Variant report

Variant	rs540053732
Chromosome Location	chr19:56916039-56916040
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	chr19:56902006..56908060-chr19:56909612..56917978,15	K562	blood:
2	chr19:56902257..56906485-chr19:56913118..56917978,7	K562	blood:

Variant related genes	Relation type
ENSG00000266631	Chromatin interaction
ENSG00000018869	Chromatin interaction
ENSG00000267454	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
2	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv544096	chr19:56905651-56933455	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv3373403	chr19:56913940-56918638	Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3389334	chr19:56914840-56917838	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr19:56914200-56916200	Active TSS	Muscle Satellite Cultured Cells	--
2	chr19:56914400-56916200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:56914400-56916400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:56914400-56916800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr19:56914600-56916200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr19:56914600-56916200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr19:56914600-56916200	Active TSS	Fetal Intestine Large	intestine
8	chr19:56914600-56916400	Active TSS	Psoas Muscle	Psoas
9	chr19:56914600-56916800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr19:56914600-56916800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:56914600-56917600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:56914800-56916200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:56914800-56916200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:56914800-56916200	Active TSS	Fetal Intestine Small	intestine
15	chr19:56914800-56916200	Active TSS	Stomach Mucosa	stomach
16	chr19:56915000-56916200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:56915000-56916200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:56915000-56916400	Active TSS	Fetal Muscle Trunk	muscle
19	chr19:56915200-56916200	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr19:56915400-56916400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
21	chr19:56915800-56916200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr19:56915800-56916200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr19:56915800-56916200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:56915800-56916200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:56915800-56916200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr19:56915800-56916200	Transcr. at gene 5' and 3'	Thymus	Thymus
27	chr19:56915800-56916400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:56915800-56916400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
29	chr19:56915800-56916400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:56915800-56916400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr19:56915800-56916400	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr19:56915800-56916400	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr19:56915800-56916400	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr19:56915800-56916400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr19:56915800-56916400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr19:56915800-56916400	Flanking Active TSS	Liver	Liver
37	chr19:56915800-56916400	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr19:56915800-56916400	Flanking Active TSS	Placenta	Placenta
39	chr19:56915800-56916400	Flanking Active TSS	Fetal Thymus	thymus
40	chr19:56915800-56916400	Transcr. at gene 5' and 3'	Pancreas	Pancrea
41	chr19:56915800-56916400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr19:56915800-56916400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr19:56915800-56916400	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr19:56915800-56916400	Flanking Active TSS	HMEC	breast
45	chr19:56915800-56916400	Flanking Active TSS	HUVEC	blood vessel
46	chr19:56915800-56916600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:56915800-56916600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:56915800-56916600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr19:56915800-56916600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr19:56915800-56916600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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