Variant report

Variant	rs543777552
Chromosome Location	chr19:38885634-38885635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:38871440-38886227	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr19:38884992-38885648	H1-hESC	embryonic stem cell:	n/a	n/a
3	TBP	chr19:38885159-38885679	H1-hESC	embryonic stem cell:	n/a	n/a
4	TAF1	chr19:38885314-38885722	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:38885042-38885865	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:38883299-38886167	PFSK-1	brain:	n/a	n/a
7	YY1	chr19:38885135-38885650	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38864094..38865598-chr19:38884345..38886575,2	K562	blood:
2	chr19:38881527..38884112-chr19:38884478..38886116,2	K562	blood:
3	chr19:38724585..38727174-chr19:38883492..38886224,2	K562	blood:
4	chr19:38877412..38880246-chr19:38884643..38887201,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267473	TF binding region
ENSG00000099341	Chromatin interaction
ENSG00000188766	Chromatin interaction
ENSG00000179168	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1064275	chr19:38859865-38913251	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv911661	chr19:38872335-38894829	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv911662	chr19:38872634-38895809	Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1803709	chr19:38874828-38900078	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	esv3425239	chr19:38885137-38887985	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38880000-38886400	Weak transcription	Gastric	stomach
2	chr19:38880200-38887600	Weak transcription	Right Atrium	heart
3	chr19:38880800-38889200	Weak transcription	Brain Angular Gyrus	brain
4	chr19:38881000-38887000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:38881000-38887600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:38881000-38893200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:38881000-38893200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr19:38881000-38893200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr19:38881000-38893200	Weak transcription	HSMMtube	muscle
10	chr19:38881200-38887200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:38881600-38886200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:38882600-38888000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:38882800-38887400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr19:38883000-38888000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:38883200-38887800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:38883600-38891600	Weak transcription	HUVEC	blood vessel
17	chr19:38883600-38893400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:38883800-38886800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:38883800-38887200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:38883800-38887600	Strong transcription	NHLF	lung
21	chr19:38883800-38887800	Strong transcription	Osteobl	bone
22	chr19:38883800-38888400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:38884000-38885800	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr19:38884000-38886400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:38884000-38891600	Weak transcription	A549	lung
26	chr19:38884600-38886200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:38884600-38887200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:38884800-38886200	Enhancers	Esophagus	oesophagus
29	chr19:38884800-38886200	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr19:38884800-38886600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:38884800-38893200	Weak transcription	NH-A	brain
32	chr19:38885000-38885800	Bivalent Enhancer	Fetal Thymus	thymus
33	chr19:38885000-38886400	Weak transcription	Brain Anterior Caudate	brain
34	chr19:38885000-38887200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr19:38885200-38885800	Bivalent Enhancer	Primary B cells from cord blood	blood
36	chr19:38885200-38885800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
37	chr19:38885200-38885800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:38885200-38885800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:38885200-38885800	Bivalent Enhancer	Fetal Stomach	stomach
40	chr19:38885200-38886000	Bivalent Enhancer	Fetal Brain Female	brain
41	chr19:38885200-38886000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
42	chr19:38885200-38886000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr19:38885200-38886000	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr19:38885200-38886200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr19:38885200-38886200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:38885200-38886200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:38885200-38886400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr19:38885200-38887000	Bivalent/Poised TSS	Thymus	Thymus
49	chr19:38885200-38893200	Weak transcription	HSMM	muscle
50	chr19:38885400-38885800	Active TSS	H9 Cell Line	embryonic stem cell

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