Variant report

Variant	rs2133216
Chromosome Location	chr11:9291569-9291570
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	USF1	chr11:9291147-9291618	ECC-1	luminal epithelium:	n/a	chr11:9291366-9291377
2	USF1	chr11:9291086-9291601	ECC-1	luminal epithelium:	n/a	chr11:9291366-9291377
3	USF1	chr11:9291132-9291636	HCT-116	colon:	n/a	chr11:9291366-9291377

No.	Distal block	Cell Line	Cell type
1	chr11:9290328..9292720-chr11:9293368..9296005,3	K562	blood:
2	chr11:9282323..9285944-chr11:9290054..9293255,4	K562	blood:
3	chr11:9286168..9287841-chr11:9289987..9292577,2	K562	blood:
4	chr11:9283600..9286553-chr11:9290163..9293255,5	K562	blood:

Variant related genes	Relation type
DENND5A	TF binding region
ENSG00000184014	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10743104	0.86[ASN][1000 genomes]
rs10743105	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs10770002	0.97[ASN][1000 genomes]
rs10770003	0.97[ASN][1000 genomes]
rs10770004	0.97[ASN][1000 genomes]
rs10770006	0.95[CHB][hapmap];0.96[JPT][hapmap];0.96[ASN][1000 genomes]
rs10770008	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10770009	0.96[ASN][1000 genomes]
rs10770010	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10770013	0.86[ASN][1000 genomes]
rs10770016	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs10840196	0.97[ASN][1000 genomes]
rs10840199	0.96[ASN][1000 genomes]
rs10840200	0.96[ASN][1000 genomes]
rs10840204	0.83[ASN][1000 genomes]
rs10840205	0.83[ASN][1000 genomes]
rs10840207	0.82[ASN][1000 genomes]
rs11042227	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11042245	0.83[ASN][1000 genomes]
rs11042252	0.91[ASN][1000 genomes]
rs11042256	0.96[ASN][1000 genomes]
rs11042262	0.96[ASN][1000 genomes]
rs11042264	0.96[ASN][1000 genomes]
rs11042265	0.96[ASN][1000 genomes]
rs11042266	0.94[ASN][1000 genomes]
rs11042267	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs11042269	0.96[ASN][1000 genomes]
rs11042274	0.86[ASN][1000 genomes]
rs11500788	0.86[ASN][1000 genomes]
rs11602591	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11608172	0.83[AMR][1000 genomes]
rs12289113	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12295767	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12296016	0.86[AMR][1000 genomes]
rs12420463	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12574882	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12577661	0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes]
rs12796666	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12801814	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34446443	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34494849	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34716494	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34729888	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35381016	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35686957	0.96[ASN][1000 genomes]
rs35757766	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35955530	0.83[AMR][1000 genomes]
rs4325312	0.83[ASN][1000 genomes]
rs4343026	0.94[ASN][1000 genomes]
rs4369406	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs4447178	0.95[ASN][1000 genomes]
rs4570580	0.81[ASN][1000 genomes]
rs4601779	0.94[ASN][1000 genomes]
rs4641476	0.81[ASN][1000 genomes]
rs5014247	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs61875672	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61875673	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61877814	0.86[AMR][1000 genomes]
rs61877916	0.95[ASN][1000 genomes]
rs6486206	0.85[JPT][hapmap]
rs6486210	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6486231	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7101432	0.96[ASN][1000 genomes]
rs7104221	0.89[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs7112540	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs7114688	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs7116459	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7121013	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7123342	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs7124178	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71476818	0.97[ASN][1000 genomes]
rs7358313	0.95[ASN][1000 genomes]
rs7358392	0.88[ASN][1000 genomes]
rs7396439	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs7924664	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7951700	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7952508	0.92[ASN][1000 genomes]
rs952374	0.81[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs956517	0.87[YRI][hapmap]
rs9888193	0.89[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9888229	0.91[CHB][hapmap];0.95[JPT][hapmap]

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	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
7	nsv515891	chr11:9275898-9334961	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv7669	chr11:9290376-9335028	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9287400-9301600	Weak transcription	Esophagus	oesophagus
2	chr11:9287400-9302000	Weak transcription	Spleen	Spleen
3	chr11:9287400-9319600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:9287400-9332600	Weak transcription	HMEC	breast
5	chr11:9287400-9333000	Weak transcription	Gastric	stomach
6	chr11:9287600-9293800	Weak transcription	Left Ventricle	heart
7	chr11:9287600-9295400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:9287600-9296200	Weak transcription	Fetal Lung	lung
9	chr11:9287600-9296200	Weak transcription	Right Ventricle	heart
10	chr11:9287600-9299800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:9287600-9301600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:9287600-9301800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:9287600-9302000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:9287600-9302000	Weak transcription	HSMM	muscle
15	chr11:9287600-9302000	Weak transcription	Osteobl	bone
16	chr11:9287600-9304800	Weak transcription	NHEK	skin
17	chr11:9287600-9319200	Weak transcription	NHLF	lung
18	chr11:9287800-9295800	Weak transcription	Lung	lung
19	chr11:9287800-9296200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:9287800-9296400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:9287800-9298000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:9287800-9298000	Weak transcription	Placenta	Placenta
23	chr11:9287800-9298200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:9287800-9298800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:9287800-9300800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:9287800-9301600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:9287800-9301600	Weak transcription	Fetal Intestine Large	intestine
28	chr11:9287800-9301800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:9287800-9301800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr11:9287800-9302400	Weak transcription	Brain Germinal Matrix	brain
31	chr11:9287800-9305200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:9287800-9312200	Weak transcription	K562	blood
33	chr11:9287800-9328400	Weak transcription	A549	lung
34	chr11:9287800-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:9288000-9296200	Weak transcription	Brain Angular Gyrus	brain
36	chr11:9288000-9301800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:9288000-9320400	Weak transcription	Fetal Kidney	kidney
38	chr11:9288200-9321200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:9288600-9323200	Weak transcription	Pancreas	Pancrea
40	chr11:9289600-9311600	Weak transcription	HepG2	liver
41	chr11:9289600-9314400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr11:9289800-9301200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:9289800-9302000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:9290000-9301600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr11:9290000-9301600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:9290000-9301600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:9290000-9301800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:9290000-9302000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:9290000-9318000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:9291000-9291600	Enhancers	Hela-S3	cervix

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