Variant report

Variant	rs12282614
Chromosome Location	chr11:10388114-10388115
allele	C/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	chr11:10386948..10389618-chr11:10548931..10550631,2	K562	blood:
2	chr11:9779526..9781252-chr11:10386817..10389355,2	K562	blood:
3	chr11:10326162..10327746-chr11:10386723..10389027,2	MCF-7	breast:
4	chr11:10326248..10329160-chr11:10385619..10388445,3	MCF-7	breast:
5	chr11:10387938..10388816-chr11:10427798..10428324,2	MCF-7	breast:
6	chr11:10229694..10230273-chr11:10387954..10388668,2	MCF-7	breast:
7	chr11:10327968..10329766-chr11:10387274..10390130,2	K562	blood:
8	chr11:9779694..9780301-chr11:10387974..10388849,2	K562	blood:
9	chr11:10388047..10388889-chr11:10408886..10409883,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000246273	Chromatin interaction
ENSG00000245522	Chromatin interaction
ENSG00000148926	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11821846	0.87[EUR][1000 genomes]
rs4243912	1.00[ASN][1000 genomes]
rs4277106	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484216	1.00[ASN][1000 genomes]
rs7122550	1.00[ASN][1000 genomes]
rs7123491	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403965	1.00[ASN][1000 genomes]
rs73403986	1.00[ASN][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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10381000-10388200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:10387200-10388200	Weak transcription	Small Intestine	intestine
3	chr11:10387200-10388600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr11:10387200-10388600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:10387400-10390000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:10387600-10388200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr11:10387600-10388400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:10387600-10388400	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr11:10387600-10388600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr11:10387600-10388600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr11:10387600-10388600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:10387600-10388600	Enhancers	NHEK	skin
13	chr11:10387800-10388200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:10387800-10388200	Enhancers	Primary hematopoietic stem cells	blood
15	chr11:10387800-10388400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:10387800-10388400	Enhancers	Fetal Heart	heart
17	chr11:10387800-10388400	Enhancers	HMEC	breast
18	chr11:10387800-10388400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr11:10387800-10388600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr11:10387800-10388600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:10387800-10388600	Enhancers	Adipose Nuclei	Adipose
22	chr11:10387800-10388600	Enhancers	Fetal Stomach	stomach
23	chr11:10387800-10388600	Enhancers	HUVEC	blood vessel
24	chr11:10387800-10388800	Enhancers	Fetal Intestine Small	intestine
25	chr11:10387800-10388800	Enhancers	Fetal Lung	lung
26	chr11:10387800-10388800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr11:10387800-10388800	Enhancers	HSMMtube	muscle
28	chr11:10387800-10389000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:10387800-10389000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr11:10387800-10389000	Enhancers	Colon Smooth Muscle	Colon
31	chr11:10387800-10389000	Enhancers	NHDF-Ad	bronchial
32	chr11:10387800-10389000	Enhancers	NHLF	lung
33	chr11:10388000-10388200	Enhancers	Stomach Smooth Muscle	stomach
34	chr11:10388000-10388400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:10388000-10388400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:10388000-10388400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr11:10388000-10388400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr11:10388000-10388400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:10388000-10388400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:10388000-10388400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:10388000-10388400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:10388000-10388400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:10388000-10388400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:10388000-10388400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:10388000-10388400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:10388000-10388400	Flanking Active TSS	Liver	Liver
47	chr11:10388000-10388400	Enhancers	Fetal Kidney	kidney
48	chr11:10388000-10388400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr11:10388000-10388400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr11:10388000-10388400	Flanking Active TSS	GM12878-XiMat	blood

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