Variant report

Variant	rs7254780
Chromosome Location	chr19:37926920-37926921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10153500	1.00[CEU][hapmap]
rs11083424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2112921	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305115	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[EUR][1000 genomes]
rs2921563	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[EUR][1000 genomes]
rs2972597	0.87[EUR][1000 genomes]
rs2972598	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs3745763	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs45505797	0.81[EUR][1000 genomes]
rs56743641	0.87[EUR][1000 genomes]
rs56917663	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59957425	0.87[EUR][1000 genomes]
rs60159855	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61290534	0.81[EUR][1000 genomes]
rs6508718	1.00[CEU][hapmap];0.92[YRI][hapmap];0.81[EUR][1000 genomes]
rs6508720	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7247654	0.87[EUR][1000 genomes]
rs7255938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7259321	0.90[EUR][1000 genomes]
rs73930999	0.81[EUR][1000 genomes]
rs8100308	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8109806	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8110164	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[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	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	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

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37898000-37927000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:37898000-37956400	ZNF genes & repeats	Liver	Liver
3	chr19:37900200-37927000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr19:37903200-37927200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:37903200-37936600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:37903400-37936400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
7	chr19:37906800-37927000	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:37906800-37936600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
9	chr19:37910800-37956000	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr19:37911000-37927000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
11	chr19:37911200-37927000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr19:37911200-37927000	ZNF genes & repeats	Dnd41	blood
13	chr19:37911200-37936600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr19:37911200-37936600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
15	chr19:37911200-37954600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr19:37914800-37927000	ZNF genes & repeats	Brain Germinal Matrix	brain
17	chr19:37916600-37927200	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr19:37920000-37927000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:37920600-37927600	Weak transcription	Fetal Heart	heart
20	chr19:37921200-37927000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:37923000-37929000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:37923200-37929000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr19:37923400-37929000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:37923400-37929200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:37924400-37932800	Weak transcription	Osteobl	bone
26	chr19:37924600-37927000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:37924800-37929000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:37925000-37930400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:37925000-37943400	Weak transcription	HSMM	muscle
30	chr19:37925200-37929000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr19:37925400-37931800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:37925600-37929200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr19:37925800-37928800	Weak transcription	Ovary	ovary
34	chr19:37926000-37928000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:37926000-37928800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:37926000-37928800	Weak transcription	Fetal Stomach	stomach
37	chr19:37926000-37929000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:37926000-37929000	Weak transcription	Gastric	stomach
39	chr19:37926000-37929000	Weak transcription	Left Ventricle	heart
40	chr19:37926000-37929000	Weak transcription	Lung	lung
41	chr19:37926000-37929000	Weak transcription	Pancreas	Pancrea
42	chr19:37926000-37929000	Weak transcription	Thymus	Thymus
43	chr19:37926000-37929000	Weak transcription	Spleen	Spleen
44	chr19:37926200-37927000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:37926400-37927000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
46	chr19:37926400-37929000	Weak transcription	Aorta	Aorta
47	chr19:37926600-37927000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:37926800-37927800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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