Variant report

Variant	rs4802907
Chromosome Location	chr19:52736297-52736298
allele	A/G
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	chr19:52736165-52736745	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:52736076-52736885	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52714640..52717140-chr19:52734016..52736347,2	K562	blood:

Variant related genes	Relation type
ENSG00000268015	TF binding region
ENSG00000105568	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4802905	0.87[EUR][1000 genomes]
rs4802906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802908	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv962989	chr19:52732337-52742183	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52727600-52737800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:52730200-52737800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr19:52730800-52741000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:52731000-52736800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr19:52731000-52736800	Weak transcription	Stomach Mucosa	stomach
6	chr19:52731600-52736400	Weak transcription	Fetal Heart	heart
7	chr19:52731600-52738000	Weak transcription	Fetal Brain Male	brain
8	chr19:52731600-52741000	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:52731800-52736600	Weak transcription	HUVEC	blood vessel
10	chr19:52732000-52736600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr19:52732000-52740600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr19:52732000-52740800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:52732200-52736400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:52732200-52741000	Weak transcription	Dnd41	blood
15	chr19:52732200-52741200	Weak transcription	Fetal Lung	lung
16	chr19:52732400-52736400	Weak transcription	Adipose Nuclei	Adipose
17	chr19:52732400-52737800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:52732400-52737800	Weak transcription	HepG2	liver
19	chr19:52732400-52740200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr19:52732400-52740600	Weak transcription	Brain Angular Gyrus	brain
21	chr19:52732400-52741000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr19:52732400-52741200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr19:52732600-52736400	Weak transcription	Fetal Brain Female	brain
24	chr19:52732600-52736800	Weak transcription	Primary T cells from cord blood	blood
25	chr19:52733000-52736600	Weak transcription	Fetal Intestine Large	intestine
26	chr19:52733000-52736600	Weak transcription	HSMM	muscle
27	chr19:52733000-52736800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:52733000-52737000	Weak transcription	Placenta	Placenta
29	chr19:52733000-52737400	Weak transcription	Colonic Mucosa	Colon
30	chr19:52733200-52736400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:52733200-52736600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr19:52733200-52742800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:52733200-52759600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:52733400-52741200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr19:52734200-52741000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:52734400-52751600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr19:52734600-52740800	Weak transcription	Fetal Stomach	stomach
38	chr19:52734600-52743800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr19:52734800-52736400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:52734800-52737000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr19:52735000-52740400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:52735200-52736400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr19:52735200-52737000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr19:52735200-52738800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr19:52735200-52740600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:52735200-52741200	Weak transcription	Fetal Muscle Leg	muscle
47	chr19:52735400-52737200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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