Variant report

Variant	rs56350931
Chromosome Location	chr19:55624429-55624430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:55589341..55594280-chr19:55623400..55630615,14	K562	blood:
2	chr19:55623549..55625871-chr19:55627412..55630421,4	K562	blood:
3	chr19:55618775..55620920-chr19:55622936..55624768,2	K562	blood:
4	chr19:55619270..55624859-chr19:55625800..55630759,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125503	Chromatin interaction
ENSG00000131037	Chromatin interaction

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

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

rs_ID	r²[population]
rs10401227	0.86[EUR][1000 genomes]
rs1151617	0.81[EUR][1000 genomes]
rs12982674	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12982699	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2109067	0.82[ASN][1000 genomes]
rs34374641	0.86[EUR][1000 genomes]
rs66707428	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7253188	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7259963	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534462	chr19:55028722-55683018	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv912449	chr19:55595687-55630425	Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv912450	chr19:55595687-55633043	Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription 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	30 gene(s)	inside rSNPs	diseases
4	nsv912452	chr19:55595687-55644325	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv912451	chr19:55595687-55680746	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1055961	chr19:55613727-55644076	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
7	esv1799218	chr19:55617408-55641955	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1060034	chr19:55622592-55650097	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
9	esv1850769	chr19:55622909-55641955	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55599200-55626600	Weak transcription	Fetal Kidney	kidney
2	chr19:55599200-55627200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:55599800-55626000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:55600000-55626600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:55600000-55627000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr19:55601400-55626400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:55602800-55626400	Weak transcription	Hela-S3	cervix
8	chr19:55606600-55627200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:55612400-55626200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:55614800-55626800	Weak transcription	Primary B cells from cord blood	blood
11	chr19:55615000-55625600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:55615000-55627200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr19:55615000-55627400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:55615200-55624600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:55615200-55624600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr19:55615200-55625000	Weak transcription	HSMM	muscle
17	chr19:55615200-55626600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr19:55615200-55627200	Weak transcription	HSMMtube	muscle
19	chr19:55619600-55624600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr19:55619600-55624600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:55619800-55624800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr19:55619800-55625000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:55620000-55624800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr19:55620200-55624800	Strong transcription	Thymus	Thymus
25	chr19:55620200-55625000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr19:55620200-55625000	Strong transcription	Fetal Brain Female	brain
27	chr19:55620400-55624600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:55620400-55624600	Strong transcription	Brain Germinal Matrix	brain
29	chr19:55620400-55624800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr19:55620400-55625000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr19:55620400-55625000	Strong transcription	NHEK	skin
32	chr19:55620800-55624600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr19:55621200-55624600	Weak transcription	Fetal Lung	lung
34	chr19:55621400-55626400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:55621600-55625800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:55621600-55627000	Weak transcription	Osteobl	bone
37	chr19:55621800-55624600	Weak transcription	Pancreas	Pancrea
38	chr19:55621800-55625000	Weak transcription	HepG2	liver
39	chr19:55621800-55626600	Weak transcription	HMEC	breast
40	chr19:55621800-55627200	Weak transcription	Aorta	Aorta
41	chr19:55622200-55627000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr19:55622400-55624600	Weak transcription	HUVEC	blood vessel
43	chr19:55622600-55624600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr19:55622600-55624800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:55622800-55624600	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr19:55623000-55624800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:55623000-55625200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:55623000-55626200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:55623000-55626200	Genic enhancers	Lung	lung
50	chr19:55623000-55627200	Enhancers	Right Atrium	heart

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