Variant report

Variant	rs7247259
Chromosome Location	chr19:37851090-37851091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1015848	0.83[EUR][1000 genomes]
rs1015849	1.00[CEU][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes]
rs1035479	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10403582	0.81[EUR][1000 genomes]
rs10403613	0.97[EUR][1000 genomes]
rs10404602	0.96[EUR][1000 genomes]
rs10404920	1.00[CEU][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes]
rs10404945	0.93[CEU][hapmap]
rs10405064	1.00[CEU][hapmap];0.84[JPT][hapmap];0.95[EUR][1000 genomes]
rs10405325	0.87[EUR][1000 genomes]
rs10405407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10406177	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10407084	1.00[CEU][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes]
rs10409204	1.00[CEU][hapmap];0.84[JPT][hapmap];0.84[EUR][1000 genomes]
rs10412043	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10413602	0.85[EUR][1000 genomes]
rs10414904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10415024	1.00[CEU][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes]
rs10415358	0.96[EUR][1000 genomes]
rs10415937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10417503	1.00[CEU][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes]
rs10417844	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10420430	0.85[EUR][1000 genomes]
rs10420754	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10422074	0.85[EUR][1000 genomes]
rs10422423	0.97[EUR][1000 genomes]
rs10422667	0.83[EUR][1000 genomes]
rs10422967	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10424574	1.00[CEU][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes]
rs10426297	0.87[EUR][1000 genomes]
rs10426618	0.83[EUR][1000 genomes]
rs10426666	0.96[EUR][1000 genomes]
rs10426699	0.96[EUR][1000 genomes]
rs11671972	0.95[ASN][1000 genomes]
rs12104380	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12104381	0.93[EUR][1000 genomes]
rs12709812	0.87[EUR][1000 genomes]
rs12709813	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12972252	0.83[EUR][1000 genomes]
rs12979470	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12981532	0.85[EUR][1000 genomes]
rs12982333	0.86[EUR][1000 genomes]
rs13343471	1.00[CEU][hapmap];0.84[JPT][hapmap];0.84[EUR][1000 genomes]
rs13343485	0.90[EUR][1000 genomes]
rs13343502	1.00[CEU][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes]
rs13345116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13345148	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1373991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1382357	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs1529957	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs1559229	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1823061	0.86[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs2081096	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2112922	0.81[EUR][1000 genomes]
rs2112923	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2126977	0.93[CEU][hapmap];0.90[JPT][hapmap]
rs2279148	0.94[CEU][hapmap]
rs2279149	0.93[CEU][hapmap]
rs2291004	0.93[CEU][hapmap];0.84[JPT][hapmap]
rs2303131	1.00[CEU][hapmap];0.84[JPT][hapmap];0.84[EUR][1000 genomes]
rs256736	0.89[AFR][1000 genomes]
rs28373708	0.84[ASN][1000 genomes]
rs28402338	0.97[EUR][1000 genomes]
rs28538699	0.81[EUR][1000 genomes]
rs28605784	0.83[ASN][1000 genomes]
rs28623164	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2891699	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34544865	0.82[EUR][1000 genomes]
rs34603719	0.82[EUR][1000 genomes]
rs35085437	0.97[EUR][1000 genomes]
rs35777021	0.84[EUR][1000 genomes]
rs3745765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3760825	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3803895	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4417644	1.00[CEU][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4452075	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4801759	1.00[CEU][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes]
rs4801803	1.00[CEU][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes]
rs4803210	0.83[CEU][hapmap]
rs4803229	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4803347	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803460	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4803539	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4969487	0.97[EUR][1000 genomes]
rs57795776	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59224125	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6508711	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6508713	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6508714	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6508715	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6508716	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6508719	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6508732	0.93[CEU][hapmap];0.90[JPT][hapmap]
rs6508733	0.93[CEU][hapmap];0.90[JPT][hapmap]
rs67293224	0.87[EUR][1000 genomes]
rs713256	1.00[CEU][hapmap];0.84[JPT][hapmap];0.93[EUR][1000 genomes]
rs7246657	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs7246993	0.85[EUR][1000 genomes]
rs7248733	0.93[CEU][hapmap];0.90[JPT][hapmap]
rs7252099	0.84[EUR][1000 genomes]
rs7252325	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7252346	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7253091	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7253114	0.93[CEU][hapmap]
rs7255407	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7255785	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7255952	0.93[CEU][hapmap]
rs7255972	1.00[CEU][hapmap];0.84[JPT][hapmap];0.84[EUR][1000 genomes]
rs7255996	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7256130	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7257495	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7257672	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7258692	1.00[CEU][hapmap];0.89[JPT][hapmap];0.96[EUR][1000 genomes]
rs7259968	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7408133	0.96[EUR][1000 genomes]
rs7408446	0.84[EUR][1000 genomes]
rs7408563	1.00[CEU][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes]
rs8106839	1.00[CEU][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes]
rs8109038	0.93[CEU][hapmap];0.84[JPT][hapmap]
rs8109632	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8111782	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes]
rs8112610	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9304566	1.00[CEU][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes]
rs9676967	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9917081	1.00[CEU][hapmap];0.85[JPT][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv9718	chr19:37839070-37852872	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr19:37826200-37853200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37826600-37856200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:37826600-37861600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:37826800-37852600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:37826800-37853400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:37827000-37853400	Weak transcription	Stomach Mucosa	stomach
7	chr19:37828000-37855800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:37830000-37853600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr19:37830800-37853200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:37832600-37852200	Weak transcription	Fetal Thymus	thymus
11	chr19:37832800-37852400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:37836800-37852000	Weak transcription	Aorta	Aorta
13	chr19:37837800-37852200	Weak transcription	Right Ventricle	heart
14	chr19:37839000-37852800	Weak transcription	Brain Substantia Nigra	brain
15	chr19:37839200-37851400	Weak transcription	HUVEC	blood vessel
16	chr19:37839600-37853200	Weak transcription	Hela-S3	cervix
17	chr19:37839800-37853600	Weak transcription	Fetal Heart	heart
18	chr19:37840200-37852000	Weak transcription	Esophagus	oesophagus
19	chr19:37840200-37852000	Weak transcription	NHEK	skin
20	chr19:37840200-37852200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:37840400-37853200	Weak transcription	NH-A	brain
22	chr19:37840600-37852400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:37840800-37852400	Weak transcription	Brain Angular Gyrus	brain
24	chr19:37840800-37853200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr19:37841000-37852000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:37841200-37851600	Weak transcription	Left Ventricle	heart
27	chr19:37841200-37855200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:37842600-37855400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr19:37842800-37856600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:37843800-37855800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:37843800-37857600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
32	chr19:37844000-37857000	ZNF genes & repeats	Liver	Liver
33	chr19:37844200-37852000	Weak transcription	Pancreas	Pancrea
34	chr19:37845400-37855800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr19:37845600-37853200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr19:37845600-37853600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr19:37845600-37855800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:37845800-37853000	Weak transcription	NHLF	lung
39	chr19:37846200-37853200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr19:37846200-37856400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:37846400-37852000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:37846400-37854600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
43	chr19:37846600-37853600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr19:37846800-37851400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
45	chr19:37847000-37852800	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr19:37847000-37854200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:37847200-37852400	Weak transcription	Colon Smooth Muscle	Colon
48	chr19:37847400-37851600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr19:37847400-37852400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr19:37847600-37851600	Weak transcription	Colonic Mucosa	Colon

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