Variant report

Variant	rs1643457
Chromosome Location	chr19:38483277-38483278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38481842..38483998-chr19:38488406..38490130,2	K562	blood:
2	chr19:38480879..38483750-chr19:38494788..38496320,2	MCF-7	breast:
3	chr19:38470130..38474074-chr19:38479565..38484723,5	MCF-7	breast:
4	chr19:38395223..38398524-chr19:38481213..38484062,6	MCF-7	breast:
5	chr19:38393241..38399415-chr19:38476540..38485383,15	MCF-7	breast:
6	chr19:38407792..38410171-chr19:38481203..38483917,2	MCF-7	breast:
7	chr19:38423743..38426556-chr19:38482738..38484356,2	MCF-7	breast:
8	chr19:38472927..38474902-chr19:38482178..38484229,2	K562	blood:
9	chr19:38431713..38434433-chr19:38480033..38484198,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171804	Chromatin interaction
ENSG00000105738	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10853715	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1622543	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1643455	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1643456	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643459	0.84[EUR][1000 genomes]
rs1725501	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1725503	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2694065	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57733318	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs705501	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705502	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs833893	0.89[EUR][1000 genomes]
rs833894	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs833901	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs833902	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs833903	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs833904	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs833905	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs833906	0.82[EUR][1000 genomes]
rs833907	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs833908	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs833919	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs833920	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs833921	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38461600-38493600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:38461600-38493600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr19:38463800-38484800	Weak transcription	Fetal Stomach	stomach
4	chr19:38468200-38483600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr19:38470800-38494000	Weak transcription	Right Ventricle	heart
6	chr19:38471200-38493800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:38471400-38483600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr19:38471400-38488600	Weak transcription	NHLF	lung
9	chr19:38472400-38493800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:38472800-38489600	Weak transcription	Fetal Kidney	kidney
11	chr19:38473200-38488600	Weak transcription	HSMMtube	muscle
12	chr19:38474800-38513600	Weak transcription	Gastric	stomach
13	chr19:38475000-38488600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:38475800-38488600	Weak transcription	Hela-S3	cervix
15	chr19:38476400-38484800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:38476800-38483800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr19:38477200-38483800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr19:38477200-38488800	Weak transcription	Brain Anterior Caudate	brain
19	chr19:38477400-38491800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr19:38477600-38493800	Weak transcription	Thymus	Thymus
21	chr19:38478000-38483800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:38478000-38483800	Genic enhancers	A549	lung
23	chr19:38478200-38483800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:38478600-38483400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:38479200-38493800	Weak transcription	Colonic Mucosa	Colon
26	chr19:38479600-38485400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr19:38479800-38483400	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr19:38479800-38484800	Weak transcription	Primary T cells from cord blood	blood
29	chr19:38479800-38488600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:38479800-38489800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr19:38480000-38485400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:38480000-38488600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr19:38480000-38493600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:38480000-38493600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr19:38480000-38493800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr19:38480200-38489800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:38480400-38483600	Enhancers	HMEC	breast
38	chr19:38480600-38483600	Enhancers	NHEK	skin
39	chr19:38480600-38483800	Enhancers	Lung	lung
40	chr19:38481000-38493800	Weak transcription	Small Intestine	intestine
41	chr19:38481200-38485000	Weak transcription	Liver	Liver
42	chr19:38481400-38485000	Weak transcription	Spleen	Spleen
43	chr19:38482000-38485000	Enhancers	Pancreas	Pancrea
44	chr19:38482200-38493800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr19:38482400-38483600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:38482400-38484600	Weak transcription	Fetal Intestine Large	intestine
47	chr19:38482400-38485000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr19:38482400-38485200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr19:38482400-38488400	Weak transcription	Fetal Muscle Leg	muscle
50	chr19:38482400-38489200	Weak transcription	Adipose Nuclei	Adipose

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