Variant report

Variant	rs7257177
Chromosome Location	chr19:53587180-53587181
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	chr19:53585243..53587864-chr19:53592477..53594034,3	K562	blood:
2	chr19:53577559..53580401-chr19:53586109..53588069,3	K562	blood:

Variant related genes	Relation type
ENSG00000170949	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4277438	1.00[AMR][1000 genomes]
rs60052848	1.00[AMR][1000 genomes]
rs6509722	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7253305	1.00[AMR][1000 genomes]
rs73587496	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv2758506	chr19:53410459-53652575	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv2758769	chr19:53410459-53652575	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv428370	chr19:53410459-53652575	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53568400-53588600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:53570200-53587400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:53570600-53589600	ZNF genes & repeats	GM12878-XiMat	blood
4	chr19:53571000-53587200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
5	chr19:53573600-53604800	Weak transcription	Hela-S3	cervix
6	chr19:53574800-53599600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:53575600-53598600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:53575600-53601000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:53576800-53605200	Weak transcription	Stomach Mucosa	stomach
10	chr19:53577400-53587600	Weak transcription	Fetal Brain Male	brain
11	chr19:53577600-53587800	Weak transcription	NHLF	lung
12	chr19:53578200-53588600	Weak transcription	Fetal Kidney	kidney
13	chr19:53578400-53587400	Weak transcription	Brain Anterior Caudate	brain
14	chr19:53578400-53588000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr19:53578600-53587600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:53578800-53588000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:53578800-53593400	Weak transcription	HepG2	liver
18	chr19:53579000-53587400	Weak transcription	NHDF-Ad	bronchial
19	chr19:53580400-53588000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr19:53580600-53587800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr19:53580600-53588000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr19:53580600-53588800	Weak transcription	Colon Smooth Muscle	Colon
23	chr19:53580600-53589000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:53580600-53597800	Weak transcription	Fetal Heart	heart
25	chr19:53581000-53591200	Strong transcription	Fetal Intestine Large	intestine
26	chr19:53582400-53588000	Weak transcription	Brain Substantia Nigra	brain
27	chr19:53583800-53588200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr19:53583800-53589200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:53584000-53587800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr19:53584000-53599000	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr19:53584200-53587200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr19:53584200-53588000	Weak transcription	HMEC	breast
33	chr19:53584200-53588400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:53584200-53595000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr19:53584200-53595200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:53584400-53587600	Weak transcription	Small Intestine	intestine
37	chr19:53584400-53595200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:53584400-53596400	Strong transcription	Fetal Brain Female	brain
39	chr19:53584400-53598000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:53584600-53588200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:53584600-53589600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr19:53584600-53594600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr19:53584600-53595000	Strong transcription	Brain Cingulate Gyrus	brain
44	chr19:53584600-53599400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:53584600-53599800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:53584800-53595400	Strong transcription	Brain Germinal Matrix	brain
47	chr19:53585000-53588200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
48	chr19:53585000-53595200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr19:53585000-53597000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr19:53585200-53587200	Strong transcription	Adipose Nuclei	Adipose

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