Variant report

Variant	rs6511185
Chromosome Location	chr19:21253919-21253920
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10164375	0.87[ASN][1000 genomes]
rs10401931	0.88[ASN][1000 genomes]
rs10405218	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10405406	0.83[AMR][1000 genomes]
rs10406661	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10409844	0.91[ASN][1000 genomes]
rs10409877	0.83[AMR][1000 genomes]
rs10410901	0.85[ASN][1000 genomes]
rs10411038	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10412267	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10413175	0.88[ASN][1000 genomes]
rs10413983	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10414134	0.88[ASN][1000 genomes]
rs10417165	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10421819	0.90[ASN][1000 genomes]
rs10422193	0.81[AMR][1000 genomes]
rs10423541	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10424283	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10425969	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11085424	0.81[AMR][1000 genomes]
rs11666640	0.91[ASN][1000 genomes]
rs11666869	0.83[ASN][1000 genomes]
rs11668795	0.83[AMR][1000 genomes]
rs11670162	0.88[ASN][1000 genomes]
rs11671894	0.81[AMR][1000 genomes]
rs11672142	0.91[ASN][1000 genomes]
rs12104220	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12608706	0.80[ASN][1000 genomes]
rs12609005	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12609167	0.85[ASN][1000 genomes]
rs12609510	0.81[AMR][1000 genomes]
rs12973640	0.88[ASN][1000 genomes]
rs12974016	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12981855	0.90[ASN][1000 genomes]
rs1470021	0.82[ASN][1000 genomes]
rs1470022	0.82[ASN][1000 genomes]
rs1609441	0.88[ASN][1000 genomes]
rs1968523	0.88[ASN][1000 genomes]
rs1971815	0.80[ASN][1000 genomes]
rs2013048	0.88[ASN][1000 genomes]
rs2081050	0.81[AMR][1000 genomes]
rs2082003	0.83[AMR][1000 genomes]
rs2098681	0.81[AMR][1000 genomes]
rs2099648	0.86[AFR][1000 genomes]
rs2115493	0.81[AMR][1000 genomes]
rs2164988	0.87[ASN][1000 genomes]
rs2164989	0.91[ASN][1000 genomes]
rs35137761	0.85[ASN][1000 genomes]
rs4255903	0.82[AFR][1000 genomes]
rs4488591	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4808275	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4809119	0.94[ASN][1000 genomes]
rs4809122	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6511181	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6511183	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6511184	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6511186	0.88[ASN][1000 genomes]
rs6511187	0.83[ASN][1000 genomes]
rs6511188	0.88[ASN][1000 genomes]
rs6511191	0.85[ASN][1000 genomes]
rs6511192	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6511194	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6511195	0.85[ASN][1000 genomes]
rs6511196	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7246723	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7247413	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7248410	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7249283	0.91[ASN][1000 genomes]
rs7249736	0.88[ASN][1000 genomes]
rs7250169	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7253530	0.81[AMR][1000 genomes]
rs7253950	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7254047	0.88[ASN][1000 genomes]
rs7254053	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7254722	0.81[AMR][1000 genomes]
rs7254982	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7257481	0.88[ASN][1000 genomes]
rs7258195	0.88[ASN][1000 genomes]
rs7258409	0.88[ASN][1000 genomes]
rs7260268	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7260600	0.88[ASN][1000 genomes]
rs7343175	0.83[ASN][1000 genomes]
rs741674	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs741676	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8100599	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8101222	0.83[AMR][1000 genomes]
rs8101412	0.88[ASN][1000 genomes]
rs8103825	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8106801	0.88[ASN][1000 genomes]
rs8106923	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8107638	0.85[ASN][1000 genomes]
rs8107982	0.91[ASN][1000 genomes]
rs8109549	0.81[ASN][1000 genomes]
rs8111827	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8112054	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8112216	0.91[ASN][1000 genomes]
rs8112500	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8182465	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9304980	0.91[ASN][1000 genomes]
rs9304982	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9941463	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS 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	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	esv1805898	chr19:21233245-21256249	Strong transcription ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
11	nsv911412	chr19:21233388-21297358	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
2	chr19:21236400-21264800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr19:21240000-21264800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:21240000-21264800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr19:21240200-21264800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:21240800-21256800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:21241000-21264800	Weak transcription	Gastric	stomach
8	chr19:21241200-21264800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:21241400-21264800	Weak transcription	HSMMtube	muscle
10	chr19:21241600-21264800	Weak transcription	Brain Anterior Caudate	brain
11	chr19:21241600-21265000	Weak transcription	HMEC	breast
12	chr19:21247200-21264800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr19:21247400-21260000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr19:21247400-21264800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr19:21247400-21289600	Weak transcription	Aorta	Aorta
16	chr19:21247600-21264800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr19:21247600-21264800	Weak transcription	Ovary	ovary
18	chr19:21247800-21264800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:21247800-21264800	Weak transcription	HSMM	muscle
20	chr19:21248400-21256800	Weak transcription	Osteobl	bone
21	chr19:21248400-21264800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:21248400-21264800	Weak transcription	Brain Angular Gyrus	brain
23	chr19:21248400-21264800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr19:21248600-21264200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:21248600-21264600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr19:21248600-21264800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:21248800-21255800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:21248800-21256000	Weak transcription	Pancreas	Pancrea
29	chr19:21248800-21265000	Weak transcription	Left Ventricle	heart
30	chr19:21249000-21254200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:21249400-21257800	Weak transcription	Fetal Lung	lung
32	chr19:21249600-21264400	Weak transcription	Primary B cells from cord blood	blood
33	chr19:21249800-21265000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:21250000-21264800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:21250200-21264800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr19:21250400-21264200	Weak transcription	Fetal Thymus	thymus
37	chr19:21250600-21264200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr19:21250600-21264200	Weak transcription	Thymus	Thymus
39	chr19:21250600-21264600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:21250800-21264600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:21250800-21264800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:21250800-21264800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr19:21251400-21264800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:21251600-21260000	Weak transcription	Fetal Intestine Small	intestine
45	chr19:21251600-21264800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:21251800-21264800	Weak transcription	Fetal Stomach	stomach
47	chr19:21252000-21259400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr19:21252200-21260000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:21252600-21265000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr19:21253200-21254800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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