Variant report

Variant	rs73930999
Chromosome Location	chr19:38027046-38027047
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10153500	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10424047	0.83[EUR][1000 genomes]
rs11083424	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11880056	0.83[EUR][1000 genomes]
rs11883255	0.83[EUR][1000 genomes]
rs2112921	0.86[EUR][1000 genomes]
rs34206817	0.83[EUR][1000 genomes]
rs45505797	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56075341	0.83[EUR][1000 genomes]
rs56264690	0.83[EUR][1000 genomes]
rs56281742	0.83[EUR][1000 genomes]
rs56917663	0.86[EUR][1000 genomes]
rs57504517	0.83[EUR][1000 genomes]
rs57867853	0.83[EUR][1000 genomes]
rs59966837	0.83[EUR][1000 genomes]
rs60159855	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60686304	0.83[EUR][1000 genomes]
rs62108260	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62108289	0.83[EUR][1000 genomes]
rs62108290	0.83[EUR][1000 genomes]
rs62108292	0.83[EUR][1000 genomes]
rs62108293	0.83[EUR][1000 genomes]
rs62108297	0.83[EUR][1000 genomes]
rs62108348	0.83[EUR][1000 genomes]
rs62108354	0.83[EUR][1000 genomes]
rs62110178	0.83[EUR][1000 genomes]
rs62111488	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62111490	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7245981	0.83[EUR][1000 genomes]
rs7247175	0.83[EUR][1000 genomes]
rs7254780	0.81[EUR][1000 genomes]
rs7255938	0.81[EUR][1000 genomes]
rs7258992	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7259029	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7259321	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7259717	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73932929	0.83[EUR][1000 genomes]
rs8100308	0.82[EUR][1000 genomes]
rs8101991	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8102189	0.83[EUR][1000 genomes]
rs8104124	0.83[EUR][1000 genomes]
rs8104747	0.83[EUR][1000 genomes]
rs8108261	0.83[EUR][1000 genomes]
rs8109806	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription 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	23 gene(s)	inside rSNPs	diseases
2	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv2478	chr19:38025340-38043818	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37999000-38028800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:38002000-38028800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr19:38017400-38028800	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:38021600-38028800	ZNF genes & repeats	Primary T cells from cord blood	blood
5	chr19:38021600-38030200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr19:38021800-38028800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr19:38021800-38028800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:38021800-38028800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:38021800-38028800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:38021800-38028800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:38021800-38029800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:38021800-38030000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:38021800-38030800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr19:38021800-38031600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:38022000-38028400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:38022000-38028800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
17	chr19:38022000-38030600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr19:38022200-38027200	Strong transcription	Right Ventricle	heart
19	chr19:38022200-38028600	ZNF genes & repeats	Primary B cells from cord blood	blood
20	chr19:38022200-38028600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
21	chr19:38022200-38028600	ZNF genes & repeats	Fetal Stomach	stomach
22	chr19:38022200-38028800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
23	chr19:38022200-38028800	ZNF genes & repeats	Esophagus	oesophagus
24	chr19:38022200-38028800	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr19:38022200-38028800	ZNF genes & repeats	Left Ventricle	heart
26	chr19:38022200-38028800	ZNF genes & repeats	Spleen	Spleen
27	chr19:38022200-38029400	ZNF genes & repeats	Aorta	Aorta
28	chr19:38022200-38029600	ZNF genes & repeats	Ovary	ovary
29	chr19:38022200-38030200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:38022200-38037000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr19:38022400-38027400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:38022400-38028000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
33	chr19:38022400-38028600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
34	chr19:38022400-38028600	ZNF genes & repeats	Lung	lung
35	chr19:38022400-38028800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:38022400-38028800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:38022400-38028800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr19:38022400-38028800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr19:38022400-38028800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
40	chr19:38022400-38028800	ZNF genes & repeats	Liver	Liver
41	chr19:38022400-38028800	ZNF genes & repeats	Fetal Lung	lung
42	chr19:38022400-38028800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
43	chr19:38022400-38029600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr19:38022400-38032800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
45	chr19:38022600-38028600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
46	chr19:38022600-38028600	ZNF genes & repeats	Small Intestine	intestine
47	chr19:38022600-38028800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
48	chr19:38022800-38027200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:38023000-38027600	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr19:38023200-38028800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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