Variant report

Variant	rs11676036
Chromosome Location	chr2:48501201-48501202
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10153773	0.81[JPT][hapmap]
rs10199431	0.83[JPT][hapmap]
rs10495951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs10495952	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs11125164	0.92[CEU][hapmap]
rs11679523	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.80[EUR][1000 genomes]
rs11680916	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.80[EUR][1000 genomes]
rs11681409	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11682633	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11684517	0.83[EUR][1000 genomes]
rs11685861	0.95[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs11686007	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11687708	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11688481	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11690690	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs11690748	1.00[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs11690845	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs17037289	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs17037298	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs17397449	1.00[YRI][hapmap]
rs17855177	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs1876812	0.91[ASN][1000 genomes]
rs4344965	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs4411759	0.81[JPT][hapmap]
rs4547573	0.83[JPT][hapmap]
rs55660911	0.80[EUR][1000 genomes]
rs55761545	0.85[ASN][1000 genomes]
rs55788229	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57131168	0.85[ASN][1000 genomes]
rs57537506	0.82[ASN][1000 genomes]
rs58012056	0.80[ASN][1000 genomes]
rs59697023	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60815228	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6545036	0.91[CHB][hapmap]
rs6705802	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs6718068	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs6743757	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs6745580	0.82[ASN][1000 genomes]
rs72818478	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72818488	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72818491	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72818494	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72818502	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72820403	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72820404	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72820409	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72820411	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72820415	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72820416	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72820418	0.81[ASN][1000 genomes]
rs72820420	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72820422	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72820423	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72820424	0.80[EUR][1000 genomes]
rs7562069	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs7562816	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs7566239	0.96[CHB][hapmap];0.88[JPT][hapmap]
rs7576964	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs7577237	1.00[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs7579932	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs7600794	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs7606104	0.95[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]

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	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription 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	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
rs11676036	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48497600-48502400	Weak transcription	Psoas Muscle	Psoas
2	chr2:48497800-48503600	Weak transcription	Liver	Liver
3	chr2:48498000-48503800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:48498600-48501600	Enhancers	GM12878-XiMat	blood
5	chr2:48500600-48501800	Enhancers	K562	blood
6	chr2:48501200-48501600	Enhancers	NHEK	skin

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