Variant report

Variant	rs60588790
Chromosome Location	chr19:20016895-20016896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:20012007..20015625-chr19:20016618..20018648,3	K562	blood:
2	chr19:20015522..20017242-chr19:20021366..20023292,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10406883	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11881376	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16994693	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2060238	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2098331	1.00[ASN][1000 genomes]
rs2335372	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55696844	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55849911	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55984158	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57088108	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57575150	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57920747	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58922627	0.86[ASN][1000 genomes]
rs58948242	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59511604	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59795312	1.00[EUR][1000 genomes]
rs60409469	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7249318	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7251285	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7253023	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254824	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73530903	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73530906	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73530911	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73530927	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73530932	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73530989	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73530999	1.00[ASN][1000 genomes]
rs73925530	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73925536	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73925537	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104442	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104555	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv911314	chr19:19866371-20021046	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv519535	chr19:19871250-20595412	Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
4	nsv911315	chr19:19872093-20021046	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv911316	chr19:19890450-20021046	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv961192	chr19:19906394-20083740	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv3319016	chr19:19917475-20819154	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
8	esv3319017	chr19:19917475-20819154	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
9	esv3413756	chr19:19936066-20072059	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv3380276	chr19:19936583-20073601	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv3429980	chr19:19943721-20102072	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1061846	chr19:19946927-20595412	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
13	esv3390957	chr19:19965887-20819154	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
14	nsv869122	chr19:19969851-20595412	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
15	nsv1057569	chr19:19973268-20193556	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv1059158	chr19:19973489-20576161	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers 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	43 gene(s)	inside rSNPs	diseases
17	esv3407363	chr19:20000919-20059307	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20012600-20030000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:20012800-20017200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr19:20012800-20034200	Weak transcription	Pancreas	Pancrea
4	chr19:20012800-20034200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:20012800-20034600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr19:20012800-20043400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:20013000-20019000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:20013000-20019800	Weak transcription	HSMM	muscle
9	chr19:20013000-20022600	Weak transcription	Aorta	Aorta
10	chr19:20013000-20024200	Weak transcription	Ovary	ovary
11	chr19:20013000-20034000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:20013000-20034600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:20013000-20034600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr19:20013000-20035200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr19:20013000-20039600	Weak transcription	Colon Smooth Muscle	Colon
16	chr19:20013200-20017200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr19:20013200-20017400	Weak transcription	Fetal Lung	lung
18	chr19:20013200-20019600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr19:20013200-20021800	Weak transcription	Fetal Heart	heart
20	chr19:20013200-20026000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:20013200-20026200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr19:20013200-20027400	Weak transcription	HSMMtube	muscle
23	chr19:20013200-20027600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr19:20013200-20028600	Weak transcription	Adipose Nuclei	Adipose
25	chr19:20013200-20028800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr19:20013200-20034600	Weak transcription	Primary T cells from cord blood	blood
27	chr19:20013200-20043600	Weak transcription	Fetal Brain Male	brain
28	chr19:20013400-20018800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr19:20013400-20019800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr19:20013400-20019800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:20013400-20021000	Weak transcription	Left Ventricle	heart
32	chr19:20013400-20027400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:20013400-20033600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr19:20013400-20034000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:20013400-20034000	Weak transcription	Placenta	Placenta
36	chr19:20013400-20034200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr19:20013400-20035800	Weak transcription	Osteobl	bone
38	chr19:20013800-20017200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:20014000-20017400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr19:20014000-20028800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:20014000-20032600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr19:20014400-20027600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:20014800-20019400	Weak transcription	Fetal Intestine Small	intestine
44	chr19:20014800-20027000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:20014800-20034000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:20015000-20017000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr19:20015200-20017800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:20015400-20021600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:20015800-20024400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:20015800-20033400	Weak transcription	H9 Cell Line	embryonic stem cell

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