Variant report

Variant	rs12272513
Chromosome Location	chr11:75164859-75164860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75159277..75162323-chr11:75164313..75168722,5	K562	blood:
2	chr11:75164200..75167156-chr11:75173747..75176083,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158555	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11236424	1.00[AMR][1000 genomes]
rs11236425	1.00[AMR][1000 genomes]
rs11236426	1.00[AMR][1000 genomes]
rs11236443	1.00[AMR][1000 genomes]
rs11236446	1.00[AMR][1000 genomes]
rs12274327	1.00[AMR][1000 genomes]
rs12275690	1.00[AMR][1000 genomes]
rs12277069	1.00[AMR][1000 genomes]
rs12277708	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281974	1.00[AMR][1000 genomes]
rs12286009	1.00[AMR][1000 genomes]
rs12288089	1.00[AMR][1000 genomes]
rs12289922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2276443	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75141800-75165400	Weak transcription	Right Atrium	heart
2	chr11:75142000-75165200	Weak transcription	Ovary	ovary
3	chr11:75144200-75165400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:75144200-75186600	Weak transcription	Gastric	stomach
5	chr11:75144400-75179800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:75144600-75174000	Weak transcription	Liver	Liver
7	chr11:75145000-75167800	Strong transcription	Placenta	Placenta
8	chr11:75145200-75165200	Weak transcription	A549	lung
9	chr11:75145200-75186200	Weak transcription	Primary T cells from cord blood	blood
10	chr11:75145200-75186400	Strong transcription	Fetal Intestine Small	intestine
11	chr11:75146400-75173000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:75147800-75186000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr11:75148200-75186000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:75150400-75172600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:75153400-75168000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:75153600-75167200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:75153800-75176600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:75154400-75165400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:75154400-75165400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr11:75159000-75172800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:75160600-75167200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:75160600-75173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:75161600-75166200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:75161600-75176600	Weak transcription	Right Ventricle	heart
25	chr11:75162200-75171800	Weak transcription	NHDF-Ad	bronchial
26	chr11:75162600-75165200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:75162600-75166200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:75162600-75166800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:75162600-75172400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:75162800-75185000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr11:75163400-75165000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:75163800-75167200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr11:75163800-75186200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr11:75164000-75165200	Weak transcription	Adipose Nuclei	Adipose
35	chr11:75164000-75165400	Weak transcription	Pancreas	Pancrea
36	chr11:75164000-75166000	Weak transcription	Spleen	Spleen
37	chr11:75164000-75174000	Weak transcription	Lung	lung
38	chr11:75164400-75165200	Weak transcription	HepG2	liver
39	chr11:75164400-75165200	Weak transcription	HSMMtube	muscle
40	chr11:75164600-75165400	Weak transcription	Fetal Intestine Large	intestine
41	chr11:75164600-75166000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:75164600-75166200	Enhancers	Osteobl	bone
43	chr11:75164800-75166200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:75164800-75166400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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