Variant report

Variant	rs12270342
Chromosome Location	chr11:62618180-62618181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62597102..62625754-chr11:62640222..62672995,305	MCF-7	breast:
2	chr11:62565367..62576307-chr11:62617328..62626616,39	K562	blood:
3	chr11:62522808..62524662-chr11:62616600..62619424,2	K562	blood:
4	chr11:62526982..62529782-chr11:62617865..62620476,3	K562	blood:
5	chr11:62552943..62561747-chr11:62616572..62625876,31	K562	blood:
6	chr11:62614063..62631836-chr11:62641578..62658963,131	K562	blood:
7	chr11:62439236..62441390-chr11:62617732..62619702,2	MCF-7	breast:
8	chr11:62617692..62619701-chr20:49406192..49407943,2	MCF-7	breast:
9	chr11:62617919..62620459-chr4:103747203..103749660,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269463	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000168002	Chromatin interaction
ENSG00000246560	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000168569	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000109332	Chromatin interaction
ENSG00000269176	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11231220	1.00[AMR][1000 genomes]
rs11231261	0.89[AFR][1000 genomes]
rs12288417	1.00[AMR][1000 genomes]
rs12290152	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292281	0.88[LWK][hapmap];0.96[MKK][hapmap];1.00[AMR][1000 genomes]
rs12295052	0.88[LWK][hapmap];0.92[MKK][hapmap];1.00[AMR][1000 genomes]
rs12295516	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28400288	1.00[AMR][1000 genomes]
rs56994557	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58003814	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58505493	1.00[AMR][1000 genomes]
rs58792209	1.00[AMR][1000 genomes]
rs59143369	1.00[AMR][1000 genomes]
rs61088491	1.00[AMR][1000 genomes]
rs73483955	1.00[AMR][1000 genomes]
rs73483965	1.00[AMR][1000 genomes]
rs73483978	1.00[AMR][1000 genomes]
rs73485621	1.00[AMR][1000 genomes]
rs73485634	1.00[AMR][1000 genomes]
rs73485689	1.00[AMR][1000 genomes]
rs73487820	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487823	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487868	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73502144	1.00[AMR][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	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv508636	chr11:62547114-62644458	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1195 gene(s)	inside rSNPs	diseases
5	nsv1051308	chr11:62564713-62673136	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
6	nsv541058	chr11:62564713-62673136	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
7	nsv1041770	chr11:62610353-62871767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	263 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62607800-62618800	Weak transcription	Ovary	ovary
2	chr11:62609800-62618800	Weak transcription	Spleen	Spleen
3	chr11:62609800-62619400	Weak transcription	Gastric	stomach
4	chr11:62610000-62619000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:62610000-62620800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:62610200-62618400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:62610200-62618600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:62610200-62618600	Weak transcription	Lung	lung
9	chr11:62610200-62619000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:62610200-62619000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:62610200-62619000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:62610200-62619000	Weak transcription	Aorta	Aorta
13	chr11:62610200-62619000	Weak transcription	Brain Angular Gyrus	brain
14	chr11:62610200-62619000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:62610200-62619000	Weak transcription	Brain Substantia Nigra	brain
16	chr11:62610200-62619000	Weak transcription	Pancreas	Pancrea
17	chr11:62610200-62619000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:62610200-62619000	Weak transcription	Right Ventricle	heart
19	chr11:62610200-62619000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:62610200-62619200	Weak transcription	HUVEC	blood vessel
21	chr11:62610200-62619200	Weak transcription	NH-A	brain
22	chr11:62610200-62619600	Weak transcription	Colonic Mucosa	Colon
23	chr11:62610400-62618600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:62610400-62618600	Weak transcription	Brain Germinal Matrix	brain
25	chr11:62610400-62618600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:62610400-62618800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:62610400-62618800	Weak transcription	Adipose Nuclei	Adipose
28	chr11:62610400-62618800	Weak transcription	Brain Anterior Caudate	brain
29	chr11:62610400-62618800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:62610400-62618800	Weak transcription	Fetal Brain Female	brain
31	chr11:62610400-62618800	Weak transcription	Hela-S3	cervix
32	chr11:62610400-62618800	Weak transcription	NHDF-Ad	bronchial
33	chr11:62610400-62619000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr11:62610400-62619000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:62610400-62619000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr11:62610400-62619000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr11:62610400-62619000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:62610400-62619000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:62610400-62619000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:62610400-62619000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:62610400-62619000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:62610400-62619000	Weak transcription	Liver	Liver
43	chr11:62610400-62619000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:62610400-62619000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:62610400-62619000	Weak transcription	Small Intestine	intestine
46	chr11:62610400-62619000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:62610400-62619000	Weak transcription	NHLF	lung
48	chr11:62610400-62619200	Weak transcription	HSMM	muscle
49	chr11:62610400-62619200	Weak transcription	HSMMtube	muscle
50	chr11:62610400-62619200	Weak transcription	Osteobl	bone

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