Variant report

Variant	rs60293110
Chromosome Location	chr19:37404773-37404774
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10401212	1.00[EUR][1000 genomes]
rs10404981	0.86[ASN][1000 genomes]
rs10407557	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10408951	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409206	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10414781	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10414907	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10418144	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10426008	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11084868	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12981965	0.85[ASN][1000 genomes]
rs13345230	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16971771	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971772	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010342	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385470	1.00[EUR][1000 genomes]
rs28626335	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3955478	1.00[EUR][1000 genomes]
rs4006391	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4006392	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4805189	0.99[ASN][1000 genomes]
rs4805190	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4806376	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4806377	0.88[ASN][1000 genomes]
rs56387564	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62115573	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62115574	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62115612	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62115615	0.85[ASN][1000 genomes]
rs7249013	0.90[ASN][1000 genomes]
rs7257045	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7257251	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7257484	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73626774	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8101922	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304878	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
12	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers 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 target site	25 gene(s)	inside rSNPs	diseases
13	nsv911651	chr19:37300554-37428465	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
15	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
16	nsv458569	chr19:37331614-37412887	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv579462	chr19:37331614-37412887	Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv523848	chr19:37357289-37487632	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37344400-37406400	ZNF genes & repeats	Liver	Liver
2	chr19:37353400-37405000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:37374000-37405400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:37374400-37406400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:37380400-37405000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:37393000-37406200	Weak transcription	HUVEC	blood vessel
7	chr19:37393400-37406000	Weak transcription	NHLF	lung
8	chr19:37395200-37406800	Weak transcription	Stomach Mucosa	stomach
9	chr19:37395400-37406000	Weak transcription	NHEK	skin
10	chr19:37397600-37406000	Weak transcription	Fetal Heart	heart
11	chr19:37398200-37405000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr19:37399200-37406000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:37399200-37406000	Weak transcription	NH-A	brain
14	chr19:37399400-37406000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:37399400-37406000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr19:37399400-37406000	Weak transcription	Esophagus	oesophagus
17	chr19:37399400-37406000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr19:37399400-37406200	Weak transcription	Colonic Mucosa	Colon
19	chr19:37399400-37406200	Weak transcription	Fetal Thymus	thymus
20	chr19:37399400-37406200	Weak transcription	Gastric	stomach
21	chr19:37399400-37406200	Weak transcription	Psoas Muscle	Psoas
22	chr19:37399600-37405800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:37399600-37406000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:37399600-37406000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr19:37399600-37406000	Weak transcription	Fetal Brain Male	brain
26	chr19:37399600-37406000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr19:37399600-37406200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:37399600-37406200	Weak transcription	Brain Angular Gyrus	brain
29	chr19:37400200-37406200	Weak transcription	Osteobl	bone
30	chr19:37400400-37406000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr19:37400400-37406000	Weak transcription	Fetal Kidney	kidney
32	chr19:37400400-37406200	Weak transcription	Colon Smooth Muscle	Colon
33	chr19:37400400-37406200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr19:37400400-37406200	Weak transcription	Fetal Muscle Leg	muscle
35	chr19:37400400-37406800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr19:37401000-37405200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:37401400-37406400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:37401800-37404800	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr19:37401800-37405800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:37402000-37406000	Weak transcription	Left Ventricle	heart
41	chr19:37402400-37405800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:37402400-37406000	Weak transcription	Fetal Stomach	stomach
43	chr19:37402400-37406200	Weak transcription	Lung	lung
44	chr19:37402600-37406200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr19:37402800-37406000	Weak transcription	Fetal Intestine Large	intestine
46	chr19:37402800-37406200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:37403000-37405200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr19:37403000-37405800	Weak transcription	Fetal Brain Female	brain
49	chr19:37403000-37406000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:37403000-37406000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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