Variant report

Variant	rs61280272
Chromosome Location	chr11:102115294-102115295
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10791570	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10895272	0.88[ASN][1000 genomes]
rs10895273	0.88[ASN][1000 genomes]
rs10895274	0.88[ASN][1000 genomes]
rs10895277	0.87[ASN][1000 genomes]
rs10895278	0.89[ASN][1000 genomes]
rs10895280	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10895282	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10895283	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11225165	0.88[ASN][1000 genomes]
rs11225167	0.89[ASN][1000 genomes]
rs11225170	0.88[ASN][1000 genomes]
rs11225174	0.89[ASN][1000 genomes]
rs11225177	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11608234	0.86[ASN][1000 genomes]
rs12223991	0.87[ASN][1000 genomes]
rs12420287	0.86[ASN][1000 genomes]
rs12421242	0.86[ASN][1000 genomes]
rs12786272	0.89[ASN][1000 genomes]
rs12790399	0.89[ASN][1000 genomes]
rs12795624	0.87[ASN][1000 genomes]
rs12807220	0.90[ASN][1000 genomes]
rs17097547	0.89[ASN][1000 genomes]
rs17097560	0.89[ASN][1000 genomes]
rs1820455	0.89[ASN][1000 genomes]
rs2282652	0.89[ASN][1000 genomes]
rs57027482	0.89[ASN][1000 genomes]
rs57592482	0.83[EUR][1000 genomes]
rs58751289	0.89[ASN][1000 genomes]
rs60306966	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7112802	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7122907	0.89[ASN][1000 genomes]
rs718891	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7927668	0.83[EUR][1000 genomes]
rs7942061	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv832251	chr11:102012295-102181744	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1043388	chr11:102017719-102172857	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102081200-102118600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:102095200-102118600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr11:102097800-102119600	Weak transcription	Right Atrium	heart
4	chr11:102098400-102118600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:102102000-102115400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:102104600-102118600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:102105000-102118600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:102105200-102118600	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:102105200-102118600	Weak transcription	Fetal Stomach	stomach
10	chr11:102105200-102118600	Weak transcription	Left Ventricle	heart
11	chr11:102105400-102115400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:102106000-102115800	Weak transcription	Aorta	Aorta
13	chr11:102106000-102118600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:102106200-102118600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:102106200-102118600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:102106400-102118600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:102108000-102115400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:102110200-102116400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:102110200-102118600	Weak transcription	Fetal Intestine Large	intestine
20	chr11:102111200-102116200	Enhancers	HepG2	liver
21	chr11:102111600-102117200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:102112000-102115600	Weak transcription	HSMMtube	muscle
23	chr11:102112200-102115400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:102112200-102115400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:102112200-102115400	Weak transcription	NH-A	brain
26	chr11:102112200-102115600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:102113200-102118600	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:102113400-102115400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:102113400-102115400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr11:102113400-102115400	Weak transcription	Esophagus	oesophagus
31	chr11:102113400-102118600	Weak transcription	Fetal Lung	lung
32	chr11:102113400-102124200	Weak transcription	Pancreas	Pancrea
33	chr11:102113600-102115400	Weak transcription	Osteobl	bone
34	chr11:102113600-102118600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr11:102113600-102118600	Weak transcription	Fetal Intestine Small	intestine
36	chr11:102113600-102118600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:102113800-102115400	Weak transcription	HSMM	muscle
38	chr11:102113800-102115400	Weak transcription	NHDF-Ad	bronchial
39	chr11:102113800-102115400	Weak transcription	NHLF	lung
40	chr11:102113800-102115600	Weak transcription	A549	lung
41	chr11:102113800-102118600	Weak transcription	Adipose Nuclei	Adipose
42	chr11:102114000-102115400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:102114000-102115400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:102114000-102115400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:102114400-102115800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:102114400-102116800	Enhancers	HMEC	breast
47	chr11:102114600-102115600	Enhancers	NHEK	skin
48	chr11:102114600-102117000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:102114800-102117200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:102115200-102115400	Enhancers	Hela-S3	cervix

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