Variant report

Variant	rs2813449
Chromosome Location	chr10:1564771-1564772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:1564719-1564777	GM19239	blood:	n/a	n/a
2	POLR2A	chr10:1564726-1564808	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ADARB2-AS1	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10751803	0.84[JPT][hapmap]
rs10794756	0.84[JPT][hapmap];0.80[MEX][hapmap]
rs10794757	0.84[JPT][hapmap]
rs10903477	0.84[JPT][hapmap];0.80[MEX][hapmap]
rs10903478	0.84[JPT][hapmap];0.80[MEX][hapmap]
rs10903479	0.88[JPT][hapmap]
rs10903481	0.84[JPT][hapmap]
rs11250608	0.84[JPT][hapmap]
rs11250609	0.84[JPT][hapmap]
rs11250610	0.84[JPT][hapmap]
rs11250614	0.88[JPT][hapmap]
rs11250615	0.93[JPT][hapmap]
rs2138691	0.84[JPT][hapmap]
rs2676733	0.84[JPT][hapmap]
rs2676776	0.84[JPT][hapmap];0.80[MEX][hapmap]
rs2813451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2813452	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap]
rs2813454	0.84[JPT][hapmap]
rs4253993	0.83[JPT][hapmap];0.80[MEX][hapmap]
rs4880858	0.95[JPT][hapmap]
rs4880864	0.84[JPT][hapmap]
rs4880867	0.88[JPT][hapmap]
rs7095474	0.84[JPT][hapmap]
rs7099162	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530117	chr10:945438-1729634	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv817532	chr10:964660-1885945	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1041498	chr10:1117200-1760190	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1052682	chr10:1162925-1675641	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1043944	chr10:1168095-1626019	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv540411	chr10:1168095-1626019	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1046041	chr10:1195214-2189155	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1037054	chr10:1232041-1865296	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv540413	chr10:1232041-1865296	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv549769	chr10:1244020-1764966	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv549786	chr10:1293100-1904598	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv894736	chr10:1513349-1672408	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1054555	chr10:1558145-1965145	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv894737	chr10:1560338-1692796	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr10:1551600-1566800	Weak transcription	Fetal Brain Male	brain
2	chr10:1563000-1565600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:1563200-1565200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr10:1563400-1565000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr10:1563400-1565200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr10:1563400-1565400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr10:1563400-1565600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr10:1563400-1565800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr10:1563800-1565800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:1564000-1565800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr10:1564200-1565200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr10:1564200-1565600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:1564400-1565200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:1564400-1565800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr10:1564600-1564800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:1564600-1565200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:1564600-1565200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:1564600-1565200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:1564600-1565200	Enhancers	Pancreas	Pancrea

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