Variant report

Variant	rs11035765
Chromosome Location	chr11:5143309-5143310
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	chr11:5140099..5148928-chr11:5149317..5155604,15	K562	blood:

Variant related genes	Relation type
ENSG00000171944	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10500616	1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs10500617	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs10768545	0.90[MEX][hapmap]
rs10768550	0.91[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs10768575	1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10837295	0.90[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs10837329	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10837334	0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10837335	1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11035684	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11035710	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11035736	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11035740	0.93[ASN][1000 genomes]
rs11035743	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11035774	0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11530045	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12221996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12360617	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12364567	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12420900	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1463380	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1463381	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2472527	0.90[JPT][hapmap];0.85[MEX][hapmap]
rs2472530	0.90[JPT][hapmap];0.85[MEX][hapmap]
rs2499947	0.80[ASN][1000 genomes]
rs2499948	0.87[CHD][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap]
rs2499949	0.90[JPT][hapmap]
rs2499951	0.90[JPT][hapmap]
rs4278501	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4294557	1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4370933	1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4617575	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61880360	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7350513	0.90[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.90[ASN][1000 genomes]
rs7931931	0.89[ASN][1000 genomes]

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	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv1046693	chr11:4958462-5177455	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv540938	chr11:4958462-5177455	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	esv2760169	chr11:4961518-5233821	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv553219	chr11:5026200-5214413	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv896920	chr11:5068137-5221825	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv896923	chr11:5091882-5199208	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv896924	chr11:5098714-5221825	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv553222	chr11:5102476-5151516	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv553223	chr11:5116128-5149332	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv467668	chr11:5138733-5207389	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
12	nsv553224	chr11:5138733-5207389	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
13	nsv896925	chr11:5140977-5221825	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
14	nsv896926	chr11:5143309-5170510	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11035765	MUC2	cis	cerebellum	SCAN
rs11035765	MRPL23	cis	parietal	SCAN
rs11035765	SYT8	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5137400-5144000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:5139000-5144800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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