Variant report

Variant	rs8020831
Chromosome Location	chr14:64214837-64214838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64106598..64108226-chr14:64214282..64217153,2	MCF-7	breast:
2	chr14:64214830..64217305-chr14:64219709..64221994,2	K562	blood:

Variant related genes	Relation type
ENSG00000140006	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10498511	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs11158502	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs11158503	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs11158506	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs11844499	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11845405	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845765	1.00[GIH][hapmap]
rs11847188	1.00[JPT][hapmap]
rs11847332	1.00[JPT][hapmap]
rs11850575	0.95[EUR][1000 genomes]
rs17101346	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17101348	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs17101355	1.00[CEU][hapmap]
rs17101371	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17101374	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs2031940	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2031941	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3742622	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs4346121	0.82[EUR][1000 genomes]
rs55683626	0.84[EUR][1000 genomes]
rs55706628	1.00[ASN][1000 genomes]
rs57382236	1.00[ASN][1000 genomes]
rs6573529	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7141460	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7142737	1.00[CEU][hapmap]
rs7144490	1.00[CEU][hapmap]
rs7145740	1.00[CEU][hapmap]
rs7148755	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs7149625	1.00[JPT][hapmap]
rs7154057	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7154718	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs7154795	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7155351	1.00[JPT][hapmap]
rs7156219	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7156468	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs7157815	0.82[EUR][1000 genomes]
rs73267621	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73267644	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8003077	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8003101	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs8003314	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs8006901	0.82[EUR][1000 genomes]
rs8012866	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8017835	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs8018034	0.81[EUR][1000 genomes]
rs8019280	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs8020893	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1048645	chr14:64057327-64283872	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1037824	chr14:64119493-64254025	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv85616	chr14:64214161-64214979	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64211800-64215400	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:64212000-64215600	Enhancers	Primary B cells from cord blood	blood
3	chr14:64212800-64215600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr14:64213000-64220800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:64213200-64215400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:64213400-64215400	Weak transcription	A549	lung
7	chr14:64213400-64215400	Weak transcription	Hela-S3	cervix
8	chr14:64213400-64219400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:64213400-64219800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:64213800-64215800	Flanking Active TSS	GM12878-XiMat	blood
11	chr14:64214200-64215200	Weak transcription	Placenta	Placenta
12	chr14:64214200-64215400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr14:64214800-64215000	Enhancers	HepG2	liver
14	chr14:64214800-64215200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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