600	Enhancers	Primary B cells from peripheral blood	blood
24	chr15:45030400-45030600	Enhancers	Placenta	Placenta

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