Variant report

Variant	rs73098973
Chromosome Location	chr2:231390127-231390128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16827346	0.96[AFR][1000 genomes]
rs16827354	0.80[AFR][1000 genomes]
rs56756913	0.92[AFR][1000 genomes]
rs59844349	0.96[AFR][1000 genomes]
rs61733089	1.00[AMR][1000 genomes]
rs7562402	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7562968	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7571166	1.00[AMR][1000 genomes]
rs7589130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7603185	1.00[AFR][1000 genomes];1.00[AMR][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231371000-231409800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:231375200-231390200	Weak transcription	Ovary	ovary
3	chr2:231376600-231390200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:231376600-231390400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:231378000-231390800	Weak transcription	Spleen	Spleen
6	chr2:231385200-231390400	Weak transcription	Small Intestine	intestine
7	chr2:231385400-231391000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:231385600-231390200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:231386600-231390200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:231386600-231390200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:231386600-231390200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:231386600-231390200	Weak transcription	Left Ventricle	heart
13	chr2:231386800-231390200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:231386800-231390400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:231386800-231390400	Weak transcription	Primary T cells from cord blood	blood
16	chr2:231386800-231390400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:231386800-231391000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:231387000-231390200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:231387000-231390400	Weak transcription	Liver	Liver
20	chr2:231387400-231390200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:231388000-231390200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:231388200-231390200	Weak transcription	Thymus	Thymus
23	chr2:231389200-231391000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr2:231389400-231390200	Weak transcription	Esophagus	oesophagus
25	chr2:231389400-231391200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:231389600-231390400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:231389600-231390400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
28	chr2:231389600-231390800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:231389600-231391000	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr2:231390000-231390400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
31	chr2:231390000-231390600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
32	chr2:231390000-231390600	ZNF genes & repeats	Primary B cells from cord blood	blood
33	chr2:231390000-231390600	ZNF genes & repeats	Dnd41	blood
34	chr2:231390000-231390600	ZNF genes & repeats	GM12878-XiMat	blood
35	chr2:231390000-231390800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:231390000-231390800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:231390000-231391000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin

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