Variant report

Variant	rs4894060
Chromosome Location	chr2:179751817-179751818
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10165177	0.90[EUR][1000 genomes]
rs10803920	0.93[EUR][1000 genomes]
rs11884950	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12693171	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1565287	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4637162	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4894055	0.93[EUR][1000 genomes]
rs4894057	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56345539	0.93[EUR][1000 genomes]
rs6433738	0.83[EUR][1000 genomes]
rs6707222	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6734390	0.87[EUR][1000 genomes]
rs7570928	0.87[EUR][1000 genomes]
rs7573700	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875455	chr2:179732845-179909467	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:179713400-179778600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:179717000-179790600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:179728200-179753800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:179729400-179753600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:179730800-179756000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:179730800-179770800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:179733200-179779200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:179733800-179754200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:179735400-179760800	Weak transcription	Right Ventricle	heart
11	chr2:179739800-179755000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:179744600-179753600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:179747000-179753600	Strong transcription	Primary T cells from cord blood	blood
14	chr2:179748000-179752400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:179748000-179754000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:179748000-179760800	Weak transcription	Right Atrium	heart
17	chr2:179748400-179756000	Weak transcription	Ovary	ovary
18	chr2:179748600-179761400	Weak transcription	Primary B cells from cord blood	blood
19	chr2:179748800-179754000	Weak transcription	Adipose Nuclei	Adipose
20	chr2:179749400-179756400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:179749600-179752000	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:179749600-179772800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:179749800-179753000	Weak transcription	HSMMtube	muscle
24	chr2:179749800-179753400	Weak transcription	Thymus	Thymus
25	chr2:179749800-179755000	Weak transcription	Left Ventricle	heart
26	chr2:179749800-179755400	Weak transcription	Fetal Heart	heart
27	chr2:179749800-179785200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:179750000-179753800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:179750200-179752000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:179751200-179752200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:179751200-179755000	Weak transcription	Psoas Muscle	Psoas
32	chr2:179751200-179775200	Weak transcription	Pancreas	Pancrea
33	chr2:179751800-179753000	Enhancers	Skeletal Muscle Male	skeletal muscle

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