Variant report

Variant	rs11764116
Chromosome Location	chr7:18800413-18800414
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1178121	0.81[CEU][hapmap]
rs1178122	0.95[CEU][hapmap];0.82[MEX][hapmap]
rs1178123	0.95[CEU][hapmap]
rs1178124	0.95[CEU][hapmap];0.83[TSI][hapmap]
rs1178127	0.84[TSI][hapmap]
rs1178128	0.95[CEU][hapmap];0.90[TSI][hapmap]
rs1178129	0.95[CEU][hapmap];0.90[TSI][hapmap]
rs1178130	0.90[CEU][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap]
rs1178131	0.90[CEU][hapmap]
rs1178132	0.95[CEU][hapmap];0.93[TSI][hapmap]
rs1178133	0.95[CEU][hapmap]
rs1178142	0.95[CEU][hapmap];0.83[GIH][hapmap];0.88[EUR][1000 genomes]
rs1178143	0.84[EUR][1000 genomes]
rs1178147	0.81[EUR][1000 genomes]
rs1178148	0.90[CEU][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs1178149	0.82[EUR][1000 genomes]
rs1178150	0.91[EUR][1000 genomes]
rs1178151	0.83[EUR][1000 genomes]
rs1178152	0.91[EUR][1000 genomes]
rs1178153	0.91[EUR][1000 genomes]
rs1178154	0.84[EUR][1000 genomes]
rs1178155	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs1178156	0.90[CEU][hapmap];0.85[CHB][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1178158	0.80[ASN][1000 genomes]
rs1178159	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1178160	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1178162	0.95[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1178163	0.81[CEU][hapmap]
rs1178164	0.95[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1178165	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1178166	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1178168	0.81[CEU][hapmap]
rs1178169	0.81[CEU][hapmap]
rs1178170	0.81[CEU][hapmap]
rs1178171	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1178172	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1178174	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1178176	0.95[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1178178	0.81[CEU][hapmap]
rs1178179	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17139840	0.81[CEU][hapmap]
rs17139842	0.81[CEU][hapmap]
rs212672	0.86[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs212674	0.87[EUR][1000 genomes]
rs727851	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs894978	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830917	chr7:18612436-18817712	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv531368	chr7:18677922-18836920	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv887814	chr7:18751998-18886177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2757218	chr7:18767714-18801340	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2759516	chr7:18767714-18801340	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Ulcerative colitis	20848476	GWAS catalog

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18765200-18810600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:18787400-18801800	Weak transcription	Psoas Muscle	Psoas
3	chr7:18787800-18810800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr7:18788800-18801800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr7:18789000-18807800	Weak transcription	Aorta	Aorta
6	chr7:18789000-18808600	Weak transcription	Left Ventricle	heart
7	chr7:18790600-18835000	Weak transcription	Primary B cells from cord blood	blood
8	chr7:18794600-18801600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:18794800-18801600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:18797400-18801600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:18797400-18801600	Weak transcription	HSMM	muscle
12	chr7:18797400-18801800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:18797600-18801600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:18797800-18800800	Weak transcription	NHDF-Ad	bronchial
15	chr7:18797800-18801600	Weak transcription	Osteobl	bone
16	chr7:18797800-18807800	Weak transcription	HSMMtube	muscle
17	chr7:18799800-18802200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:18800400-18802400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:18800400-18802400	Enhancers	NH-A	brain

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