Variant report

Variant	rs61290534
Chromosome Location	chr19:37866642-37866643
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11083424	0.87[EUR][1000 genomes]
rs2112921	0.87[EUR][1000 genomes]
rs2305115	0.93[EUR][1000 genomes]
rs2921563	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2972597	0.93[EUR][1000 genomes]
rs2972598	0.93[EUR][1000 genomes]
rs3745763	1.00[ASN][1000 genomes]
rs56743641	0.93[EUR][1000 genomes]
rs56917663	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs59957425	0.93[EUR][1000 genomes]
rs6508718	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6508720	0.84[AFR][1000 genomes]
rs7247654	0.93[EUR][1000 genomes]
rs7254780	0.81[EUR][1000 genomes]
rs7255938	0.81[EUR][1000 genomes]
rs7259321	0.83[EUR][1000 genomes]
rs8100308	0.83[EUR][1000 genomes]
rs8109806	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs8110164	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1058788	chr19:37857748-37899157	ZNF genes & repeats Weak transcription Strong transcription Active TSS 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	6 gene(s)	inside rSNPs	diseases
6	nsv579464	chr19:37858660-37881556	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37862200-37867200	ZNF genes & repeats	A549	lung
2	chr19:37862600-37871000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:37862800-37870600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:37862800-37871000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:37863200-37872000	Weak transcription	Fetal Heart	heart
6	chr19:37863400-37867200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:37863400-37872000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:37863600-37867000	ZNF genes & repeats	Dnd41	blood
9	chr19:37863800-37867200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:37863800-37868800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:37863800-37873200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:37864000-37867000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:37864000-37867000	ZNF genes & repeats	Primary B cells from cord blood	blood
14	chr19:37864000-37867200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr19:37864000-37867600	ZNF genes & repeats	Fetal Brain Female	brain
16	chr19:37864000-37869000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:37864000-37869400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:37864000-37882000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:37864000-37882000	ZNF genes & repeats	Liver	Liver
20	chr19:37864400-37867000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr19:37864400-37869000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
22	chr19:37864400-37869200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr19:37864400-37880600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:37864400-37880800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr19:37864600-37866800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:37864600-37867000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr19:37864600-37867000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
28	chr19:37864600-37867200	ZNF genes & repeats	Aorta	Aorta
29	chr19:37864600-37867200	ZNF genes & repeats	Brain Germinal Matrix	brain
30	chr19:37864600-37867200	ZNF genes & repeats	Pancreas	Pancrea
31	chr19:37864600-37867200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
32	chr19:37864600-37867400	ZNF genes & repeats	Thymus	Thymus
33	chr19:37864600-37867800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:37864600-37868800	ZNF genes & repeats	Ovary	ovary
35	chr19:37864600-37869200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:37864600-37873400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:37864600-37880600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
38	chr19:37864600-37890600	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr19:37864800-37866800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:37864800-37867600	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr19:37864800-37870800	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr19:37864800-37870800	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr19:37865000-37867000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr19:37865000-37867000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
45	chr19:37865000-37867200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
46	chr19:37865000-37867200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
47	chr19:37865000-37867400	Strong transcription	Colon Smooth Muscle	Colon
48	chr19:37865000-37867400	Strong transcription	Placenta	Placenta
49	chr19:37865000-37867400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr19:37865000-37868800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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