Variant report

Variant	rs8113096
Chromosome Location	chr19:18812756-18812757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18810890..18813557-chr19:18875190..18876829,2	K562	blood:
2	chr19:18789026..18790711-chr19:18810926..18813520,2	K562	blood:
3	chr19:18653429..18654988-chr19:18810315..18813230,2	K562	blood:

Variant related genes	Relation type
ENSG00000105701	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11085240	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11085241	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11668545	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11880800	0.80[EUR][1000 genomes]
rs12462498	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2003475	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2023878	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34482977	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs757317	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv960927	chr19:18808010-18837082	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18797200-18822400	Weak transcription	HepG2	liver
2	chr19:18812000-18844200	Weak transcription	Fetal Kidney	kidney
3	chr19:18812200-18812800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:18812200-18812800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr19:18812200-18823600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:18812400-18812800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr19:18812400-18812800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr19:18812400-18812800	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr19:18812400-18813000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:18812400-18813000	Enhancers	Duodenum Mucosa	Duodenum
11	chr19:18812400-18813400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr19:18812400-18813400	Enhancers	Primary B cells from cord blood	blood
13	chr19:18812400-18813600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:18812400-18813800	Enhancers	Primary B cells from peripheral blood	blood
15	chr19:18812400-18814600	Weak transcription	Lung	lung
16	chr19:18812400-18815000	Weak transcription	Colonic Mucosa	Colon
17	chr19:18812400-18817400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr19:18812400-18818600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr19:18812400-18818600	Weak transcription	Colon Smooth Muscle	Colon
20	chr19:18812400-18818800	Weak transcription	Fetal Stomach	stomach
21	chr19:18812400-18818800	Weak transcription	Gastric	stomach
22	chr19:18812400-18819200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:18812400-18819400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:18812400-18819400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr19:18812400-18819600	Weak transcription	Brain Anterior Caudate	brain
26	chr19:18812400-18820000	Weak transcription	Right Ventricle	heart
27	chr19:18812400-18820400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:18812400-18821000	Weak transcription	Fetal Lung	lung
29	chr19:18812400-18821800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr19:18812400-18821800	Weak transcription	Fetal Intestine Small	intestine
31	chr19:18812400-18824000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:18812400-18824000	Weak transcription	Fetal Brain Female	brain
33	chr19:18812400-18827600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:18812400-18827800	Weak transcription	Brain Germinal Matrix	brain
35	chr19:18812600-18818800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr19:18812600-18819000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr19:18812600-18820000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr19:18812600-18821800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:18812600-18825800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr19:18812600-18828200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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