Variant report

Variant	rs11242731
Chromosome Location	chr6:2034472-2034473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12206139	0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12212324	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13218855	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1802	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2076916	0.96[CEU][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2875725	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35546016	0.82[ASN][1000 genomes]
rs4959164	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4959620	0.82[ASN][1000 genomes]
rs4959629	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs501038	0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs538391	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs635234	0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6596868	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs668674	0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6909371	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6910252	0.87[CEU][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6922565	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6938640	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7751738	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs7771247	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs7772545	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs9328080	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9378669	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9391942	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9392349	0.82[ASN][1000 genomes]
rs9392351	0.87[CEU][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9392366	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs9405537	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9405545	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs9503076	0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9503080	0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription 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	25 gene(s)	inside rSNPs	diseases
3	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription 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	71 gene(s)	inside rSNPs	diseases
4	nsv1032727	chr6:1900622-2064690	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv538095	chr6:1900622-2064690	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv883386	chr6:1910108-2122454	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv981098	chr6:2008599-2102267	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv527735	chr6:2028237-2097654	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv522608	chr6:2032259-2203888	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2006200-2034800	Weak transcription	HepG2	liver
2	chr6:2019800-2040000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:2022400-2035000	Weak transcription	Gastric	stomach
4	chr6:2022400-2042800	Weak transcription	Right Atrium	heart
5	chr6:2022400-2055600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:2022400-2080600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:2027000-2035000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:2029200-2037000	Weak transcription	Primary T cells from cord blood	blood
9	chr6:2029800-2040400	Weak transcription	Stomach Mucosa	stomach
10	chr6:2030000-2053600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:2030400-2035000	Weak transcription	Pancreas	Pancrea
12	chr6:2030600-2034800	Weak transcription	Fetal Kidney	kidney
13	chr6:2030800-2038400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:2031200-2039000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:2031800-2041800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:2032000-2036600	Weak transcription	Brain Anterior Caudate	brain
17	chr6:2032000-2036600	Weak transcription	Thymus	Thymus
18	chr6:2032000-2037000	Weak transcription	Fetal Thymus	thymus
19	chr6:2032200-2036800	Weak transcription	Dnd41	blood
20	chr6:2032600-2037600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:2032600-2038000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:2032600-2043400	Weak transcription	HSMM	muscle
23	chr6:2033800-2034800	Enhancers	Liver	Liver
24	chr6:2034200-2035200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:2034200-2044400	Weak transcription	Primary B cells from cord blood	blood
26	chr6:2034400-2035000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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