Variant report

Variant	rs62194781
Chromosome Location	chr2:231455653-231455654
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2042839	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042840	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62194773	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62194774	0.83[AFR][1000 genomes]
rs62194775	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62194776	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62194778	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62194779	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62194780	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62194782	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62194783	0.85[AMR][1000 genomes];0.97[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	nsv875953	chr2:231415189-231457819	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875955	chr2:231440555-231500805	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231448200-231456000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr2:231448400-231456600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:231451400-231456000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:231451400-231456400	Weak transcription	Primary T cells from cord blood	blood
5	chr2:231453600-231458000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:231453600-231461400	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:231454000-231457200	Enhancers	Primary B cells from cord blood	blood
8	chr2:231454400-231456600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:231454400-231459600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:231454600-231455800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:231454600-231456000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:231454600-231456400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:231454600-231456600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:231454600-231456800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:231454800-231456000	Weak transcription	Spleen	Spleen
16	chr2:231455000-231456000	Enhancers	GM12878-XiMat	blood
17	chr2:231455000-231456600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:231455200-231456400	Weak transcription	Primary T helper naive cells from peripheral 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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