Variant report

Variant	rs2683890
Chromosome Location	chr3:112144295-112144296
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1386897	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1586508	1.00[ASN][1000 genomes]
rs1872986	0.84[EUR][1000 genomes]
rs1872987	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1996724	1.00[ASN][1000 genomes]
rs2029318	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2087259	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2129856	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244035	1.00[ASN][1000 genomes]
rs2263365	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633541	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633554	1.00[ASN][1000 genomes]
rs2633567	1.00[ASN][1000 genomes]
rs2633570	1.00[ASN][1000 genomes]
rs2633576	0.83[EUR][1000 genomes]
rs2633591	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633595	1.00[ASN][1000 genomes]
rs2633601	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633606	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633607	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633608	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683896	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683897	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683898	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683901	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683902	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683903	0.93[EUR][1000 genomes]
rs2683904	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2931761	1.00[ASN][1000 genomes]
rs2971206	1.00[ASN][1000 genomes]
rs6799765	1.00[ASN][1000 genomes]
rs72952469	1.00[ASN][1000 genomes]
rs73227502	0.81[EUR][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:19 , 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	chr3:112138200-112145000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:112142200-112145000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:112142400-112145600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:112142600-112145000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:112142600-112145600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:112143000-112146200	Enhancers	Primary B cells from cord blood	blood
9	chr3:112143200-112144400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:112143200-112144400	Enhancers	Primary hematopoietic stem cells	blood
11	chr3:112143200-112144400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:112143400-112144800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:112143400-112145000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:112143600-112144800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr3:112143600-112145200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:112144000-112144600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr3:112144200-112145400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr3:112144200-112145600	Enhancers	GM12878-XiMat	blood
19	chr3:112144200-112146400	Enhancers	Primary B cells from peripheral blood	blood

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