Variant report

Variant	rs11741864
Chromosome Location	chr5:40915039-40915040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:40914942-40915531	IMR90	lung:	n/a	chr5:40915435-40915446
2	CTCF	chr5:40914986-40915046	ProgFib	skin:	n/a	n/a
3	CEBPB	chr5:40914987-40915468	Hela-S3	cervix:	n/a	chr5:40915435-40915446

Variant related genes	Relation type
RNU7-161P	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10056097	0.81[EUR][1000 genomes]
rs1078376	1.00[ASN][1000 genomes]
rs11739984	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742894	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12153063	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12187430	1.00[ASN][1000 genomes]
rs12658133	1.00[YRI][hapmap]
rs1376179	1.00[ASN][1000 genomes]
rs34153616	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56095030	1.00[ASN][1000 genomes]
rs60001990	1.00[ASN][1000 genomes]
rs60714178	1.00[ASN][1000 genomes]
rs62357602	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357607	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357609	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357613	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357614	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357615	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357644	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357645	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357646	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357647	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62358578	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088577	1.00[ASN][1000 genomes]
rs73750214	1.00[ASN][1000 genomes]
rs73750215	1.00[ASN][1000 genomes]
rs73750216	1.00[ASN][1000 genomes]
rs73750218	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40908800-40916000	Active TSS	Stomach Smooth Muscle	stomach
2	chr5:40909200-40916800	Active TSS	Right Atrium	heart
3	chr5:40910000-40915200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:40914400-40916000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr5:40914600-40915400	ZNF genes & repeats	Fetal Lung	lung
6	chr5:40914600-40916000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:40914600-40916600	Enhancers	Fetal Heart	heart
8	chr5:40914800-40915200	Active TSS	Osteobl	bone
9	chr5:40914800-40915400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:40914800-40915400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:40914800-40915600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr5:40914800-40915600	Active TSS	Right Ventricle	heart
13	chr5:40914800-40916000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:40914800-40916000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:40915000-40915200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:40915000-40915200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr5:40915000-40915400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:40915000-40915400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:40915000-40915400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr5:40915000-40915400	Enhancers	Gastric	stomach
21	chr5:40915000-40915400	Enhancers	Left Ventricle	heart
22	chr5:40915000-40915400	Flanking Active TSS	Ovary	ovary
23	chr5:40915000-40915600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:40915000-40915800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:40915000-40915800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
26	chr5:40915000-40915800	Active TSS	Duodenum Mucosa	Duodenum
27	chr5:40915000-40916000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:40915000-40916000	Enhancers	Liver	Liver
29	chr5:40915000-40916800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:40915000-40916800	Enhancers	HUES6 Cell Line	embryonic stem cell

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