Variant report

Variant	rs2682030
Chromosome Location	chr15:56500039-56500040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:56498392..56501238-chr15:56507855..56509963,2	K562	blood:
2	chr15:56499669..56501343-chr15:56501763..56504338,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10152826	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10162834	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10163161	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1072358	0.81[EUR][1000 genomes]
rs11632218	0.81[EUR][1000 genomes]
rs11853962	0.80[EUR][1000 genomes]
rs11858173	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11858245	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12898789	0.81[EUR][1000 genomes]
rs12899534	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12907445	0.81[EUR][1000 genomes]
rs12909153	0.80[EUR][1000 genomes]
rs13379820	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17238601	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17238691	0.80[EUR][1000 genomes]
rs17819444	0.80[EUR][1000 genomes]
rs1829543	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247838	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2414466	0.94[ASN][1000 genomes]
rs2460649	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2465405	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2465969	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2584689	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682031	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682032	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2682048	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2682055	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2713922	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2713934	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2713937	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2713939	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2718924	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2718947	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2947023	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34544252	0.80[EUR][1000 genomes]
rs35131119	0.81[EUR][1000 genomes]
rs35187662	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35840822	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36082281	0.80[EUR][1000 genomes]
rs4774852	0.82[AMR][1000 genomes]
rs56274791	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61010710	0.82[AMR][1000 genomes]
rs62044114	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6493836	0.89[ASN][1000 genomes]
rs6493844	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs748344	0.80[EUR][1000 genomes]
rs767142	0.81[EUR][1000 genomes]
rs8032826	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8041422	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs894415	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56453600-56515000	Weak transcription	NHLF	lung
2	chr15:56457400-56500400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:56459200-56511000	Weak transcription	Esophagus	oesophagus
4	chr15:56466000-56514200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr15:56467000-56500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr15:56467000-56511600	Weak transcription	Fetal Intestine Small	intestine
7	chr15:56470800-56503800	Weak transcription	Fetal Lung	lung
8	chr15:56477000-56500400	Weak transcription	Liver	Liver
9	chr15:56480200-56515400	Weak transcription	Hela-S3	cervix
10	chr15:56482600-56500200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:56485000-56502800	Weak transcription	Gastric	stomach
12	chr15:56485600-56521200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:56489200-56503600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:56493200-56515400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:56495200-56501600	Enhancers	Primary B cells from peripheral blood	blood
16	chr15:56495200-56504400	Weak transcription	Fetal Intestine Large	intestine
17	chr15:56495800-56500400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr15:56496400-56501200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr15:56496600-56500400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:56496600-56515200	Weak transcription	Left Ventricle	heart
21	chr15:56496800-56500400	Weak transcription	K562	blood
22	chr15:56497000-56502000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr15:56497000-56502600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:56497000-56502600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr15:56497400-56505000	Weak transcription	HSMMtube	muscle
26	chr15:56497600-56500600	Weak transcription	Brain Substantia Nigra	brain
27	chr15:56497600-56501600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr15:56497800-56500400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr15:56497800-56500400	Weak transcription	HSMM	muscle
30	chr15:56497800-56502400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr15:56498000-56500400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:56498000-56500400	Weak transcription	Adipose Nuclei	Adipose
33	chr15:56498000-56503800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr15:56498200-56500400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr15:56498200-56508000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr15:56498400-56500200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:56498400-56500200	Weak transcription	Osteobl	bone
38	chr15:56498400-56500400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr15:56498400-56500400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:56498400-56500400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr15:56498400-56500400	Weak transcription	NHDF-Ad	bronchial
42	chr15:56498400-56500800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr15:56498400-56501000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr15:56498400-56501400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr15:56498400-56503800	Weak transcription	HepG2	liver
46	chr15:56498400-56504400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr15:56498400-56514400	Weak transcription	NHEK	skin
48	chr15:56498400-56515200	Weak transcription	HUVEC	blood vessel
49	chr15:56498600-56500200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr15:56498600-56500200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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