Variant report

Variant	rs6508713
Chromosome Location	chr19:37816219-37816220
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10403613	0.88[EUR][1000 genomes]
rs10404602	0.89[EUR][1000 genomes]
rs10404920	0.82[EUR][1000 genomes]
rs10405064	0.86[EUR][1000 genomes]
rs10405325	0.80[EUR][1000 genomes]
rs10405407	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10412043	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10414904	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10415024	0.89[EUR][1000 genomes]
rs10415358	0.89[EUR][1000 genomes]
rs10415937	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10417503	0.88[EUR][1000 genomes]
rs10417844	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10422423	0.88[EUR][1000 genomes]
rs10422967	0.88[EUR][1000 genomes]
rs10424574	0.87[EUR][1000 genomes]
rs10426297	0.87[AFR][1000 genomes]
rs10426666	0.87[EUR][1000 genomes]
rs10426699	0.89[EUR][1000 genomes]
rs11671972	0.81[ASN][1000 genomes]
rs12104380	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12104381	0.88[EUR][1000 genomes]
rs12709813	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12982333	0.86[AFR][1000 genomes]
rs13343485	0.81[EUR][1000 genomes]
rs13345116	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13345148	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1373991	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1559229	0.80[EUR][1000 genomes]
rs1823061	0.88[AFR][1000 genomes]
rs28402338	0.88[EUR][1000 genomes]
rs35085437	0.88[EUR][1000 genomes]
rs3745765	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4417644	0.88[EUR][1000 genomes]
rs4452075	0.81[EUR][1000 genomes]
rs4803229	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4803347	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4969487	0.88[EUR][1000 genomes]
rs57795776	0.80[ASN][1000 genomes]
rs6508711	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6508714	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6508715	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6508716	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6508719	0.80[EUR][1000 genomes]
rs713256	0.84[EUR][1000 genomes]
rs7247259	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7257495	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7257672	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7258692	0.89[EUR][1000 genomes]
rs7259968	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7408133	0.89[EUR][1000 genomes]
rs7408446	0.88[AFR][1000 genomes]
rs7408563	0.89[EUR][1000 genomes]
rs8111782	0.82[EUR][1000 genomes]
rs9304566	0.88[EUR][1000 genomes]
rs9917081	0.81[EUR][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	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv978811	chr19:37749967-37820517	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37809200-37818800	Weak transcription	Esophagus	oesophagus
2	chr19:37809200-37824800	Weak transcription	Stomach Mucosa	stomach
3	chr19:37809400-37825000	Weak transcription	Fetal Thymus	thymus
4	chr19:37809400-37825000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:37809600-37819200	Weak transcription	Brain Substantia Nigra	brain
6	chr19:37809600-37819400	Weak transcription	Pancreas	Pancrea
7	chr19:37809600-37824400	Weak transcription	NHDF-Ad	bronchial
8	chr19:37809600-37825000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:37809800-37816600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr19:37809800-37818400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:37809800-37820000	Weak transcription	HMEC	breast
12	chr19:37810000-37818400	Weak transcription	HUVEC	blood vessel
13	chr19:37810000-37819000	Weak transcription	Fetal Brain Female	brain
14	chr19:37810000-37819400	Weak transcription	Brain Germinal Matrix	brain
15	chr19:37810000-37819400	Weak transcription	NHEK	skin
16	chr19:37810000-37820000	Weak transcription	NHLF	lung
17	chr19:37810000-37825000	Weak transcription	Hela-S3	cervix
18	chr19:37810200-37821800	ZNF genes & repeats	A549	lung
19	chr19:37810400-37818400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:37810400-37821000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:37810400-37821600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:37810600-37818400	Weak transcription	Primary B cells from cord blood	blood
23	chr19:37810600-37824400	Weak transcription	Small Intestine	intestine
24	chr19:37810600-37824800	Weak transcription	Fetal Heart	heart
25	chr19:37810800-37824200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr19:37811000-37821400	Strong transcription	Fetal Stomach	stomach
27	chr19:37811600-37819200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr19:37811600-37819200	Weak transcription	HSMM	muscle
29	chr19:37811600-37820200	Weak transcription	NH-A	brain
30	chr19:37811600-37821000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr19:37811600-37821200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr19:37811600-37825000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:37811800-37816400	Weak transcription	Brain Angular Gyrus	brain
34	chr19:37811800-37819400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr19:37811800-37819600	Weak transcription	HepG2	liver
36	chr19:37811800-37821600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr19:37812200-37818200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:37812200-37821000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr19:37812600-37820600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr19:37812600-37820800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr19:37812600-37821000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr19:37813000-37817200	Strong transcription	Brain Anterior Caudate	brain
43	chr19:37813000-37821400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr19:37813200-37816400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr19:37813200-37817400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:37813200-37821200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:37813200-37821400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:37813200-37821400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:37813200-37821400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:37813200-37821400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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