Variant report

Variant	rs34001547
Chromosome Location	chr2:190457146-190457147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10206897	0.95[EUR][1000 genomes]
rs10931425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1437883	0.95[EUR][1000 genomes]
rs1437884	0.93[EUR][1000 genomes]
rs17198990	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17199004	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17271183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811621	0.85[EUR][1000 genomes]
rs6434351	0.81[EUR][1000 genomes]
rs6706281	0.95[EUR][1000 genomes]
rs6715669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6715900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6718933	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6743001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71434664	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7603186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34001547	SLC40A1	cis	Thyroid	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190448400-190457400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:190455000-190461400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:190456000-190458600	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr2:190456000-190461000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:190456200-190458800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr2:190456200-190459800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr2:190456400-190458600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:190456400-190458600	Enhancers	Dnd41	blood
9	chr2:190456400-190458800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:190456600-190457600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:190456600-190458400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:190456600-190458400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:190456600-190458600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr2:190456600-190458800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:190456800-190457600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:190456800-190458000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:190457000-190457400	Flanking Active TSS	Primary T cells from cord blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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