Variant report

Variant	rs12901947
Chromosome Location	chr15:40447609-40447610
allele	C/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: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1031963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1031964	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518681	0.94[ASN][1000 genomes]
rs10518682	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11070253	0.96[ASN][1000 genomes]
rs11630664	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11631616	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632939	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs11634065	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11636204	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11636293	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11637555	0.92[ASN][1000 genomes]
rs11854027	0.96[ASN][1000 genomes]
rs11854103	0.96[ASN][1000 genomes]
rs11854965	0.96[ASN][1000 genomes]
rs12898627	0.87[ASN][1000 genomes]
rs12898804	0.93[ASN][1000 genomes]
rs12899102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12899779	0.87[ASN][1000 genomes]
rs12902191	0.94[ASN][1000 genomes]
rs12902458	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12903940	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12905742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12908093	0.96[ASN][1000 genomes]
rs12909888	0.93[ASN][1000 genomes]
rs12910199	0.91[ASN][1000 genomes]
rs12912902	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12912982	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12913620	0.84[ASN][1000 genomes]
rs12913741	0.84[ASN][1000 genomes]
rs12913803	0.84[ASN][1000 genomes]
rs12913994	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12915249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12916805	0.96[ASN][1000 genomes]
rs12916901	0.94[ASN][1000 genomes]
rs1471583	0.89[ASN][1000 genomes]
rs1565863	0.94[ASN][1000 genomes]
rs1565864	0.94[ASN][1000 genomes]
rs1565865	0.94[ASN][1000 genomes]
rs1565866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970409	0.96[ASN][1000 genomes]
rs1845477	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2002425	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2128013	0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2172742	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs2277560	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2290551	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs2305653	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2412480	0.94[ASN][1000 genomes]
rs2412482	0.81[CHB][hapmap]
rs2898988	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34191615	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34358001	0.94[ASN][1000 genomes]
rs34823877	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759842	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4244573	0.93[ASN][1000 genomes]
rs4244574	0.94[ASN][1000 genomes]
rs4923856	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4924419	0.86[ASN][1000 genomes]
rs4924420	0.83[ASN][1000 genomes]
rs4924422	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4924424	0.94[ASN][1000 genomes]
rs4924425	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4924427	0.97[ASN][1000 genomes]
rs4924428	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4924430	0.97[ASN][1000 genomes]
rs62020024	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492932	0.81[CHB][hapmap]
rs7162894	0.93[ASN][1000 genomes]
rs7163546	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7164047	0.94[ASN][1000 genomes]
rs7164783	0.93[ASN][1000 genomes]
rs7169842	0.93[ASN][1000 genomes]
rs7170412	0.87[ASN][1000 genomes]
rs7180335	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs7495483	0.93[ASN][1000 genomes]
rs8023395	0.90[ASN][1000 genomes]
rs8026738	0.97[ASN][1000 genomes]
rs8043080	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs876821	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];1.00[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40442800-40448200	Weak transcription	Fetal Kidney	kidney
2	chr15:40443200-40452800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr15:40444400-40448400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:40445800-40448200	Enhancers	Placenta	Placenta
5	chr15:40446400-40448600	Enhancers	NHEK	skin
6	chr15:40446400-40449400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr15:40446600-40448200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:40446600-40448800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:40446800-40448200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr15:40446800-40448400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:40446800-40448400	Enhancers	HMEC	breast
12	chr15:40446800-40448600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:40446800-40448800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr15:40446800-40448800	Enhancers	Pancreas	Pancrea
15	chr15:40446800-40450400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr15:40447000-40447800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr15:40447000-40447800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr15:40447000-40448200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr15:40447000-40448400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr15:40447000-40448800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:40447000-40449800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr15:40447200-40447800	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr15:40447200-40448200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:40447200-40448400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:40447200-40448600	Enhancers	Esophagus	oesophagus
26	chr15:40447400-40447800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr15:40447400-40447800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:40447400-40448800	Enhancers	GM12878-XiMat	blood
29	chr15:40447600-40447800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:40447600-40448000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:40447600-40448000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr15:40447600-40448000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:40447600-40448000	Enhancers	Duodenum Mucosa	Duodenum
34	chr15:40447600-40448400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr15:40447600-40448600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr15:40447600-40448600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr15:40447600-40448600	Enhancers	Fetal Thymus	thymus
38	chr15:40447600-40448600	Enhancers	Lung	lung
39	chr15:40447600-40449200	Enhancers	Stomach Mucosa	stomach

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