Variant report

Variant	rs72861781
Chromosome Location	chr11:10229317-10229318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10227925..10230421-chr11:10313078..10316314,3	MCF-7	breast:
2	chr11:10229196..10230420-chr11:10329036..10329749,4	K562	blood:
3	chr11:10226516..10229103-chr11:10229118..10231466,3	MCF-7	breast:
4	chr11:10228823..10229753-chr11:10757048..10757561,2	K562	blood:
5	chr11:10228745..10232588-chr11:10322997..10326616,6	MCF-7	breast:
6	chr11:10228223..10229821-chr11:10315025..10316568,2	MCF-7	breast:
7	chr11:10228277..10231249-chr11:10328543..10331201,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133805	Chromatin interaction
ENSG00000254554	Chromatin interaction
ENSG00000133812	Chromatin interaction
ENSG00000148926	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10160400	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11827277	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11828592	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16907372	0.81[EUR][1000 genomes]
rs16907375	0.81[EUR][1000 genomes]
rs16907381	0.82[EUR][1000 genomes]
rs16907385	0.82[EUR][1000 genomes]
rs16907405	0.86[EUR][1000 genomes]
rs16907414	0.86[EUR][1000 genomes]
rs16907422	0.86[EUR][1000 genomes]
rs16907424	0.86[EUR][1000 genomes]
rs16907460	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16907505	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16907507	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16907525	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17293593	0.91[ASN][1000 genomes]
rs17294292	0.91[ASN][1000 genomes]
rs17294511	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17295800	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17295954	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17361849	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17368443	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17368498	1.00[ASN][1000 genomes]
rs2278629	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278631	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920154	1.00[ASN][1000 genomes]
rs4515960	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55650476	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55650931	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55678570	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55771749	1.00[ASN][1000 genomes]
rs55797397	0.86[EUR][1000 genomes]
rs55823443	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55865301	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55868496	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55905435	0.81[EUR][1000 genomes]
rs55925664	0.91[ASN][1000 genomes]
rs55955707	0.86[EUR][1000 genomes]
rs56203621	0.81[AMR][1000 genomes]
rs56244748	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56275118	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56287081	0.91[ASN][1000 genomes]
rs56409115	0.82[EUR][1000 genomes]
rs66593106	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67257108	0.83[ASN][1000 genomes]
rs7105045	0.91[ASN][1000 genomes]
rs72850415	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850420	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850423	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850426	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850434	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850453	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850480	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851606	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72851620	1.00[ASN][1000 genomes]
rs72857188	0.81[EUR][1000 genomes]
rs72857189	0.81[EUR][1000 genomes]
rs72857190	0.81[EUR][1000 genomes]
rs72857192	0.81[EUR][1000 genomes]
rs72857193	0.81[EUR][1000 genomes]
rs72857194	0.81[EUR][1000 genomes]
rs72857196	0.81[EUR][1000 genomes]
rs72857201	0.81[EUR][1000 genomes]
rs72858804	0.81[EUR][1000 genomes]
rs72858806	0.81[EUR][1000 genomes]
rs72858808	0.81[EUR][1000 genomes]
rs72858814	0.82[EUR][1000 genomes]
rs72858835	0.86[EUR][1000 genomes]
rs72858836	0.86[EUR][1000 genomes]
rs72858837	0.86[EUR][1000 genomes]
rs72858840	0.86[EUR][1000 genomes]
rs72858841	0.86[EUR][1000 genomes]
rs72858842	0.86[EUR][1000 genomes]
rs72858845	0.86[EUR][1000 genomes]
rs72858870	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72860505	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72860544	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72860557	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72860561	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72860566	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72861704	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72861713	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861720	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861722	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861724	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861731	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861747	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861754	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861755	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861758	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72863308	0.91[AFR][1000 genomes]
rs72863310	0.91[AFR][1000 genomes]
rs72863321	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10208800-10229400	Weak transcription	NHLF	lung
2	chr11:10219000-10242200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:10223800-10229600	Weak transcription	Osteobl	bone
4	chr11:10226800-10230000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:10227000-10230200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr11:10227000-10230200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:10227000-10230400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr11:10227200-10230200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:10227400-10235600	Weak transcription	Psoas Muscle	Psoas
10	chr11:10227400-10240000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:10227600-10232200	Weak transcription	Right Atrium	heart
12	chr11:10227600-10240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:10227800-10229400	Weak transcription	HepG2	liver
14	chr11:10227800-10229600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:10227800-10229600	Weak transcription	Liver	Liver
16	chr11:10227800-10230000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:10227800-10230200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr11:10227800-10239800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:10227800-10240000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:10227800-10242600	Weak transcription	Esophagus	oesophagus
21	chr11:10228000-10229800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:10228200-10230400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr11:10228400-10229600	Enhancers	NHDF-Ad	bronchial
24	chr11:10228400-10230000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:10228600-10230400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr11:10228800-10229800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:10228800-10230000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:10228800-10230200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:10228800-10232200	Enhancers	Fetal Lung	lung
30	chr11:10229000-10229600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:10229000-10229800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr11:10229000-10229800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:10229000-10229800	Enhancers	Gastric	stomach
34	chr11:10229000-10229800	Enhancers	Ovary	ovary
35	chr11:10229000-10229800	Enhancers	Stomach Mucosa	stomach
36	chr11:10229200-10230000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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