Variant report

Variant	rs62118368
Chromosome Location	chr19:44342442-44342443
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44341536..44343816-chr19:44343993..44346090,2	K562	blood:
2	chr19:44341545..44343672-chr19:44355013..44357623,2	K562	blood:
3	chr19:44341675..44344462-chr19:44346116..44348112,2	K562	blood:
4	chr19:44341536..44343586-chr19:44343855..44345493,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1036246	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405318	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10408461	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10412955	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10415344	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416116	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10421861	0.99[EUR][1000 genomes]
rs10500286	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10500287	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11878787	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11879541	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11880651	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12462507	0.93[ASN][1000 genomes]
rs12608578	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13344589	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1549953	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549954	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549955	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549956	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549957	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549959	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565057	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17712224	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1909	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964381	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1994414	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994415	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994416	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2016345	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2099356	0.93[ASN][1000 genomes]
rs2163855	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2195981	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2217669	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356401	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2356403	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2356432	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2356433	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2356434	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356438	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356439	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239948	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs239949	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs349032	0.95[ASN][1000 genomes]
rs4511643	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57096959	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57133938	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59503823	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60036744	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60085895	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62114569	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62118369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62118371	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62118372	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509120	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247308	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7247863	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248807	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7249057	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7253002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7253384	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7253606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7254659	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259647	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73052639	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73052665	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7508701	0.95[ASN][1000 genomes]
rs8099861	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8106802	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8112065	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8113286	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv458710	chr19:44339960-44410846	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv579853	chr19:44339960-44410846	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr19:44332000-44344400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:44332400-44343400	Weak transcription	Stomach Mucosa	stomach
3	chr19:44332800-44343000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:44332800-44343000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:44332800-44343400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr19:44332800-44348200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:44332800-44357200	ZNF genes & repeats	Liver	Liver
8	chr19:44333600-44357400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:44333800-44343800	Strong transcription	Placenta Amnion	Placenta Amnion
10	chr19:44334000-44347400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr19:44334000-44353200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:44335200-44346200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:44335200-44357200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:44335200-44368200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:44335400-44346000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:44335400-44357200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr19:44335400-44366600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr19:44336400-44342600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
19	chr19:44336400-44342600	Strong transcription	Right Ventricle	heart
20	chr19:44336600-44342600	ZNF genes & repeats	Fetal Kidney	kidney
21	chr19:44336600-44357600	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr19:44336800-44342800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
23	chr19:44336800-44353000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr19:44336800-44356800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
25	chr19:44336800-44357200	ZNF genes & repeats	Fetal Lung	lung
26	chr19:44337200-44347800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
27	chr19:44337800-44342600	Strong transcription	HSMMtube	muscle
28	chr19:44337800-44347600	ZNF genes & repeats	Fetal Muscle Leg	muscle
29	chr19:44338000-44349600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
30	chr19:44338000-44352800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:44338600-44342800	ZNF genes & repeats	Lung	lung
32	chr19:44339000-44343000	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr19:44339000-44349600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
34	chr19:44339000-44352800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
35	chr19:44339000-44355400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
36	chr19:44339200-44342800	ZNF genes & repeats	Aorta	Aorta
37	chr19:44339200-44342800	ZNF genes & repeats	Ovary	ovary
38	chr19:44339200-44342800	ZNF genes & repeats	Small Intestine	intestine
39	chr19:44339200-44342800	ZNF genes & repeats	Spleen	Spleen
40	chr19:44339200-44344200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
41	chr19:44339200-44344600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:44339200-44345400	ZNF genes & repeats	Fetal Brain Male	brain
43	chr19:44339200-44347600	ZNF genes & repeats	Fetal Brain Female	brain
44	chr19:44339200-44347600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
45	chr19:44339200-44348000	ZNF genes & repeats	Colonic Mucosa	Colon
46	chr19:44339200-44348200	ZNF genes & repeats	Psoas Muscle	Psoas
47	chr19:44339200-44348400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:44339200-44349000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
49	chr19:44339200-44349000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
50	chr19:44339200-44349400	ZNF genes & repeats	A549	lung

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