Variant report

Variant	rs60085895
Chromosome Location	chr19:44347424-44347425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44341675..44344462-chr19:44346116..44348112,2	K562	blood:
2	chr19:44346181..44347972-chr19:44350637..44353162,2	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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10405318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10408461	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10412955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10415344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10416116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10421861	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10500286	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10500287	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11878787	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11879541	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11880651	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12462507	0.92[ASN][1000 genomes]
rs12608578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13344589	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1549953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1549954	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1549955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1549956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1549957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1549959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1565057	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17712224	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1909	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1964381	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1994414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1994415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1994416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2016345	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2099356	0.91[ASN][1000 genomes]
rs2163855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2195981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2217669	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2356401	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2356403	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2356432	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2356433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2356434	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2356438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2356439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs239948	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs239949	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs349032	0.93[ASN][1000 genomes]
rs4511643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57096959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57133938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59503823	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60036744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62114569	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62118368	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62118369	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62118371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62118372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6509120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7247308	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7247863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7248807	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7249057	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7253002	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7253384	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7253606	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7254659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7259647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73052639	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73052665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7508701	0.93[ASN][1000 genomes]
rs8099861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8106802	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8112065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8113286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44332800-44348200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:44332800-44357200	ZNF genes & repeats	Liver	Liver
3	chr19:44333600-44357400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:44334000-44353200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:44335200-44357200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:44335200-44368200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:44335400-44357200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr19:44335400-44366600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr19:44336600-44357600	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr19:44336800-44353000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr19:44336800-44356800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr19:44336800-44357200	ZNF genes & repeats	Fetal Lung	lung
13	chr19:44337200-44347800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
14	chr19:44337800-44347600	ZNF genes & repeats	Fetal Muscle Leg	muscle
15	chr19:44338000-44349600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
16	chr19:44338000-44352800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:44339000-44349600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr19:44339000-44352800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
19	chr19:44339000-44355400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
20	chr19:44339200-44347600	ZNF genes & repeats	Fetal Brain Female	brain
21	chr19:44339200-44347600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
22	chr19:44339200-44348000	ZNF genes & repeats	Colonic Mucosa	Colon
23	chr19:44339200-44348200	ZNF genes & repeats	Psoas Muscle	Psoas
24	chr19:44339200-44348400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:44339200-44349000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
26	chr19:44339200-44349000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
27	chr19:44339200-44349400	ZNF genes & repeats	A549	lung
28	chr19:44339200-44349600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
29	chr19:44339200-44349600	ZNF genes & repeats	Brain Angular Gyrus	brain
30	chr19:44339200-44355400	ZNF genes & repeats	Primary B cells from cord blood	blood
31	chr19:44339200-44355400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
32	chr19:44339200-44357200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:44339400-44347800	ZNF genes & repeats	Brain Germinal Matrix	brain
34	chr19:44339400-44348200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:44339400-44349600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr19:44339400-44349600	ZNF genes & repeats	Brain Substantia Nigra	brain
37	chr19:44339400-44350200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
38	chr19:44339400-44352600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
39	chr19:44339400-44352600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:44339400-44355400	ZNF genes & repeats	Primary T cells from cord blood	blood
41	chr19:44339400-44355600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:44339600-44355400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
43	chr19:44339800-44348000	ZNF genes & repeats	Colon Smooth Muscle	Colon
44	chr19:44340400-44348000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
45	chr19:44340800-44347600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
46	chr19:44340800-44350000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:44340800-44353000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:44341000-44347800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr19:44341000-44347800	ZNF genes & repeats	NHEK	skin
50	chr19:44341000-44348000	ZNF genes & repeats	GM12878-XiMat	blood

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