Variant report

Variant	rs56255430
Chromosome Location	chr19:19477877-19477878
allele	A/C
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19477404..19478255-chr19:19599787..19600745,2	K562	blood:
2	chr19:19475560..19479223-chr19:19494515..19497733,3	K562	blood:
3	chr19:19475956..19479022-chr19:19487056..19489762,4	MCF-7	breast:
4	chr19:19477286..19479329-chr19:19514335..19517892,4	MCF-7	breast:
5	chr19:19464713..19466324-chr19:19477135..19479522,2	K562	blood:
6	chr19:19476462..19478976-chr19:19482373..19484505,3	K562	blood:
7	chr19:19475888..19481380-chr19:19598435..19602231,6	MCF-7	breast:
8	chr19:19477732..19478297-chr19:19517505..19518349,2	K562	blood:
9	chr19:19477369..19478572-chr19:19517483..19518545,4	MCF-7	breast:
10	chr19:19476063..19479194-chr19:19516845..19521061,4	K562	blood:
11	chr19:19476417..19478794-chr19:19498125..19500397,2	K562	blood:
12	chr19:19476043..19479075-chr19:19495694..19499474,5	MCF-7	breast:
13	chr19:19477423..19477935-chr19:19600929..19601794,2	MCF-7	breast:
14	chr19:19475761..19480142-chr19:19495038..19498469,6	MCF-7	breast:
15	chr19:19475560..19478131-chr19:19494515..19496869,2	K562	blood:
16	chr19:19477200..19478311-chr19:19600704..19601856,7	MCF-7	breast:
17	chr19:19469711..19473651-chr19:19475756..19478808,4	K562	blood:
18	chr19:19477386..19478234-chr19:19517375..19518109,3	MCF-7	breast:
19	chr19:19477390..19478315-chr19:19586432..19586933,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167491	Chromatin interaction
ENSG00000129933	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17216525	0.89[AMR][1000 genomes]
rs17216588	0.89[AMR][1000 genomes]
rs3794991	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58542926	0.81[AMR][1000 genomes]
rs73001065	0.89[EUR][1000 genomes]
rs73002956	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73004926	0.89[AMR][1000 genomes]
rs73004933	0.89[AMR][1000 genomes]
rs73004951	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19465200-19483600	Weak transcription	NH-A	brain
2	chr19:19468400-19478000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:19469400-19482000	Weak transcription	Esophagus	oesophagus
4	chr19:19469800-19488400	Weak transcription	Gastric	stomach
5	chr19:19475800-19488000	Weak transcription	Small Intestine	intestine
6	chr19:19476000-19478200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:19476000-19478200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:19476000-19481800	Weak transcription	NHEK	skin
9	chr19:19476200-19478200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr19:19476200-19478200	Enhancers	Placenta	Placenta
11	chr19:19476200-19482000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:19476200-19482000	Weak transcription	HUVEC	blood vessel
13	chr19:19476200-19483200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:19476200-19483600	Weak transcription	Fetal Intestine Large	intestine
15	chr19:19476200-19483600	Weak transcription	NHLF	lung
16	chr19:19476200-19483800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:19476200-19488200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr19:19476200-19488400	Weak transcription	Right Atrium	heart
19	chr19:19477000-19478000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr19:19477000-19478000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr19:19477000-19478000	Enhancers	Fetal Thymus	thymus
22	chr19:19477000-19478200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr19:19477200-19478000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr19:19477200-19478000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr19:19477400-19478000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr19:19477400-19478000	Enhancers	Primary B cells from peripheral blood	blood
27	chr19:19477400-19478000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:19477400-19478000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:19477400-19478000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr19:19477400-19478000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:19477400-19478000	Enhancers	Liver	Liver
32	chr19:19477400-19478000	Enhancers	Fetal Muscle Trunk	muscle
33	chr19:19477400-19478000	Enhancers	Lung	lung
34	chr19:19477400-19478000	Enhancers	Pancreas	Pancrea
35	chr19:19477400-19478000	Enhancers	Stomach Smooth Muscle	stomach
36	chr19:19477400-19478000	Enhancers	Thymus	Thymus
37	chr19:19477400-19478000	Enhancers	Dnd41	blood
38	chr19:19477400-19478000	Enhancers	GM12878-XiMat	blood
39	chr19:19477400-19478000	Active TSS	HepG2	liver
40	chr19:19477400-19478200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr19:19477400-19478800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr19:19477600-19478000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:19477600-19478000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr19:19477600-19478000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:19477600-19478000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:19477600-19478000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:19477600-19478000	Enhancers	Brain Angular Gyrus	brain
48	chr19:19477600-19478000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr19:19477600-19478000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:19477600-19478000	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links