Variant report

Variant	rs492813
Chromosome Location	chr15:40446994-40446995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40441619..40443769-chr15:40446969..40449341,2	K562	blood:
2	chr15:40441619..40444532-chr15:40445691..40448469,3	K562	blood:
3	chr15:40446320..40448068-chr15:40456241..40458639,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10518681	0.96[EUR][1000 genomes]
rs10518682	0.95[CEU][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11632939	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11634034	0.85[EUR][1000 genomes]
rs11636402	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11637268	0.92[EUR][1000 genomes]
rs11638942	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11854027	0.96[EUR][1000 genomes]
rs11854103	0.96[EUR][1000 genomes]
rs11854965	0.96[EUR][1000 genomes]
rs12438986	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12898627	0.93[EUR][1000 genomes]
rs12899779	0.94[EUR][1000 genomes]
rs12902191	0.96[EUR][1000 genomes]
rs12908093	0.96[EUR][1000 genomes]
rs12910199	0.95[EUR][1000 genomes]
rs12911157	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12913620	0.95[EUR][1000 genomes]
rs12913741	0.95[EUR][1000 genomes]
rs12913803	0.94[EUR][1000 genomes]
rs12915249	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12916901	0.96[EUR][1000 genomes]
rs1471583	0.96[EUR][1000 genomes]
rs1565863	0.96[EUR][1000 genomes]
rs1565864	0.96[EUR][1000 genomes]
rs1565865	0.96[EUR][1000 genomes]
rs16970409	0.96[EUR][1000 genomes]
rs1801376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2277559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412480	0.96[EUR][1000 genomes]
rs2412482	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3214012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34358001	0.95[EUR][1000 genomes]
rs4244573	0.96[EUR][1000 genomes]
rs4244574	0.96[EUR][1000 genomes]
rs4923857	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4924419	0.94[EUR][1000 genomes]
rs4924420	0.95[EUR][1000 genomes]
rs4924424	0.96[EUR][1000 genomes]
rs4924427	0.92[EUR][1000 genomes]
rs4924430	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4924432	0.94[ASN][1000 genomes]
rs500693	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs521896	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs597752	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6492932	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6492935	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7162894	0.88[EUR][1000 genomes]
rs7164047	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7169518	0.81[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7170412	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7177759	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs797420	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8037190	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs811746	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3423229	chr15:40417126-40447686	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40442800-40448200	Weak transcription	Fetal Kidney	kidney
2	chr15:40443000-40447600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:40443000-40447600	Weak transcription	Stomach Mucosa	stomach
4	chr15:40443200-40452800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr15:40444400-40448400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:40445800-40448200	Enhancers	Placenta	Placenta
7	chr15:40446400-40447000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr15:40446400-40448600	Enhancers	NHEK	skin
9	chr15:40446400-40449400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr15:40446600-40447000	Enhancers	GM12878-XiMat	blood
11	chr15:40446600-40447600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr15:40446600-40448200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:40446600-40448800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:40446800-40447000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr15:40446800-40447000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr15:40446800-40447000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr15:40446800-40447200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr15:40446800-40447200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:40446800-40447400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:40446800-40448200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr15:40446800-40448400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:40446800-40448400	Enhancers	HMEC	breast
23	chr15:40446800-40448600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:40446800-40448800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr15:40446800-40448800	Enhancers	Pancreas	Pancrea
26	chr15:40446800-40450400	Enhancers	H9 Cell Line	embryonic stem cell

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