Variant report

Variant	rs55759935
Chromosome Location	chr2:231385845-231385846
allele	C/G
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:25)

rs_ID	r²[population]
rs12991608	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12991681	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12992343	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009809	1.00[ASN][1000 genomes]
rs13031070	1.00[ASN][1000 genomes]
rs13035698	1.00[ASN][1000 genomes]
rs1559989	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16827319	1.00[ASN][1000 genomes]
rs17275036	1.00[ASN][1000 genomes]
rs28829019	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34078648	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35092618	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35485737	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35717626	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36078281	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36144939	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60106579	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705605	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6728423	1.00[ASN][1000 genomes]
rs6729378	1.00[ASN][1000 genomes]
rs6742738	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751402	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71355945	1.00[ASN][1000 genomes]
rs7576889	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7586695	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer 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	18 gene(s)	inside rSNPs	diseases
2	nsv875948	chr2:231380697-231420401	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv584673	chr2:231385231-231433237	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231370800-231389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:231371000-231409800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:231372400-231386200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:231375200-231390200	Weak transcription	Ovary	ovary
5	chr2:231376600-231386000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:231376600-231390200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:231376600-231390400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:231378000-231390800	Weak transcription	Spleen	Spleen
9	chr2:231378400-231386000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:231383800-231386800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:231383800-231387200	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr2:231384000-231386600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:231384200-231386800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
14	chr2:231384200-231387200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr2:231384400-231386200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr2:231384600-231386600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
17	chr2:231384600-231386800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
18	chr2:231384600-231386800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:231384800-231386000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:231384800-231386200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
21	chr2:231384800-231386400	ZNF genes & repeats	Primary T cells from cord blood	blood
22	chr2:231384800-231386800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:231385000-231386400	ZNF genes & repeats	GM12878-XiMat	blood
24	chr2:231385000-231386600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
25	chr2:231385000-231386800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:231385000-231387000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
27	chr2:231385200-231386600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:231385200-231386600	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr2:231385200-231386600	ZNF genes & repeats	Left Ventricle	heart
30	chr2:231385200-231387000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:231385200-231390400	Weak transcription	Small Intestine	intestine
32	chr2:231385400-231386600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:231385400-231391000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:231385600-231390200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:231385800-231386000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:231385800-231386200	Flanking Active TSS	Liver	Liver
37	chr2:231385800-231386200	Enhancers	Osteobl	bone
38	chr2:231385800-231386800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:231385800-231387200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood

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