Variant report

Variant	rs11687708
Chromosome Location	chr2:48519357-48519358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48518431..48520376-chr2:48536529..48538446,2	K562	blood:
2	chr2:48514433..48519005-chr2:48519179..48522844,4	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10153773	0.81[JPT][hapmap]
rs10186237	0.81[JPT][hapmap]
rs10199431	0.81[JPT][hapmap]
rs10495951	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.84[TSI][hapmap]
rs10495952	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs11125164	0.92[CEU][hapmap]
rs11676036	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11679523	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];0.81[ASN][1000 genomes]
rs11680916	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs11681409	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11682044	0.86[JPT][hapmap]
rs11682633	0.86[ASN][1000 genomes]
rs11683639	0.80[GIH][hapmap];0.89[MEX][hapmap]
rs11685861	0.95[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs11686007	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11688481	1.00[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.86[ASN][1000 genomes]
rs11689622	0.90[GIH][hapmap];0.89[MEX][hapmap]
rs11690690	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs11690748	1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs11690845	1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs13401749	0.90[GIH][hapmap];0.89[MEX][hapmap]
rs13432998	0.81[JPT][hapmap]
rs17037289	0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap]
rs17037298	0.85[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];0.89[TSI][hapmap]
rs17855177	1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1876812	0.85[ASN][1000 genomes]
rs4344965	1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs4411759	0.81[JPT][hapmap]
rs55660911	0.81[ASN][1000 genomes]
rs55761545	0.88[ASN][1000 genomes]
rs55788229	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57131168	0.89[ASN][1000 genomes]
rs57537506	0.84[ASN][1000 genomes]
rs58012056	0.82[ASN][1000 genomes]
rs59697023	0.90[ASN][1000 genomes]
rs60815228	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62137015	0.81[ASN][1000 genomes]
rs6545027	0.86[JPT][hapmap]
rs6545036	0.91[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap]
rs6705802	1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs6718068	1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs6722246	0.81[ASN][1000 genomes]
rs6743757	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap]
rs6745580	0.84[ASN][1000 genomes]
rs72818478	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72818488	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72818491	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72818494	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72818502	0.86[ASN][1000 genomes]
rs72820403	0.86[ASN][1000 genomes]
rs72820404	0.84[ASN][1000 genomes]
rs72820409	0.84[ASN][1000 genomes]
rs72820411	0.85[ASN][1000 genomes]
rs72820415	0.85[ASN][1000 genomes]
rs72820416	0.85[ASN][1000 genomes]
rs72820418	0.83[ASN][1000 genomes]
rs72820420	0.84[ASN][1000 genomes]
rs72820422	0.83[ASN][1000 genomes]
rs72820423	0.82[ASN][1000 genomes]
rs72820427	0.81[ASN][1000 genomes]
rs72820437	0.81[ASN][1000 genomes]
rs72820439	0.81[ASN][1000 genomes]
rs72820445	0.81[ASN][1000 genomes]
rs7562069	1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs7562816	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7566239	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7573316	0.81[ASN][1000 genomes]
rs7576964	1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs7577237	1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs7579932	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7600794	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7606104	0.95[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.83[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	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11687708	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48506000-48539000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:48514000-48519400	Weak transcription	Primary T cells from cord blood	blood
3	chr2:48516200-48519400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:48516800-48522200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:48518600-48519600	Weak transcription	Lung	lung
6	chr2:48519200-48520200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:48519200-48520200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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