Variant report

Variant	rs8111466
Chromosome Location	chr19:39260000-39260001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10403583	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10422360	0.93[ASN][1000 genomes]
rs11671359	0.95[ASN][1000 genomes]
rs35116302	0.89[ASN][1000 genomes]
rs4802817	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs4802853	0.85[ASN][1000 genomes]
rs6508817	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7255094	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8108748	0.88[ASN][1000 genomes]
rs974454	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv911668	chr19:39174669-39291771	Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv1064688	chr19:39249059-39291526	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv1061904	chr19:39249692-39302843	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv911670	chr19:39250308-39322087	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv911671	chr19:39252238-39306425	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
8	nsv911672	chr19:39252238-39318006	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1063592	chr19:39257977-39287265	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8111466	CAPN12	cis	Heart Left Ventricle	GTEx
rs8111466	LGALS7	cis	Skin Sun Exposed Lower leg	GTEx
rs8111466	LGALS7	cis	Esophagus Mucosa	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39246400-39270800	Weak transcription	K562	blood
2	chr19:39254200-39265400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:39255800-39260200	Weak transcription	Fetal Intestine Large	intestine
4	chr19:39256400-39260200	Weak transcription	A549	lung
5	chr19:39259400-39260000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:39259400-39260000	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr19:39259400-39260200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr19:39259800-39260000	Enhancers	GM12878-XiMat	blood
9	chr19:39259800-39260000	Enhancers	NHEK	skin
10	chr19:39259800-39260200	Enhancers	Primary B cells from peripheral blood	blood
11	chr19:39259800-39260200	Enhancers	Primary hematopoietic stem cells	blood
12	chr19:39259800-39260200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr19:39259800-39260200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr19:39259800-39260200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:39259800-39260400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr19:39259800-39260600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:39259800-39261000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:39259800-39261000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr19:39260000-39260200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr19:39260000-39260200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr19:39260000-39260200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr19:39260000-39260200	Enhancers	Primary B cells from cord blood	blood
23	chr19:39260000-39260200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr19:39260000-39260200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr19:39260000-39260200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:39260000-39260200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr19:39260000-39260200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr19:39260000-39260200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr19:39260000-39260200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:39260000-39260200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:39260000-39260200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:39260000-39260200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr19:39260000-39260200	Enhancers	Colonic Mucosa	Colon
34	chr19:39260000-39260200	Enhancers	Fetal Intestine Small	intestine
35	chr19:39260000-39260200	Enhancers	Fetal Muscle Trunk	muscle
36	chr19:39260000-39260200	Enhancers	Fetal Muscle Leg	muscle
37	chr19:39260000-39260200	Enhancers	Fetal Thymus	thymus
38	chr19:39260000-39260200	Enhancers	Left Ventricle	heart
39	chr19:39260000-39260200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr19:39260000-39260200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
41	chr19:39260000-39260200	Enhancers	Thymus	Thymus
42	chr19:39260000-39260200	Enhancers	HUVEC	blood vessel
43	chr19:39260000-39260200	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr19:39260000-39260400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr19:39260000-39260400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:39260000-39260400	Enhancers	Esophagus	oesophagus
47	chr19:39260000-39260400	Flanking Active TSS	GM12878-XiMat	blood
48	chr19:39260000-39260400	Flanking Active TSS	NHEK	skin
49	chr19:39260000-39260600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:39260000-39261000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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