Variant report

Variant	rs8106956
Chromosome Location	chr19:53660502-53660503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53652920..53654746-chr19:53660355..53662254,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10409924	0.81[ASN][1000 genomes]
rs10412268	0.81[ASN][1000 genomes]
rs10417172	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs62115532	0.81[ASN][1000 genomes]
rs8101710	0.81[ASN][1000 genomes]
rs8107811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530807	chr19:53210488-53695881	Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3326632	chr19:53371248-53697569	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS 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 miRNA target site	282 gene(s)	inside rSNPs	diseases
9	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv912350	chr19:53636016-53687818	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv960866	chr19:53652539-53662610	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv912351	chr19:53655493-53702508	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53640000-53660600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:53645800-53660800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:53649000-53660800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:53651800-53660800	Weak transcription	Fetal Heart	heart
5	chr19:53652200-53661000	Weak transcription	HSMMtube	muscle
6	chr19:53652600-53660600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:53653000-53660600	Weak transcription	Colon Smooth Muscle	Colon
8	chr19:53653600-53660600	Weak transcription	Psoas Muscle	Psoas
9	chr19:53653600-53660800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:53653600-53661000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:53654000-53660600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr19:53654000-53660600	Weak transcription	NHDF-Ad	bronchial
13	chr19:53654000-53660800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:53654000-53660800	Weak transcription	Placenta	Placenta
15	chr19:53654200-53660800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:53654200-53660800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr19:53654200-53661000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr19:53654600-53660600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:53654600-53660800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:53655200-53660600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:53655800-53660600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr19:53656200-53660800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:53656200-53661000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr19:53656800-53660800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
25	chr19:53657000-53660600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr19:53657200-53660600	Weak transcription	Fetal Muscle Leg	muscle
27	chr19:53657400-53660600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr19:53657400-53660800	Weak transcription	Brain Angular Gyrus	brain
29	chr19:53657600-53660800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:53657600-53661200	Weak transcription	Small Intestine	intestine
31	chr19:53657800-53660600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:53657800-53660800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:53657800-53660800	Weak transcription	Pancreas	Pancrea
34	chr19:53658000-53660800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:53658400-53661200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:53658800-53660600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
37	chr19:53658800-53660800	Weak transcription	Esophagus	oesophagus
38	chr19:53658800-53660800	Weak transcription	Ovary	ovary
39	chr19:53659000-53660600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:53659000-53660600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr19:53659000-53660800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr19:53659200-53660600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr19:53659200-53660600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:53659200-53660600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:53659200-53660600	Weak transcription	Fetal Intestine Large	intestine
46	chr19:53659200-53660800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr19:53659200-53660800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr19:53659200-53660800	Weak transcription	Spleen	Spleen
49	chr19:53659200-53661000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:53659400-53660600	Weak transcription	HSMM	muscle

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