Variant report

Variant	rs4803056
Chromosome Location	chr19:53686941-53686942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:53686910..53689224-chr19:53694726..53696698,2	K562	blood:
2	chr19:53685574..53688103-chr19:53699507..53701678,2	K562	blood:
3	chr19:53685672..53687787-chr19:53698865..53701833,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197497	Chromatin interaction
ENSG00000269051	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4614848	1.00[CEU][hapmap]
rs4640295	0.82[CHB][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
13	esv2762999	chr19:53665818-53709353	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1065473	chr19:53680455-53709341	Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv2830362	chr19:53681132-53933147	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription 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	22 gene(s)	inside rSNPs	diseases
16	nsv458761	chr19:53682042-53705554	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv458763	chr19:53682042-53705554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv458764	chr19:53682042-53705554	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv458765	chr19:53682042-53705554	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv458766	chr19:53682042-53705554	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv580078	chr19:53682042-53705554	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv1060349	chr19:53682042-53709341	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53664800-53695400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:53669400-53695600	Weak transcription	Brain Germinal Matrix	brain
3	chr19:53670000-53695400	Weak transcription	Right Ventricle	heart
4	chr19:53670200-53695200	Weak transcription	Fetal Brain Female	brain
5	chr19:53673600-53688200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:53674000-53695400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr19:53674000-53695600	Weak transcription	Brain Angular Gyrus	brain
8	chr19:53674000-53695600	Weak transcription	Brain Anterior Caudate	brain
9	chr19:53674200-53693600	Weak transcription	Brain Hippocampus Middle	brain
10	chr19:53674200-53693600	Weak transcription	Fetal Muscle Leg	muscle
11	chr19:53676600-53693600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr19:53677600-53695600	Weak transcription	Fetal Lung	lung
13	chr19:53678800-53695800	Weak transcription	Aorta	Aorta
14	chr19:53680200-53695400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:53680600-53695600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr19:53681000-53695600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr19:53681200-53695400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr19:53681400-53693400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:53681400-53695600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr19:53682000-53693600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr19:53682400-53695400	Weak transcription	NHDF-Ad	bronchial
22	chr19:53682600-53687800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:53682800-53687200	Strong transcription	Dnd41	blood
24	chr19:53682800-53687400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr19:53682800-53688000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr19:53682800-53695600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:53683200-53693400	Weak transcription	Pancreas	Pancrea
28	chr19:53683200-53695400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:53683200-53695400	Weak transcription	Gastric	stomach
30	chr19:53683200-53695400	Weak transcription	Spleen	Spleen
31	chr19:53683200-53695600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr19:53683200-53695600	Weak transcription	NHLF	lung
33	chr19:53683400-53695800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr19:53683600-53695600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr19:53683600-53695600	Weak transcription	Left Ventricle	heart
36	chr19:53683800-53692200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr19:53684000-53693600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:53684400-53687200	Strong transcription	Adipose Nuclei	Adipose
39	chr19:53684400-53687800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:53684400-53695400	Weak transcription	Stomach Mucosa	stomach
41	chr19:53684800-53687000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
42	chr19:53685000-53688000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr19:53685000-53693600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:53685000-53695800	Weak transcription	Psoas Muscle	Psoas
45	chr19:53685200-53688000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:53685200-53693400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr19:53685400-53687200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:53685400-53687600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:53685400-53693600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr19:53685800-53687200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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