Variant report

Variant	rs2713934
Chromosome Location	chr15:56503144-56503145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56500425..56503148-chr15:56514379..56516558,2	K562	blood:
2	chr15:56502619..56504153-chr15:56505058..56507337,2	MCF-7	breast:
3	chr15:56499669..56501343-chr15:56501763..56504338,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10152826	0.88[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10162834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10163161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10438327	0.81[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.83[LWK][hapmap];0.80[TSI][hapmap]
rs11632218	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11852414	0.81[AMR][1000 genomes]
rs11853962	0.83[ASW][hapmap];0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap]
rs11856691	0.84[AMR][1000 genomes]
rs11858173	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11858245	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12899534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12909153	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13379820	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1426070	0.81[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs17238601	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.82[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17238691	0.92[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap]
rs17819384	0.81[ASW][hapmap];0.96[LWK][hapmap]
rs1829543	1.00[CEU][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2247838	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2414466	0.82[CEU][hapmap]
rs2460649	0.96[CEU][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2465405	0.90[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2465969	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2554287	0.92[CEU][hapmap];0.80[TSI][hapmap]
rs2584689	1.00[CEU][hapmap];0.92[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2682027	0.81[AMR][1000 genomes]
rs2682030	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2682031	1.00[CEU][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2682032	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682048	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2682050	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap]
rs2682055	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2713922	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2713937	1.00[CEU][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2713939	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2718905	0.81[AMR][1000 genomes]
rs2718921	0.92[CEU][hapmap]
rs2718924	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2718934	0.83[CHB][hapmap]
rs2718947	0.84[EUR][1000 genomes]
rs2725856	0.92[CEU][hapmap]
rs2725871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs28621861	0.82[AMR][1000 genomes]
rs2947023	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35187662	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35840822	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4774238	0.81[AMR][1000 genomes]
rs4774854	0.92[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap]
rs56274791	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60648061	0.81[AMR][1000 genomes]
rs62044114	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493844	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7163807	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs748344	0.90[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.82[MEX][hapmap];0.91[MKK][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8032826	0.86[EUR][1000 genomes]
rs8041422	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs894415	1.00[CEU][hapmap];0.94[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][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	nsv833019	chr15:56486029-56649933	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv528965	chr15:56489159-56504598	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56453600-56515000	Weak transcription	NHLF	lung
2	chr15:56459200-56511000	Weak transcription	Esophagus	oesophagus
3	chr15:56466000-56514200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr15:56467000-56511600	Weak transcription	Fetal Intestine Small	intestine
5	chr15:56470800-56503800	Weak transcription	Fetal Lung	lung
6	chr15:56480200-56515400	Weak transcription	Hela-S3	cervix
7	chr15:56485600-56521200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:56489200-56503600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:56493200-56515400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:56495200-56504400	Weak transcription	Fetal Intestine Large	intestine
11	chr15:56496600-56515200	Weak transcription	Left Ventricle	heart
12	chr15:56497400-56505000	Weak transcription	HSMMtube	muscle
13	chr15:56498000-56503800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr15:56498200-56508000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr15:56498400-56503800	Weak transcription	HepG2	liver
16	chr15:56498400-56504400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr15:56498400-56514400	Weak transcription	NHEK	skin
18	chr15:56498400-56515200	Weak transcription	HUVEC	blood vessel
19	chr15:56500200-56504000	Weak transcription	A549	lung
20	chr15:56500600-56503600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:56500600-56503600	Weak transcription	Brain Hippocampus Middle	brain
22	chr15:56500600-56513000	Weak transcription	HMEC	breast
23	chr15:56500600-56515200	Weak transcription	Ovary	ovary
24	chr15:56500800-56503200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr15:56500800-56503800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:56500800-56503800	Weak transcription	Psoas Muscle	Psoas
27	chr15:56500800-56504000	Weak transcription	NHDF-Ad	bronchial
28	chr15:56500800-56507600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:56500800-56508000	Weak transcription	Right Ventricle	heart
30	chr15:56500800-56514400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:56500800-56515200	Weak transcription	Thymus	Thymus
32	chr15:56501000-56504400	Weak transcription	HSMM	muscle
33	chr15:56501400-56503400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:56501400-56504400	Weak transcription	K562	blood
35	chr15:56501400-56507800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr15:56501400-56508000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:56501600-56503400	Weak transcription	Primary B cells from cord blood	blood
38	chr15:56501600-56507600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:56501600-56508400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr15:56501600-56511800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:56501800-56503200	Weak transcription	Primary T cells from cord blood	blood
42	chr15:56501800-56504000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr15:56501800-56505800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:56502000-56503800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:56502000-56504400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr15:56502000-56506400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr15:56502000-56507600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr15:56502000-56507800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr15:56502200-56508400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:56502400-56514600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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