Variant report

Variant	rs10416493
Chromosome Location	chr19:44713221-44713222
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44711494..44713254-chr19:45003869..45006588,2	MCF-7	breast:
2	chr19:44709921..44713618-chr19:44714834..44717350,4	K562	blood:
3	chr19:44710790..44713844-chr19:44714955..44718823,7	MCF-7	breast:
4	chr19:44711481..44713542-chr19:44808275..44810056,2	K562	blood:

Variant related genes	Relation type
ENSG00000159917	Chromatin interaction
ENSG00000167384	Chromatin interaction
ENSG00000131115	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10401758	1.00[CEU][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10405091	0.89[EUR][1000 genomes]
rs10406980	1.00[CEU][hapmap]
rs10409423	1.00[EUR][1000 genomes]
rs10409643	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10409954	1.00[CEU][hapmap]
rs10410532	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10411499	0.89[EUR][1000 genomes]
rs10415196	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10415563	1.00[CEU][hapmap]
rs10418460	1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs10422609	1.00[CEU][hapmap]
rs10424371	1.00[CEU][hapmap]
rs11881753	0.89[EUR][1000 genomes]
rs12104331	0.89[EUR][1000 genomes]
rs12104332	0.89[EUR][1000 genomes]
rs1584	1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs16959114	1.00[CEU][hapmap]
rs16978665	1.00[CEU][hapmap]
rs16978910	1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs16978912	0.89[EUR][1000 genomes]
rs16978921	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2232803	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs28485815	0.89[EUR][1000 genomes]
rs28671410	1.00[EUR][1000 genomes]
rs4803685	1.00[CEU][hapmap]
rs4803686	1.00[CEU][hapmap]
rs4803688	1.00[CEU][hapmap]
rs57176078	0.89[EUR][1000 genomes]
rs57706678	0.89[EUR][1000 genomes]
rs58216091	0.89[EUR][1000 genomes]
rs6509147	1.00[CEU][hapmap]
rs7250439	1.00[CEU][hapmap]
rs7253796	1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7255445	1.00[EUR][1000 genomes]
rs7257833	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73567997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73934602	0.89[EUR][1000 genomes]
rs73937513	0.89[EUR][1000 genomes]
rs8111388	1.00[CEU][hapmap]
rs922063	1.00[CEU][hapmap]
rs9749373	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44710400-44713400	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr19:44712200-44716000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr19:44712200-44716000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:44712200-44716000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr19:44712200-44716000	Weak transcription	Left Ventricle	heart
6	chr19:44712200-44716200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:44712200-44716200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr19:44712200-44716200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:44712200-44716200	Weak transcription	Brain Substantia Nigra	brain
10	chr19:44712200-44716600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:44712400-44715800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:44712400-44716000	Weak transcription	Brain Hippocampus Middle	brain
13	chr19:44712400-44716200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr19:44712400-44716200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr19:44712400-44716200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr19:44712400-44716200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr19:44712400-44716200	Weak transcription	Fetal Brain Female	brain
18	chr19:44712400-44716200	Weak transcription	HUVEC	blood vessel
19	chr19:44712600-44716000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:44712600-44716000	Weak transcription	Fetal Intestine Large	intestine
21	chr19:44712600-44716000	Weak transcription	Fetal Intestine Small	intestine
22	chr19:44712600-44716200	Weak transcription	Brain Germinal Matrix	brain
23	chr19:44712600-44716200	Weak transcription	NHEK	skin
24	chr19:44712800-44715800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:44712800-44716000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:44712800-44716000	Weak transcription	Fetal Brain Male	brain
27	chr19:44712800-44716200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:44712800-44716200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr19:44712800-44716200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:44712800-44716200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr19:44712800-44716200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:44712800-44716200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:44712800-44716200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:44712800-44716200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr19:44712800-44716200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr19:44712800-44716200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr19:44712800-44716200	Weak transcription	Hela-S3	cervix
38	chr19:44712800-44716200	Weak transcription	Osteobl	bone
39	chr19:44712800-44716400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr19:44713000-44713400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:44713000-44716000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:44713000-44716200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr19:44713000-44716200	Weak transcription	Primary T cells from cord blood	blood
44	chr19:44713000-44716200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:44713000-44716200	Weak transcription	Fetal Lung	lung
46	chr19:44713000-44716200	Weak transcription	NHDF-Ad	bronchial
47	chr19:44713000-44716800	Weak transcription	Fetal Heart	heart
48	chr19:44713200-44714000	Weak transcription	Liver	Liver
49	chr19:44713200-44715600	Weak transcription	Dnd41	blood
50	chr19:44713200-44716000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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