Variant report

Variant	rs11085241
Chromosome Location	chr19:18828546-18828547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10423674	0.81[ASN][1000 genomes]
rs11085240	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11668545	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668587	0.81[ASN][1000 genomes]
rs11880800	0.91[EUR][1000 genomes]
rs12460629	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12462498	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003475	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2023878	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240012	0.83[EUR][1000 genomes]
rs34482977	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60021783	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs757317	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8113096	0.87[AMR][1000 genomes];0.82[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	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv960927	chr19:18808010-18837082	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18812000-18844200	Weak transcription	Fetal Kidney	kidney
2	chr19:18818000-18836600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr19:18819000-18844000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr19:18820400-18833000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr19:18820400-18837000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr19:18820400-18847200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr19:18820600-18846600	Weak transcription	Esophagus	oesophagus
8	chr19:18820800-18832800	Weak transcription	HSMM	muscle
9	chr19:18821200-18828600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr19:18821200-18829000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:18821200-18833000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr19:18821200-18834400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:18821200-18844000	Weak transcription	Colonic Mucosa	Colon
14	chr19:18821200-18860600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:18821200-18861000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr19:18821200-18864800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr19:18822000-18833000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:18822200-18830600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:18822400-18833400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:18822400-18835600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:18822600-18830000	Weak transcription	Fetal Intestine Large	intestine
22	chr19:18822600-18836400	Weak transcription	Adipose Nuclei	Adipose
23	chr19:18822600-18843800	Weak transcription	Colon Smooth Muscle	Colon
24	chr19:18822600-18844000	Weak transcription	NHLF	lung
25	chr19:18822800-18836800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:18824200-18846600	Weak transcription	Pancreas	Pancrea
27	chr19:18824400-18829000	Weak transcription	Brain Anterior Caudate	brain
28	chr19:18824400-18829400	Weak transcription	Brain Angular Gyrus	brain
29	chr19:18824400-18829800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr19:18824400-18833000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:18824600-18840600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:18824600-18843000	Weak transcription	Fetal Lung	lung
33	chr19:18824600-18847800	Weak transcription	Liver	Liver
34	chr19:18824800-18828800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr19:18824800-18829200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr19:18825000-18830200	Weak transcription	Fetal Brain Male	brain
37	chr19:18825000-18834600	Weak transcription	Fetal Brain Female	brain
38	chr19:18825000-18844000	Weak transcription	Right Atrium	heart
39	chr19:18825000-18845600	Weak transcription	Primary B cells from cord blood	blood
40	chr19:18825200-18828600	Weak transcription	Left Ventricle	heart
41	chr19:18825800-18833200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr19:18826400-18840800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr19:18826600-18836200	Weak transcription	Ovary	ovary
44	chr19:18826800-18828800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:18826800-18831600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr19:18826800-18833200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:18826800-18835000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr19:18827000-18829000	Weak transcription	Fetal Intestine Small	intestine
49	chr19:18827000-18832600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:18827000-18832800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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