Variant report

Variant	rs533524735
Chromosome Location	chr19:19008208-19008209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19008092-19009035	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19005501..19008972-chr19:19028688..19032169,4	K562	blood:
2	chr19:18990686..18992579-chr19:19006938..19009413,2	K562	blood:
3	chr19:19006401..19008657-chr19:19231143..19233883,2	K562	blood:

Variant related genes	Relation type
GDF1	TF binding region
CERS1	TF binding region
ENSG00000064545	Chromatin interaction
ENSG00000269694	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000105671	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv911301	chr19:18994638-19077385	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription 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	33 gene(s)	inside rSNPs	diseases
9	nsv911302	chr19:18995201-19088981	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	esv3340381	chr19:19005752-19008350	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv1823390	chr19:19006569-19017777	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr19:19004800-19008400	Active TSS	Brain Cingulate Gyrus	brain
2	chr19:19006400-19011000	Weak transcription	Fetal Lung	lung
3	chr19:19006600-19010000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:19006600-19010000	Weak transcription	Gastric	stomach
5	chr19:19006600-19016000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr19:19006600-19027800	Weak transcription	NHDF-Ad	bronchial
7	chr19:19006600-19029000	Weak transcription	Fetal Kidney	kidney
8	chr19:19006800-19008400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
9	chr19:19006800-19008800	Weak transcription	K562	blood
10	chr19:19006800-19009200	Weak transcription	Hela-S3	cervix
11	chr19:19006800-19009400	Weak transcription	HSMMtube	muscle
12	chr19:19006800-19010000	Weak transcription	Left Ventricle	heart
13	chr19:19006800-19011200	Weak transcription	Primary B cells from cord blood	blood
14	chr19:19006800-19017800	Weak transcription	HUVEC	blood vessel
15	chr19:19007000-19010000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:19007000-19010000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr19:19007000-19029000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr19:19007200-19008400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr19:19007200-19009200	Weak transcription	Psoas Muscle	Psoas
20	chr19:19007400-19008400	Weak transcription	HepG2	liver
21	chr19:19007400-19009200	Weak transcription	Right Ventricle	heart
22	chr19:19007400-19009600	Weak transcription	Liver	Liver
23	chr19:19007400-19025400	Weak transcription	NH-A	brain
24	chr19:19007400-19026000	Weak transcription	A549	lung
25	chr19:19007400-19027800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:19007600-19008400	Active TSS	Brain Hippocampus Middle	brain
27	chr19:19007600-19008400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr19:19007600-19008600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:19007600-19008600	Weak transcription	Fetal Intestine Small	intestine
30	chr19:19007600-19008800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr19:19007600-19009600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr19:19007600-19009600	Enhancers	Fetal Muscle Leg	muscle
33	chr19:19007600-19009600	Weak transcription	Lung	lung
34	chr19:19007600-19009600	Weak transcription	GM12878-XiMat	blood
35	chr19:19007600-19009800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr19:19007600-19009800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:19007600-19009800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr19:19007600-19009800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:19007600-19010000	Weak transcription	Pancreas	Pancrea
40	chr19:19007600-19010400	Weak transcription	Ovary	ovary
41	chr19:19007600-19010800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr19:19007600-19015400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr19:19007600-19017000	Weak transcription	Brain Angular Gyrus	brain
44	chr19:19007600-19018200	Weak transcription	HSMM	muscle
45	chr19:19007600-19018600	Weak transcription	HMEC	breast
46	chr19:19007600-19028600	Weak transcription	Right Atrium	heart
47	chr19:19007800-19009000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:19007800-19009200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:19007800-19009600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr19:19007800-19009800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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