Variant report

Variant	rs2633545
Chromosome Location	chr3:112146586-112146587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11920132	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11920218	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11924370	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13090760	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473485	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1601849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683888	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683893	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2683894	0.82[EUR][1000 genomes]
rs953716	0.87[EUR][1000 genomes]
rs9847446	0.95[EUR][1000 genomes]
rs9880366	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591294	chr3:112091220-112208750	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1010208	chr3:112098542-112227212	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1003936	chr3:112125931-112274613	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv998309	chr3:112130290-112278804	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv3331778	chr3:112134311-112164058	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv591300	chr3:112144026-112270857	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112137000-112150400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:112137200-112147200	Weak transcription	Placenta	Placenta
3	chr3:112144400-112150400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:112145000-112146800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:112145400-112151000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:112145600-112150400	Weak transcription	GM12878-XiMat	blood
7	chr3:112145600-112150600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:112145600-112150800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:112146000-112146800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr3:112146200-112149800	Weak transcription	Primary B cells from cord blood	blood
11	chr3:112146400-112146600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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