Variant report

Variant	rs56813196
Chromosome Location	chr19:36288502-36288503
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36266545..36269722-chr19:36286322..36289805,3	K562	blood:

Variant related genes	Relation type
ENSG00000004777	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11546662	0.91[EUR][1000 genomes]
rs11546665	0.91[EUR][1000 genomes]
rs11881242	0.93[EUR][1000 genomes]
rs34562867	0.81[EUR][1000 genomes]
rs35297478	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3817622	0.82[EUR][1000 genomes]
rs3893069	0.82[EUR][1000 genomes]
rs4992668	0.82[EUR][1000 genomes]
rs55955981	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56237993	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58255615	0.82[EUR][1000 genomes]
rs73590591	0.81[EUR][1000 genomes]
rs73590598	0.82[EUR][1000 genomes]
rs73592416	0.82[EUR][1000 genomes]
rs73592448	0.91[EUR][1000 genomes]
rs73592461	0.91[EUR][1000 genomes]
rs73592484	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73594410	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv911636	chr19:36240960-36290977	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv911637	chr19:36261928-36309321	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	esv3446624	chr19:36282645-36318788	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36278400-36294400	Weak transcription	Spleen	Spleen
2	chr19:36283400-36303000	Weak transcription	Pancreas	Pancrea
3	chr19:36287600-36288800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:36287600-36288800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr19:36287600-36289000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr19:36287800-36288600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr19:36287800-36288600	Bivalent Enhancer	Fetal Brain Male	brain
8	chr19:36287800-36289000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
9	chr19:36287800-36289000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:36287800-36289000	Bivalent Enhancer	Placenta	Placenta
11	chr19:36288000-36288600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr19:36288000-36288600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:36288000-36288600	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr19:36288000-36288600	Enhancers	HepG2	liver
15	chr19:36288000-36288800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr19:36288000-36288800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr19:36288000-36288800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr19:36288000-36288800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:36288000-36288800	Active TSS	Brain Cingulate Gyrus	brain
20	chr19:36288000-36288800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr19:36288000-36289000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:36288000-36289000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr19:36288000-36289000	Active TSS	Brain Angular Gyrus	brain
24	chr19:36288200-36288600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr19:36288200-36288600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:36288200-36288600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
27	chr19:36288200-36288800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr19:36288200-36288800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:36288200-36288800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr19:36288200-36289000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
31	chr19:36288200-36289000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
32	chr19:36288200-36289000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:36288400-36288600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:36288400-36288600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:36288400-36288600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:36288400-36288600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:36288400-36288600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr19:36288400-36288800	Active TSS	H9 Cell Line	embryonic stem cell
39	chr19:36288400-36288800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr19:36288400-36288800	Active TSS	Fetal Brain Female	brain
41	chr19:36288400-36289000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:36288400-36289000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:36288400-36289000	Bivalent Enhancer	Fetal Stomach	stomach
44	chr19:36288400-36289200	Bivalent/Poised TSS	Brain Germinal Matrix	brain

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