Variant report

Variant	rs342770
Chromosome Location	chr13:53208237-53208238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:53207158..53209023-chr13:53213230..53214955,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1057478	0.85[CHB][hapmap]
rs11148260	0.80[AMR][1000 genomes]
rs11616261	0.89[ASN][1000 genomes]
rs11616459	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11617331	0.82[ASN][1000 genomes]
rs1811894	0.84[ASN][1000 genomes]
rs1811895	0.84[ASN][1000 genomes]
rs1924036	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2038826	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs2147676	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2147692	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs2575960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342768	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342778	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3742297	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs4284531	0.85[CHB][hapmap]
rs4884235	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4885325	0.82[ASN][1000 genomes]
rs616969	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs61958118	0.82[ASN][1000 genomes]
rs6561671	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6561675	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7139495	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7139630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7324427	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7328729	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7334137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7334677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7336771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7337021	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7399901	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7997186	0.90[ASN][1000 genomes]
rs7999849	0.86[ASN][1000 genomes]
rs9526951	0.91[ASN][1000 genomes]
rs9526968	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs9526974	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs9526975	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs9526982	0.87[ASN][1000 genomes]
rs9536104	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9536123	0.89[CEU][hapmap]
rs9536197	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9536200	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9536202	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9536211	0.93[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs9536212	0.93[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs9536217	0.90[ASN][1000 genomes]
rs9536219	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs9536220	0.83[CHB][hapmap]
rs9536223	0.91[ASN][1000 genomes]
rs9536236	0.87[ASN][1000 genomes]
rs9536247	0.85[ASN][1000 genomes]
rs9536262	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs9563113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9563114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9568750	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9568751	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	esv1838257	chr13:52971893-53231454	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv900085	chr13:53022518-53216622	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv820041	chr13:53061338-53280588	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1044949	chr13:53071140-53289426	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv819201	chr13:53137490-53240330	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1044051	chr13:53139132-53287023	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1038942	chr13:53139132-53289426	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv1039911	chr13:53139132-53303074	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv1037189	chr13:53173013-53287060	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv541775	chr13:53173013-53287060	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	nsv1047265	chr13:53173013-53311419	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv541776	chr13:53173013-53311419	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
15	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
16	nsv976119	chr13:53176029-53218496	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53192000-53224800	Weak transcription	Small Intestine	intestine
2	chr13:53192000-53225000	Weak transcription	Spleen	Spleen
3	chr13:53192200-53214000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr13:53192200-53224200	Weak transcription	Esophagus	oesophagus
5	chr13:53192200-53224800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:53192200-53224800	Weak transcription	Gastric	stomach
7	chr13:53192200-53224800	Weak transcription	Pancreas	Pancrea
8	chr13:53192200-53224800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr13:53192400-53214200	Weak transcription	Psoas Muscle	Psoas
10	chr13:53192400-53214600	Weak transcription	Placenta	Placenta
11	chr13:53192400-53223400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr13:53192400-53224800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr13:53192400-53224800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr13:53192400-53225000	Weak transcription	Right Ventricle	heart
15	chr13:53192400-53225800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr13:53192600-53223400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr13:53192600-53224600	Weak transcription	K562	blood
18	chr13:53192600-53224800	Weak transcription	Fetal Brain Male	brain
19	chr13:53192600-53225000	Weak transcription	Osteobl	bone
20	chr13:53192800-53216200	Weak transcription	HSMMtube	muscle
21	chr13:53192800-53224200	Weak transcription	Hela-S3	cervix
22	chr13:53192800-53224400	Weak transcription	Fetal Heart	heart
23	chr13:53192800-53224800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr13:53192800-53224800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr13:53192800-53224800	Weak transcription	Brain Angular Gyrus	brain
26	chr13:53193000-53224600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:53193000-53224600	Weak transcription	HepG2	liver
28	chr13:53193000-53225000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr13:53193400-53211400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr13:53195000-53224800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr13:53196000-53209400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr13:53198200-53214600	Weak transcription	NH-A	brain
33	chr13:53198600-53225000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr13:53198800-53214000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:53200200-53225000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr13:53201800-53212600	Weak transcription	HSMM	muscle
37	chr13:53203400-53225400	Weak transcription	Aorta	Aorta
38	chr13:53203800-53214200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:53203800-53220200	Weak transcription	NHEK	skin
40	chr13:53204000-53215600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr13:53204200-53211600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:53204200-53213200	Weak transcription	Brain Germinal Matrix	brain
43	chr13:53204200-53214200	Weak transcription	Brain Substantia Nigra	brain
44	chr13:53204200-53214200	Weak transcription	Fetal Lung	lung
45	chr13:53204200-53214400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:53204200-53223400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr13:53204200-53225000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr13:53204200-53225000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr13:53204400-53212200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr13:53204400-53214000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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