Variant report

Variant	rs13426858
Chromosome Location	chr2:179759187-179759188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179758444..179761405-chr2:179761533..179763103,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1016800	0.86[AMR][1000 genomes]
rs10171295	0.80[EUR][1000 genomes]
rs10171735	0.81[AMR][1000 genomes]
rs10187266	0.87[AMR][1000 genomes]
rs10192958	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10195818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198755	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10210588	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1032281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12616202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12990416	1.00[JPT][hapmap]
rs13388262	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13391052	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13416260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418449	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13419346	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13426103	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28547002	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4893858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894056	0.87[AMR][1000 genomes]
rs4894063	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57183380	0.86[AMR][1000 genomes]
rs73041922	0.80[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	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
3	nsv583756	chr2:179758007-179843612	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 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	chr2:179730800-179770800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:179733200-179779200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:179735400-179760800	Weak transcription	Right Ventricle	heart
7	chr2:179748000-179760800	Weak transcription	Right Atrium	heart
8	chr2:179748600-179761400	Weak transcription	Primary B cells from cord blood	blood
9	chr2:179749600-179772800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:179749800-179785200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:179751200-179775200	Weak transcription	Pancreas	Pancrea
12	chr2:179753400-179760800	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:179753600-179768600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:179753600-179768600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:179755000-179761800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:179756200-179761000	Weak transcription	Left Ventricle	heart
17	chr2:179756400-179759200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr2:179756800-179759800	Weak transcription	HSMM	muscle
19	chr2:179757000-179760000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:179757800-179760400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:179758400-179759200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:179758800-179759800	Weak transcription	Fetal Heart	heart
23	chr2:179759000-179759600	Enhancers	Primary T cells from cord blood	blood
24	chr2:179759000-179759800	Weak transcription	HSMMtube	muscle
25	chr2:179759000-179760800	Weak transcription	Psoas Muscle	Psoas
26	chr2:179759000-179761000	Weak transcription	Aorta	Aorta

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