Variant report

Variant	rs11042630
Chromosome Location	chr11:10129443-10129444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10129087..10131222-chr11:10133484..10136579,3	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10458929	0.82[ASN][1000 genomes]
rs10743129	0.95[ASN][1000 genomes]
rs10770092	0.81[ASN][1000 genomes]
rs10840348	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10840361	0.81[ASN][1000 genomes]
rs10840362	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10840370	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11042589	0.90[EUR][1000 genomes]
rs11042592	1.00[EUR][1000 genomes]
rs11042604	0.82[ASN][1000 genomes]
rs11042605	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11042606	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11042610	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11042624	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11042634	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11042635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11042645	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11042647	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11042669	1.00[EUR][1000 genomes]
rs11530489	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11530492	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12221716	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12575719	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1372807	0.83[ASN][1000 genomes]
rs1442732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16907368	0.90[EUR][1000 genomes]
rs16907396	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4529876	0.89[ASN][1000 genomes]
rs4910118	0.83[EUR][1000 genomes]
rs57420335	0.90[EUR][1000 genomes]
rs59757006	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7121617	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7938788	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	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
3	nsv1039636	chr11:10126747-10280570	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10116800-10131000	Weak transcription	Gastric	stomach
2	chr11:10117200-10131000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:10120400-10142800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:10120800-10131000	Weak transcription	A549	lung
5	chr11:10121000-10129800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:10121200-10130400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:10121400-10131200	Weak transcription	Liver	Liver
8	chr11:10122200-10130800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:10122200-10131000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:10122200-10144200	Weak transcription	Left Ventricle	heart
11	chr11:10122200-10156400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:10122400-10130800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:10122400-10130800	Weak transcription	Fetal Lung	lung
14	chr11:10122400-10130800	Weak transcription	HSMM	muscle
15	chr11:10122400-10131200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:10122400-10138600	Weak transcription	Esophagus	oesophagus
17	chr11:10122600-10130400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:10122600-10130800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:10122800-10130400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:10122800-10130400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:10122800-10131000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:10122800-10132800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:10122800-10141200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr11:10122800-10142600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:10123000-10130200	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:10123000-10130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:10123200-10156400	Weak transcription	Fetal Intestine Small	intestine
28	chr11:10126200-10131000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:10126200-10143000	Weak transcription	Ovary	ovary
30	chr11:10128000-10131000	Enhancers	NHDF-Ad	bronchial
31	chr11:10128400-10131000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:10128800-10132200	Enhancers	Colon Smooth Muscle	Colon
33	chr11:10128800-10132200	Enhancers	Fetal Heart	heart
34	chr11:10129000-10131400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr11:10129000-10131800	Enhancers	Adipose Nuclei	Adipose
36	chr11:10129000-10131800	Enhancers	Rectal Smooth Muscle	rectum
37	chr11:10129000-10132400	Enhancers	Osteobl	bone
38	chr11:10129200-10129800	Weak transcription	HSMMtube	muscle
39	chr11:10129200-10130600	Enhancers	Psoas Muscle	Psoas
40	chr11:10129200-10131000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:10129200-10131000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:10129400-10129600	Enhancers	Fetal Brain Male	brain
43	chr11:10129400-10130400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:10129400-10130400	Weak transcription	NHLF	lung
45	chr11:10129400-10130600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr11:10129400-10131000	Weak transcription	Aorta	Aorta

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