Variant report

Variant	rs11130085
Chromosome Location	chr3:46127199-46127200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46126220..46128716-chr3:46205313..46206814,2	MCF-7	breast:
2	chr3:46127005..46128993-chr3:46132615..46135304,2	K562	blood:
3	chr3:46123578..46126069-chr3:46127195..46129826,3	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs11130086	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1118879	0.89[ASN][1000 genomes]
rs11917890	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11929281	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12485978	0.89[ASN][1000 genomes]
rs12495073	0.84[ASN][1000 genomes]
rs12496322	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12629632	0.89[ASN][1000 genomes]
rs12637023	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13059919	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13060901	0.83[ASN][1000 genomes]
rs13065737	0.89[ASN][1000 genomes]
rs13073861	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13077099	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13077923	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13078053	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13082280	0.87[ASN][1000 genomes]
rs13098271	0.81[ASN][1000 genomes]
rs13434029	0.87[ASN][1000 genomes]
rs13434336	0.93[ASN][1000 genomes]
rs1392290	0.82[ASN][1000 genomes]
rs1491959	0.93[ASN][1000 genomes]
rs1500005	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1546077	0.90[ASN][1000 genomes]
rs1546078	0.90[ASN][1000 genomes]
rs1602579	0.89[ASN][1000 genomes]
rs1604069	0.92[ASN][1000 genomes]
rs17078577	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1909595	0.89[ASN][1000 genomes]
rs1909596	0.92[ASN][1000 genomes]
rs1976366	0.90[ASN][1000 genomes]
rs1976367	0.90[ASN][1000 genomes]
rs2036292	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2131091	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2201984	0.81[ASN][1000 genomes]
rs2220678	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2373150	0.87[ASN][1000 genomes]
rs2373151	0.87[ASN][1000 genomes]
rs2373153	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2373154	0.89[ASN][1000 genomes]
rs28808964	0.80[ASN][1000 genomes]
rs34067839	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34381514	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34906043	0.81[ASN][1000 genomes]
rs35359253	0.89[ASN][1000 genomes]
rs35435608	0.81[ASN][1000 genomes]
rs35462017	0.89[ASN][1000 genomes]
rs35567508	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35657218	0.81[ASN][1000 genomes]
rs36111470	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3851347	0.82[ASN][1000 genomes]
rs4234452	0.80[ASN][1000 genomes]
rs4318588	0.87[ASN][1000 genomes]
rs4333119	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4682806	0.93[ASN][1000 genomes]
rs4682809	0.90[ASN][1000 genomes]
rs4682810	0.90[ASN][1000 genomes]
rs4683168	0.81[ASN][1000 genomes]
rs4683175	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4683176	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4683178	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56307311	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59521415	0.89[ASN][1000 genomes]
rs60539039	0.82[ASN][1000 genomes]
rs61079448	0.89[ASN][1000 genomes]
rs6441944	0.89[ASN][1000 genomes]
rs6764042	0.83[ASN][1000 genomes]
rs6772051	0.86[ASN][1000 genomes]
rs6776028	0.85[ASN][1000 genomes]
rs6784214	0.90[ASN][1000 genomes]
rs6794103	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6794475	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6795629	0.90[ASN][1000 genomes]
rs6800484	0.93[ASN][1000 genomes]
rs6805094	0.83[ASN][1000 genomes]
rs6808074	0.86[ASN][1000 genomes]
rs6809381	0.89[ASN][1000 genomes]
rs7610518	0.89[ASN][1000 genomes]
rs7616464	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7623460	0.83[ASN][1000 genomes]
rs7631598	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7642701	0.81[ASN][1000 genomes]
rs9311386	0.92[ASN][1000 genomes]
rs9311387	0.92[ASN][1000 genomes]
rs9637425	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9824886	0.87[ASN][1000 genomes]
rs9849015	0.81[ASN][1000 genomes]
rs9870445	0.92[ASN][1000 genomes]
rs9876587	0.92[ASN][1000 genomes]
rs9990063	0.93[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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46120600-46127200	Weak transcription	Fetal Stomach	stomach
2	chr3:46120800-46129400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr3:46123000-46127600	Weak transcription	Hela-S3	cervix
4	chr3:46123200-46129600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr3:46123400-46130400	Weak transcription	Adipose Nuclei	Adipose
6	chr3:46125000-46127200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:46125200-46127400	Weak transcription	Placenta	Placenta
8	chr3:46125400-46127800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:46125400-46128400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr3:46125800-46127200	Weak transcription	HMEC	breast
11	chr3:46125800-46127400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:46125800-46127400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:46125800-46127800	Weak transcription	Fetal Heart	heart
14	chr3:46125800-46130600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:46126000-46127200	Weak transcription	NHEK	skin
16	chr3:46126200-46132600	Weak transcription	Right Atrium	heart
17	chr3:46126600-46127600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:46126600-46127600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr3:46126600-46128000	Enhancers	Ovary	ovary
20	chr3:46126600-46128000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr3:46126800-46127600	Enhancers	Fetal Thymus	thymus
22	chr3:46127000-46127200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr3:46127000-46127200	Enhancers	Colon Smooth Muscle	Colon
24	chr3:46127000-46127600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:46127000-46127600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:46127000-46127600	Enhancers	HSMM	muscle
27	chr3:46127000-46128200	Enhancers	Fetal Lung	lung
28	chr3:46127000-46128200	Enhancers	Spleen	Spleen
29	chr3:46127000-46128400	Enhancers	Stomach Smooth Muscle	stomach
30	chr3:46127000-46128400	Enhancers	HSMMtube	muscle

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