Variant report

Variant	rs12296071
Chromosome Location	chr11:57060370-57060371
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57059403..57062089-chr11:57076689..57079376,2	MCF-7	breast:
2	chr11:57054342..57056926-chr11:57058891..57060493,2	MCF-7	breast:
3	chr11:57059679..57063275-chr11:57091400..57095134,4	MCF-7	breast:
4	chr11:57059068..57062878-chr11:57064900..57069732,5	K562	blood:
5	chr11:57058210..57060578-chr11:57077243..57079019,2	MCF-7	breast:
6	chr11:57059815..57061654-chr11:57084021..57086891,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149115	Chromatin interaction
ENSG00000254662	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1262323	1.00[AMR][1000 genomes]
rs2508769	1.00[AMR][1000 genomes]
rs2508771	1.00[AMR][1000 genomes]
rs2846040	1.00[AMR][1000 genomes]
rs2846043	1.00[AMR][1000 genomes]
rs2846045	1.00[AMR][1000 genomes]
rs2846047	1.00[AMR][1000 genomes]
rs2846048	1.00[AMR][1000 genomes]
rs2851724	1.00[AMR][1000 genomes]
rs481516	1.00[AMR][1000 genomes]
rs501160	1.00[AMR][1000 genomes]
rs546403	1.00[AMR][1000 genomes]
rs559168	1.00[AMR][1000 genomes]
rs639248	1.00[AMR][1000 genomes]
rs641550	1.00[AMR][1000 genomes]
rs652353	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57046000-57062000	Weak transcription	Right Atrium	heart
2	chr11:57051800-57062000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:57052200-57060400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:57052400-57078200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:57055200-57063400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:57056800-57060400	Weak transcription	Esophagus	oesophagus
7	chr11:57056800-57060400	Weak transcription	Placenta	Placenta
8	chr11:57056800-57062200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:57056800-57064200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:57056800-57065400	Weak transcription	Fetal Heart	heart
11	chr11:57057000-57060600	Weak transcription	Pancreas	Pancrea
12	chr11:57057000-57060800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:57057000-57061800	Weak transcription	Fetal Stomach	stomach
14	chr11:57057000-57062000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:57057000-57062200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:57057000-57064800	Weak transcription	Spleen	Spleen
17	chr11:57057000-57065200	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:57057000-57066400	Weak transcription	Colonic Mucosa	Colon
19	chr11:57057000-57066800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:57057200-57060400	Enhancers	HepG2	liver
21	chr11:57057200-57060600	Weak transcription	Adipose Nuclei	Adipose
22	chr11:57057200-57060600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:57057200-57060800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:57057200-57061000	Weak transcription	Lung	lung
25	chr11:57057200-57061800	Weak transcription	Fetal Lung	lung
26	chr11:57057200-57062000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:57057200-57062000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:57057200-57062400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:57057200-57065000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:57057200-57065200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:57057200-57066400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:57057200-57066800	Weak transcription	Brain Substantia Nigra	brain
33	chr11:57057400-57060400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:57057400-57060400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:57057400-57061800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:57057400-57061800	Weak transcription	Brain Anterior Caudate	brain
37	chr11:57057400-57062000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:57057400-57062000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr11:57057400-57063800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:57057400-57064400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:57057400-57065800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:57057400-57066600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:57057800-57060400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:57057800-57060400	Weak transcription	Stomach Mucosa	stomach
45	chr11:57057800-57061800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:57057800-57064200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:57057800-57064800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:57057800-57065600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:57057800-57066400	Weak transcription	Fetal Kidney	kidney
50	chr11:57058000-57060400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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