Variant report

Variant	rs28465595
Chromosome Location	chr19:37196671-37196672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10408063	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10408318	0.97[AFR][1000 genomes]
rs10410939	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10411150	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10413697	0.90[AFR][1000 genomes]
rs10413876	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10414240	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10417106	0.97[AFR][1000 genomes]
rs10417344	0.97[AFR][1000 genomes]
rs10418271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10422700	0.97[AFR][1000 genomes]
rs10425382	0.97[AFR][1000 genomes]
rs11880022	1.00[ASN][1000 genomes]
rs11880159	1.00[ASN][1000 genomes]
rs1227559	1.00[ASN][1000 genomes]
rs1227561	1.00[ASN][1000 genomes]
rs12459208	1.00[ASN][1000 genomes]
rs12459218	1.00[ASN][1000 genomes]
rs12459243	1.00[ASN][1000 genomes]
rs12459325	1.00[ASN][1000 genomes]
rs12459377	0.90[ASN][1000 genomes]
rs12459429	1.00[ASN][1000 genomes]
rs12459527	1.00[ASN][1000 genomes]
rs12459808	1.00[ASN][1000 genomes]
rs12459894	0.90[ASN][1000 genomes]
rs12459915	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12459923	1.00[ASN][1000 genomes]
rs12460049	1.00[ASN][1000 genomes]
rs12460354	1.00[ASN][1000 genomes]
rs12460418	1.00[ASN][1000 genomes]
rs12460420	1.00[ASN][1000 genomes]
rs12460430	1.00[ASN][1000 genomes]
rs12460455	1.00[ASN][1000 genomes]
rs12460482	1.00[ASN][1000 genomes]
rs12460729	1.00[ASN][1000 genomes]
rs12460774	1.00[ASN][1000 genomes]
rs12461023	1.00[ASN][1000 genomes]
rs12461264	1.00[ASN][1000 genomes]
rs12461265	1.00[ASN][1000 genomes]
rs12461280	1.00[ASN][1000 genomes]
rs12461436	1.00[ASN][1000 genomes]
rs12461474	1.00[ASN][1000 genomes]
rs12461707	1.00[ASN][1000 genomes]
rs12461721	1.00[ASN][1000 genomes]
rs12461723	1.00[ASN][1000 genomes]
rs12461738	1.00[ASN][1000 genomes]
rs12461954	1.00[ASN][1000 genomes]
rs12461970	1.00[ASN][1000 genomes]
rs12462037	1.00[ASN][1000 genomes]
rs12462268	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12462281	1.00[ASN][1000 genomes]
rs12462325	1.00[ASN][1000 genomes]
rs12462454	1.00[ASN][1000 genomes]
rs12462471	0.90[ASN][1000 genomes]
rs12462635	1.00[ASN][1000 genomes]
rs12462921	1.00[ASN][1000 genomes]
rs12463012	0.90[ASN][1000 genomes]
rs12974130	1.00[ASN][1000 genomes]
rs12974446	1.00[ASN][1000 genomes]
rs13345382	0.97[AFR][1000 genomes]
rs1625762	1.00[ASN][1000 genomes]
rs1673083	1.00[ASN][1000 genomes]
rs16971568	1.00[ASN][1000 genomes]
rs16973489	1.00[ASN][1000 genomes]
rs17468285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1990964	0.90[ASN][1000 genomes]
rs25419	1.00[ASN][1000 genomes]
rs28398875	1.00[ASN][1000 genomes]
rs28418630	0.81[AFR][1000 genomes]
rs28472526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28645577	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28742010	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28818888	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2912407	0.82[AFR][1000 genomes]
rs2967425	0.81[AFR][1000 genomes]
rs2967426	0.87[AFR][1000 genomes]
rs2967428	0.87[AFR][1000 genomes]
rs2967430	0.82[AFR][1000 genomes]
rs34051375	1.00[ASN][1000 genomes]
rs34106502	1.00[ASN][1000 genomes]
rs35621405	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35706444	1.00[ASN][1000 genomes]
rs3859520	0.90[ASN][1000 genomes]
rs491951	0.90[ASN][1000 genomes]
rs500244	0.90[ASN][1000 genomes]
rs58245911	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58880289	0.97[AFR][1000 genomes]
rs59951429	0.89[AFR][1000 genomes]
rs60268308	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60615280	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61750934	1.00[ASN][1000 genomes]
rs6510562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73607078	0.97[AFR][1000 genomes]
rs73609133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73609981	0.89[AFR][1000 genomes]
rs73612010	0.93[AFR][1000 genomes]
rs73612013	0.97[AFR][1000 genomes]
rs73612031	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73612039	0.97[AFR][1000 genomes]
rs73612043	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73612047	0.97[AFR][1000 genomes]
rs73612050	0.97[AFR][1000 genomes]
rs73612052	0.97[AFR][1000 genomes]
rs73615692	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73615693	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73617803	0.90[AFR][1000 genomes]
rs7508258	1.00[ASN][1000 genomes]
rs8104355	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8111419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers 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	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	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
6	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3420176	chr19:37130161-37207917	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
9	esv34384	chr19:37134068-37330613	Strong transcription Weak 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv470139	chr19:37171201-37264190	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37179400-37199200	Weak transcription	Fetal Heart	heart
2	chr19:37183600-37203200	Weak transcription	K562	blood
3	chr19:37184400-37199000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:37187600-37196800	Weak transcription	Brain Angular Gyrus	brain
5	chr19:37187600-37198400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:37188400-37197000	Weak transcription	Fetal Kidney	kidney
7	chr19:37194000-37254000	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr19:37194400-37211600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
9	chr19:37194400-37213400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr19:37194400-37214400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr19:37194400-37214600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr19:37194400-37215600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:37194400-37219400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr19:37194400-37221400	ZNF genes & repeats	Dnd41	blood
15	chr19:37194400-37253800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:37194600-37197800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:37194600-37197800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
18	chr19:37194600-37204400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr19:37194600-37211400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
20	chr19:37194600-37211800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr19:37194600-37212000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:37194600-37213000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
23	chr19:37194600-37214400	ZNF genes & repeats	A549	lung
24	chr19:37194600-37214600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr19:37194600-37214800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr19:37194600-37215000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:37194600-37215200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:37194600-37220800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr19:37194600-37227000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr19:37194600-37258800	ZNF genes & repeats	Liver	Liver
31	chr19:37194800-37197000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr19:37194800-37214600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
33	chr19:37195000-37197000	Weak transcription	Gastric	stomach
34	chr19:37195000-37197000	Weak transcription	Pancreas	Pancrea
35	chr19:37195400-37196800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:37195400-37196800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:37195400-37196800	Weak transcription	Fetal Intestine Small	intestine
38	chr19:37195400-37196800	Weak transcription	Thymus	Thymus
39	chr19:37195400-37197000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:37195400-37197000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:37195400-37197000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr19:37195400-37197000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:37195400-37197000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:37195400-37197000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:37195400-37197000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:37195400-37197000	Weak transcription	Aorta	Aorta
47	chr19:37195400-37197000	Weak transcription	Esophagus	oesophagus
48	chr19:37195400-37197000	Weak transcription	Fetal Stomach	stomach
49	chr19:37195400-37197000	Weak transcription	Left Ventricle	heart
50	chr19:37195400-37197000	Weak transcription	Lung	lung

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