Variant report

Variant	rs4808873
Chromosome Location	chr19:19011774-19011775
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19011367-19012515	K562	blood:	n/a	n/a
2	POLR2A	chr19:19011203-19012558	HL-60	blood:	n/a	n/a
3	POLR2A	chr19:19011479-19011939	GM12891	blood:	n/a	n/a
4	POLR2A	chr19:19010749-19012328	GM12892	blood:	n/a	n/a
5	POLR2A	chr19:19011556-19011850	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr19:19011709-19012360	K562	blood:	n/a	n/a
7	POLR2A	chr19:19010643-19012213	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr19:19011106-19011819	GM12891	blood:	n/a	n/a
9	POLR2A	chr19:19011760-19011925	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:19010509-19012520	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:19011497-19011943	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:19011146-19011786	GM12892	blood:	n/a	n/a
13	POLR2A	chr19:19008935-19012494	HepG2	liver:	n/a	n/a
14	POLR2A	chr19:19011554-19012398	GM12891	blood:	n/a	n/a
15	POLR2A	chr19:19008876-19012538	K562	blood:	n/a	n/a
16	POLR2A	chr19:19011552-19011995	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18993425..18995899-chr19:19009767..19011976,2	K562	blood:
2	chr19:19010164..19011980-chr19:19023732..19025454,3	MCF-7	breast:
3	chr19:19010579..19012422-chr19:19029682..19031277,2	K562	blood:

No data

Variant related genes	Relation type
COPE	TF binding region
GDF1	TF binding region
CERS1	TF binding region
ENSG00000105671	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000223802	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1468460	0.84[ASN][1000 genomes]
rs1468461	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2074798	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs886853	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	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
11	nsv817819	chr19:19009470-19022204	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19006600-19016000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr19:19006600-19027800	Weak transcription	NHDF-Ad	bronchial
3	chr19:19006600-19029000	Weak transcription	Fetal Kidney	kidney
4	chr19:19006800-19017800	Weak transcription	HUVEC	blood vessel
5	chr19:19007000-19029000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:19007400-19025400	Weak transcription	NH-A	brain
7	chr19:19007400-19026000	Weak transcription	A549	lung
8	chr19:19007400-19027800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:19007600-19015400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:19007600-19017000	Weak transcription	Brain Angular Gyrus	brain
11	chr19:19007600-19018200	Weak transcription	HSMM	muscle
12	chr19:19007600-19018600	Weak transcription	HMEC	breast
13	chr19:19007600-19028600	Weak transcription	Right Atrium	heart
14	chr19:19008000-19012400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:19008200-19016000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr19:19008200-19026000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:19008400-19012000	Strong transcription	Fetal Stomach	stomach
18	chr19:19008400-19014000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr19:19008400-19014400	Weak transcription	NHEK	skin
20	chr19:19008400-19017400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr19:19008400-19018600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:19008600-19012200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr19:19008600-19014000	Weak transcription	Small Intestine	intestine
24	chr19:19008600-19015200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr19:19008800-19024200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:19009200-19012400	Strong transcription	Right Ventricle	heart
27	chr19:19009200-19012600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:19009200-19026800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr19:19009400-19012800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr19:19009400-19012800	Strong transcription	Brain Germinal Matrix	brain
31	chr19:19009400-19015400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:19009400-19024000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:19009400-19027200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:19009600-19012200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr19:19009600-19012400	Strong transcription	Colonic Mucosa	Colon
36	chr19:19009600-19012400	ZNF genes & repeats	Lung	lung
37	chr19:19009600-19012600	Strong transcription	Aorta	Aorta
38	chr19:19009600-19012600	Strong transcription	Esophagus	oesophagus
39	chr19:19009600-19012800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr19:19009600-19012800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:19009600-19012800	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr19:19009600-19012800	Strong transcription	NHLF	lung
43	chr19:19009600-19014000	Strong transcription	Primary T cells from cord blood	blood
44	chr19:19009600-19016400	Strong transcription	Fetal Thymus	thymus
45	chr19:19009600-19016800	Weak transcription	HepG2	liver
46	chr19:19009600-19017000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:19009600-19022200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:19009600-19022600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr19:19009600-19022600	Strong transcription	Stomach Smooth Muscle	stomach
50	chr19:19009600-19026400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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