Variant report

Variant	rs2357162
Chromosome Location	chr6:119551215-119551216
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119545894..119548762-chr6:119549327..119552049,2	K562	blood:
2	chr6:119544747..119546851-chr6:119549887..119551425,2	MCF-7	breast:
3	chr6:119549395..119552818-chr6:119562345..119566202,3	K562	blood:
4	chr6:119540977..119543297-chr6:119549522..119552338,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10872174	0.86[ASN][1000 genomes]
rs1104741	0.90[EUR][1000 genomes]
rs11153798	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11153802	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11962211	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12207164	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12211868	0.90[EUR][1000 genomes]
rs1408492	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1408493	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1555684	0.86[ASN][1000 genomes]
rs195046	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs195051	0.84[EUR][1000 genomes]
rs195062	0.83[EUR][1000 genomes]
rs195088	0.83[EUR][1000 genomes]
rs195091	0.95[CEU][hapmap];0.80[YRI][hapmap];0.84[EUR][1000 genomes]
rs1980460	0.85[ASN][1000 genomes]
rs2064160	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2142885	0.80[CEU][hapmap];0.89[ASN][1000 genomes]
rs2142890	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2142891	0.86[ASN][1000 genomes]
rs2267672	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2267673	0.85[AFR][1000 genomes]
rs2267674	0.85[AFR][1000 genomes]
rs2267675	0.85[AFR][1000 genomes]
rs2299877	0.85[ASN][1000 genomes]
rs2299878	1.00[YRI][hapmap]
rs2299884	0.80[CEU][hapmap];0.90[ASN][1000 genomes]
rs2357375	0.89[ASN][1000 genomes]
rs3798609	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3822997	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3822998	0.86[ASN][1000 genomes]
rs4945632	0.87[ASN][1000 genomes]
rs4945633	0.89[EUR][1000 genomes]
rs4945634	0.89[ASN][1000 genomes]
rs4946406	0.85[YRI][hapmap]
rs6569058	0.85[ASN][1000 genomes]
rs6569060	0.84[CEU][hapmap];1.00[ASN][1000 genomes]
rs6569061	0.91[CEU][hapmap];1.00[ASN][1000 genomes]
rs6922115	0.89[ASN][1000 genomes]
rs6922274	0.89[ASN][1000 genomes]
rs6933914	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6933961	0.86[ASN][1000 genomes]
rs6939774	0.85[ASN][1000 genomes]
rs7357047	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7357048	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7761203	0.87[ASN][1000 genomes]
rs7775421	0.83[CEU][hapmap];0.90[ASN][1000 genomes]
rs9320682	0.86[ASN][1000 genomes]
rs9320683	0.86[ASN][1000 genomes]
rs9320684	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs9385068	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9401135	0.89[ASN][1000 genomes]
rs9489624	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9489625	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489627	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489628	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9489633	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9489637	1.00[ASN][1000 genomes]
rs980818	0.84[CEU][hapmap];1.00[ASN][1000 genomes]
rs998194	0.84[CEU][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv522725	chr6:119549468-119565043	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119519200-119558400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:119524800-119558400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:119525400-119556000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:119525400-119558400	Weak transcription	Small Intestine	intestine
5	chr6:119525800-119554200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:119525800-119555800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:119526000-119555200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:119526000-119558400	Weak transcription	Placenta	Placenta
9	chr6:119526200-119558400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:119531200-119552000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:119531600-119558400	Weak transcription	NHLF	lung
12	chr6:119537400-119554000	Weak transcription	Fetal Intestine Large	intestine
13	chr6:119537400-119554000	Weak transcription	Fetal Intestine Small	intestine
14	chr6:119537400-119556800	Weak transcription	Fetal Stomach	stomach
15	chr6:119537600-119558400	Weak transcription	Right Atrium	heart
16	chr6:119537800-119555600	Weak transcription	Left Ventricle	heart
17	chr6:119537800-119558400	Weak transcription	Ovary	ovary
18	chr6:119540000-119554800	Weak transcription	Gastric	stomach
19	chr6:119541000-119558400	Weak transcription	NHEK	skin
20	chr6:119545400-119556000	Weak transcription	Fetal Thymus	thymus
21	chr6:119545600-119556000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr6:119545600-119558400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:119545800-119551400	Weak transcription	Adipose Nuclei	Adipose
24	chr6:119546000-119556000	Weak transcription	Fetal Lung	lung
25	chr6:119547000-119553200	Strong transcription	HepG2	liver
26	chr6:119547200-119556200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr6:119547200-119558400	Weak transcription	Spleen	Spleen
28	chr6:119547400-119554400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr6:119547400-119583000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:119547600-119556000	Weak transcription	NHDF-Ad	bronchial
31	chr6:119547600-119558400	Weak transcription	Esophagus	oesophagus
32	chr6:119547600-119558400	Weak transcription	Pancreas	Pancrea
33	chr6:119547600-119558400	Weak transcription	Thymus	Thymus
34	chr6:119548800-119558400	Weak transcription	Primary T cells from cord blood	blood
35	chr6:119549000-119555600	Weak transcription	Aorta	Aorta
36	chr6:119549200-119556000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:119549800-119558400	Weak transcription	Lung	lung
38	chr6:119550000-119558400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:119550000-119561600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:119550600-119552400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:119550600-119553400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:119550800-119553000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:119550800-119553200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:119550800-119558400	Weak transcription	Right Ventricle	heart
45	chr6:119551000-119551400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr6:119551000-119553000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:119551200-119551400	Genic enhancers	K562	blood
48	chr6:119551200-119552400	Strong transcription	Primary B cells from cord blood	blood
49	chr6:119551200-119552800	Strong transcription	Primary hematopoietic stem cells	blood
50	chr6:119551200-119554600	Strong transcription	Liver	Liver

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