Variant report

Variant	rs56007657
Chromosome Location	chr19:19316338-19316339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19315607-19316458	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19316331..19318362-chr19:19376972..19379894,2	K562	blood:
2	chr19:19314470..19317395-chr19:19326072..19330743,5	K562	blood:
3	chr19:19312779..19319489-chr19:19322201..19327588,8	K562	blood:
4	chr19:19316312..19318811-chr19:19331949..19335796,3	K562	blood:
5	chr19:19299448..19305567-chr19:19306959..19319217,21	K562	blood:
6	chr19:19300744..19305499-chr19:19311426..19319217,10	K562	blood:

No data

Variant related genes	Relation type
NR2C2AP	TF binding region
ENSG00000213996	Chromatin interaction
ENSG00000213999	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000130287	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000064490	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10401713	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10403193	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10409380	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10409894	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10412238	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10424365	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1050483	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12459735	0.86[ASN][1000 genomes]
rs2238672	0.90[ASN][1000 genomes]
rs2283626	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28618105	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4808187	0.86[ASN][1000 genomes]
rs7250569	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73537466	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8102111	0.83[ASN][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	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19314200-19317800	Weak transcription	Gastric	stomach
2	chr19:19314400-19316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:19314400-19317400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:19314400-19317600	Weak transcription	Spleen	Spleen
5	chr19:19314400-19317800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:19314600-19316400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr19:19314600-19316800	Weak transcription	Brain Substantia Nigra	brain
8	chr19:19314600-19317200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr19:19314600-19317800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:19314600-19317800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:19314600-19318000	Weak transcription	Esophagus	oesophagus
12	chr19:19314600-19318200	Weak transcription	Hela-S3	cervix
13	chr19:19314600-19318600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:19314600-19320600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:19314600-19322400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr19:19314800-19316400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr19:19314800-19316400	Weak transcription	Brain Hippocampus Middle	brain
18	chr19:19314800-19317200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr19:19314800-19317200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr19:19314800-19317800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr19:19314800-19318000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr19:19314800-19319000	Weak transcription	Brain Germinal Matrix	brain
23	chr19:19314800-19322200	Weak transcription	Fetal Brain Female	brain
24	chr19:19315000-19317600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr19:19315000-19317600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:19315000-19317800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr19:19315200-19316800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr19:19315200-19317400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr19:19315400-19316600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:19316000-19316600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr19:19316000-19316800	Weak transcription	Brain Anterior Caudate	brain
32	chr19:19316000-19317000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:19316000-19317600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr19:19316000-19317800	Weak transcription	GM12878-XiMat	blood
35	chr19:19316200-19317200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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