Variant report

Variant	rs61378194
Chromosome Location	chr2:63042868-63042869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13383678	1.00[EUR][1000 genomes]
rs13432479	1.00[EUR][1000 genomes]
rs55650545	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56738177	1.00[AMR][1000 genomes]
rs57002163	1.00[EUR][1000 genomes]
rs57127049	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58171425	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59831223	1.00[EUR][1000 genomes]
rs6727408	1.00[EUR][1000 genomes]
rs6728740	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6732313	1.00[EUR][1000 genomes]
rs6732451	1.00[EUR][1000 genomes]
rs6754557	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72888969	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890504	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890505	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890506	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7598412	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599037	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63017400-63049400	Weak transcription	Fetal Heart	heart
2	chr2:63019600-63043400	Weak transcription	Brain Angular Gyrus	brain
3	chr2:63020600-63082000	Weak transcription	Pancreas	Pancrea
4	chr2:63023800-63049000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:63028600-63063400	Weak transcription	Brain Substantia Nigra	brain
6	chr2:63031000-63083000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:63031400-63082000	Weak transcription	Thymus	Thymus
8	chr2:63031600-63053800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:63033800-63052800	Weak transcription	Primary T cells from cord blood	blood
10	chr2:63033800-63060600	Weak transcription	Aorta	Aorta
11	chr2:63034400-63054000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:63035200-63045400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:63035200-63053000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:63038200-63054000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:63040400-63048600	Weak transcription	Liver	Liver
16	chr2:63040600-63082000	Weak transcription	Lung	lung
17	chr2:63040800-63046000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:63040800-63048600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:63040800-63053400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:63041000-63053200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:63041200-63048400	Weak transcription	HepG2	liver
22	chr2:63041400-63053200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:63041600-63044000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:63041600-63044000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:63041600-63044200	Weak transcription	Osteobl	bone
26	chr2:63041600-63044600	Weak transcription	NHEK	skin
27	chr2:63041600-63044800	Weak transcription	HMEC	breast
28	chr2:63041600-63053200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:63041600-63060400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:63041800-63044000	Weak transcription	A549	lung
31	chr2:63041800-63044200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:63041800-63045200	Weak transcription	Ovary	ovary
33	chr2:63041800-63045400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:63041800-63052400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:63041800-63053200	Weak transcription	Adipose Nuclei	Adipose
36	chr2:63041800-63054000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:63041800-63060400	Weak transcription	K562	blood
38	chr2:63042000-63054200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:63042400-63043800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:63042400-63044200	Weak transcription	NHLF	lung
41	chr2:63042600-63043600	Weak transcription	NHDF-Ad	bronchial
42	chr2:63042600-63044400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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