Variant report

Variant	rs1963413
Chromosome Location	chr19:41871573-41871574
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41858281..41860213-chr19:41869974..41872050,2	MCF-7	breast:
2	chr19:41856910..41863042-chr19:41867113..41873191,18	MCF-7	breast:
3	chr19:41870450..41872597-chr19:41951300..41953868,2	K562	blood:
4	chr19:41858489..41863412-chr19:41867730..41871601,11	K562	blood:
5	chr19:41868161..41871707-chr19:41902716..41905358,4	MCF-7	breast:
6	chr19:41824554..41827469-chr19:41868894..41871689,2	K562	blood:
7	chr19:41868160..41871597-chr19:41899998..41904284,10	K562	blood:
8	chr19:41869853..41871782-chr19:41881681..41884054,2	K562	blood:
9	chr19:41816143..41817649-chr19:41870161..41871689,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248098	Chromatin interaction
ENSG00000077348	Chromatin interaction
ENSG00000255730	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000142039	Chromatin interaction
ENSG00000268987	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1025497	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11083616	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11083617	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11666933	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11670143	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11670739	0.83[AMR][1000 genomes]
rs12462166	0.94[ASN][1000 genomes]
rs12983775	0.90[ASN][1000 genomes]
rs1549933	0.99[ASN][1000 genomes]
rs1800469	0.94[ASN][1000 genomes]
rs1800470	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1982072	0.96[ASN][1000 genomes]
rs2241712	0.97[ASN][1000 genomes]
rs2241713	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2241714	0.97[ASN][1000 genomes]
rs2241715	0.94[ASN][1000 genomes]
rs2317130	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34503210	0.81[AMR][1000 genomes]
rs4803457	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4803458	0.88[ASN][1000 genomes]
rs4803459	0.88[ASN][1000 genomes]
rs7260340	0.83[AMR][1000 genomes]
rs8108357	0.81[AMR][1000 genomes]
rs9797885	0.98[ASN][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	nsv521311	chr19:41856886-41882712	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41870200-41871800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr19:41870600-41882000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:41870800-41874000	Weak transcription	Esophagus	oesophagus
4	chr19:41870800-41874000	Weak transcription	Small Intestine	intestine
5	chr19:41870800-41882000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:41871000-41871600	Enhancers	HepG2	liver
7	chr19:41871000-41872200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:41871000-41872200	Weak transcription	Hela-S3	cervix
9	chr19:41871000-41872400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:41871000-41872400	Genic enhancers	Fetal Intestine Small	intestine
11	chr19:41871000-41872400	Enhancers	Fetal Muscle Leg	muscle
12	chr19:41871000-41872400	Weak transcription	Placenta	Placenta
13	chr19:41871000-41872600	Enhancers	Fetal Thymus	thymus
14	chr19:41871000-41872800	Weak transcription	HMEC	breast
15	chr19:41871000-41872800	Weak transcription	NHLF	lung
16	chr19:41871000-41873000	Weak transcription	Osteobl	bone
17	chr19:41871000-41873400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:41871000-41873400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr19:41871000-41873600	Weak transcription	Stomach Mucosa	stomach
20	chr19:41871000-41873600	Weak transcription	HSMM	muscle
21	chr19:41871000-41873600	Weak transcription	NH-A	brain
22	chr19:41871000-41873800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr19:41871000-41874000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr19:41871000-41876600	Weak transcription	Fetal Kidney	kidney
25	chr19:41871000-41879800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr19:41871000-41879800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr19:41871000-41880000	Weak transcription	HSMMtube	muscle
28	chr19:41871000-41881800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr19:41871000-41882000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:41871000-41882000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:41871000-41882000	Weak transcription	Primary T cells from cord blood	blood
32	chr19:41871200-41871600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:41871200-41871600	Enhancers	Adipose Nuclei	Adipose
34	chr19:41871200-41871600	Enhancers	A549	lung
35	chr19:41871200-41872200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:41871200-41872200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:41871200-41872200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:41871200-41872200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:41871200-41872200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr19:41871200-41872200	Weak transcription	Fetal Intestine Large	intestine
41	chr19:41871200-41872200	Weak transcription	Fetal Stomach	stomach
42	chr19:41871200-41872200	Weak transcription	Lung	lung
43	chr19:41871200-41872200	Weak transcription	GM12878-XiMat	blood
44	chr19:41871200-41872200	Weak transcription	HUVEC	blood vessel
45	chr19:41871200-41873000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:41871200-41873000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:41871200-41873000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:41871200-41873000	Weak transcription	NHDF-Ad	bronchial
49	chr19:41871200-41873200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:41871200-41873200	Weak transcription	Spleen	Spleen

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