Variant report

Variant	rs11854965
Chromosome Location	chr15:40442707-40442708
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40437357..40438931-chr15:40442265..40443877,2	K562	blood:
2	chr15:40441619..40443769-chr15:40446969..40449341,2	K562	blood:
3	chr15:40441619..40444532-chr15:40445691..40448469,3	K562	blood:

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1031963	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1031964	0.96[ASN][1000 genomes]
rs10518681	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10518682	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11070253	0.92[ASN][1000 genomes]
rs11630664	0.93[ASN][1000 genomes]
rs11631616	0.96[ASN][1000 genomes]
rs11632939	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11634034	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11634065	0.89[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs11636204	0.95[ASN][1000 genomes]
rs11636293	0.93[ASN][1000 genomes]
rs11636402	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11637268	0.89[EUR][1000 genomes]
rs11637555	0.88[ASN][1000 genomes]
rs11638942	0.94[EUR][1000 genomes]
rs11854027	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11854103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438986	0.99[EUR][1000 genomes]
rs12898627	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12898804	0.89[ASN][1000 genomes]
rs12899102	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12899779	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12901947	0.96[ASN][1000 genomes]
rs12902191	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12902458	0.93[ASN][1000 genomes]
rs12903940	0.93[ASN][1000 genomes]
rs12905742	0.96[ASN][1000 genomes]
rs12908093	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12909888	0.89[ASN][1000 genomes]
rs12910199	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12911157	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12912902	0.93[ASN][1000 genomes]
rs12912982	0.86[ASN][1000 genomes]
rs12913620	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12913741	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12913803	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12913994	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12915249	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12916805	0.92[ASN][1000 genomes]
rs12916901	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1471583	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1565863	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1565864	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1565865	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1565866	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16970409	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801376	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1845477	0.93[ASN][1000 genomes]
rs2002425	0.96[ASN][1000 genomes]
rs2128013	0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs2172742	0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs2277559	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2277560	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2290551	0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs2305653	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2412480	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2412482	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs2898988	0.91[ASN][1000 genomes]
rs3214012	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs34191615	0.93[ASN][1000 genomes]
rs34358001	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34823877	0.93[ASN][1000 genomes]
rs3759839	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3759842	0.96[ASN][1000 genomes]
rs4244573	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4244574	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4923856	0.96[ASN][1000 genomes]
rs4923857	0.95[EUR][1000 genomes]
rs4924419	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4924420	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4924422	0.93[ASN][1000 genomes]
rs4924424	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4924425	0.93[ASN][1000 genomes]
rs4924427	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4924428	0.96[ASN][1000 genomes]
rs4924429	0.94[ASN][1000 genomes]
rs4924430	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs492813	0.96[EUR][1000 genomes]
rs500693	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs521896	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs597752	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62020024	0.96[ASN][1000 genomes]
rs6492932	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6492935	0.94[EUR][1000 genomes]
rs7162894	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7163546	0.90[ASN][1000 genomes]
rs7164047	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7164783	0.89[ASN][1000 genomes]
rs7169518	0.81[CEU][hapmap]
rs7169842	0.89[ASN][1000 genomes]
rs7170412	0.88[ASN][1000 genomes]
rs7177759	0.95[EUR][1000 genomes]
rs7180335	0.94[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs7495483	0.89[ASN][1000 genomes]
rs797420	0.96[EUR][1000 genomes]
rs8023395	0.86[ASN][1000 genomes]
rs8026738	0.93[ASN][1000 genomes]
rs8037190	0.95[EUR][1000 genomes]
rs8043080	0.96[ASN][1000 genomes]
rs811746	0.96[EUR][1000 genomes]
rs876821	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	esv3500491	chr15:40417175-40446353	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3500492	chr15:40417175-40446353	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv974494	chr15:40440073-40444446	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40438400-40446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:40438800-40446800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:40440200-40446800	Weak transcription	Pancreas	Pancrea
4	chr15:40441800-40445000	Enhancers	HMEC	breast
5	chr15:40441800-40445200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:40441800-40445200	Enhancers	NHEK	skin
7	chr15:40442000-40443200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr15:40442000-40443400	Enhancers	Brain Germinal Matrix	brain
9	chr15:40442000-40443400	Enhancers	Fetal Muscle Leg	muscle
10	chr15:40442000-40444400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:40442000-40445200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:40442200-40443000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:40442200-40443000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:40442200-40443000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:40442200-40443000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:40442200-40443000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:40442200-40443000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:40442200-40443000	Enhancers	Stomach Mucosa	stomach
19	chr15:40442200-40443000	Enhancers	A549	lung
20	chr15:40442200-40443200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr15:40442200-40443200	Enhancers	NH-A	brain
22	chr15:40442200-40443600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:40442200-40443600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:40442200-40444200	Enhancers	Psoas Muscle	Psoas
25	chr15:40442200-40444400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr15:40442400-40442800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:40442400-40442800	Enhancers	Fetal Heart	heart
28	chr15:40442400-40442800	Flanking Active TSS	Hela-S3	cervix
29	chr15:40442400-40443000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr15:40442400-40443000	Enhancers	NHDF-Ad	bronchial
31	chr15:40442400-40443000	Enhancers	Osteobl	bone
32	chr15:40442400-40443200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr15:40442400-40443200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr15:40442400-40443600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:40442400-40444400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr15:40442600-40442800	Enhancers	Fetal Kidney	kidney
37	chr15:40442600-40442800	Bivalent Enhancer	HepG2	liver
38	chr15:40442600-40442800	Flanking Active TSS	HSMMtube	muscle
39	chr15:40442600-40443000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:40442600-40443000	Flanking Active TSS	HSMM	muscle
41	chr15:40442600-40443200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr15:40442600-40443200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:40442600-40444000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:40442600-40446800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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