Variant report

Variant	rs862248
Chromosome Location	chr19:37503292-37503293
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1069756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1069757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644644	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644646	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644653	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644655	0.97[AFR][1000 genomes]
rs1644680	0.97[AFR][1000 genomes]
rs1644694	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644709	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1667332	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1667334	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1667361	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1667362	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254217	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2435066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562590	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35624635	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477893	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs485980	0.82[AFR][1000 genomes]
rs486891	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs549031	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs573596	0.85[AFR][1000 genomes]
rs577844	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7250855	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7251397	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7251690	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7255103	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7255177	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7255728	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7257279	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7258653	1.00[AMR][1000 genomes]
rs7259422	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7259881	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8102364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs826286	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs826287	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
7	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
8	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
9	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
10	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
11	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
12	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases
14	nsv911653	chr19:37482151-37556673	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv961214	chr19:37494699-37506227	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37498000-37508400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:37498200-37506800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
3	chr19:37498200-37507800	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr19:37498200-37508000	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:37498400-37505200	ZNF genes & repeats	Lung	lung
6	chr19:37498400-37506600	ZNF genes & repeats	Brain Germinal Matrix	brain
7	chr19:37498400-37507800	ZNF genes & repeats	Fetal Stomach	stomach
8	chr19:37498400-37507800	ZNF genes & repeats	Pancreas	Pancrea
9	chr19:37498400-37508000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:37498400-37508400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:37498600-37506000	ZNF genes & repeats	Fetal Brain Female	brain
12	chr19:37498600-37506800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:37498600-37509200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr19:37498800-37503600	ZNF genes & repeats	Gastric	stomach
15	chr19:37498800-37507800	ZNF genes & repeats	Spleen	Spleen
16	chr19:37499200-37507800	ZNF genes & repeats	Ovary	ovary
17	chr19:37499200-37508800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:37500600-37503600	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr19:37500600-37506400	Weak transcription	Right Ventricle	heart
20	chr19:37502000-37503400	ZNF genes & repeats	Left Ventricle	heart
21	chr19:37502200-37503400	ZNF genes & repeats	Aorta	Aorta
22	chr19:37502400-37506000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr19:37502600-37503800	Strong transcription	Pancreatic Islets	Pancreatic Islet
24	chr19:37502600-37503800	Strong transcription	Fetal Lung	lung
25	chr19:37502600-37506400	Weak transcription	Fetal Heart	heart
26	chr19:37502800-37503600	ZNF genes & repeats	Placenta	Placenta
27	chr19:37502800-37504400	Weak transcription	Brain Hippocampus Middle	brain
28	chr19:37503200-37503400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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