Variant report

Variant	rs4518488
Chromosome Location	chr6:11424734-11424735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11355983..11357680-chr6:11424097..11426477,2	MCF-7	breast:
2	chr6:11423621..11427169-chr6:11433589..11436531,3	MCF-7	breast:
3	chr6:11424121..11426419-chr6:11426537..11429403,3	MCF-7	breast:
4	chr6:11418259..11420546-chr6:11423416..11426272,2	MCF-7	breast:
5	chr6:11424461..11426917-chr6:11430880..11433034,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs35041358	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4074960	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075603	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4076120	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4285312	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457459	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7759515	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296006	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9296007	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296008	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368702	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368703	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380273	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380274	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380275	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394080	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11412600-11425600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:11412600-11425600	Weak transcription	NHLF	lung
3	chr6:11415000-11425800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:11417800-11426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:11420200-11427400	Weak transcription	Aorta	Aorta
6	chr6:11423200-11431800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:11423400-11424800	Enhancers	HUVEC	blood vessel
8	chr6:11423400-11425000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:11423400-11426200	Enhancers	HMEC	breast
10	chr6:11423400-11427800	Enhancers	A549	lung
11	chr6:11423400-11430200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:11423400-11430400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:11423400-11430600	Enhancers	NHDF-Ad	bronchial
14	chr6:11423400-11434200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:11423600-11425000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:11423600-11425200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:11423600-11425800	Enhancers	Hela-S3	cervix
18	chr6:11423600-11426200	Enhancers	NH-A	brain
19	chr6:11423600-11427600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:11423600-11430400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:11423600-11432200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr6:11423600-11435200	Enhancers	HepG2	liver
23	chr6:11423800-11425200	Enhancers	NHEK	skin
24	chr6:11423800-11427000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr6:11423800-11427400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:11423800-11435600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:11424000-11425200	Enhancers	Adipose Nuclei	Adipose
28	chr6:11424000-11427000	Enhancers	Fetal Kidney	kidney
29	chr6:11424000-11427600	Weak transcription	Esophagus	oesophagus
30	chr6:11424000-11427600	Weak transcription	Left Ventricle	heart
31	chr6:11424000-11428600	Enhancers	Lung	lung
32	chr6:11424000-11429600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr6:11424000-11429600	Enhancers	Stomach Mucosa	stomach
34	chr6:11424000-11430400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:11424200-11424800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr6:11424200-11425000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr6:11424200-11425600	Weak transcription	HSMM	muscle
38	chr6:11424200-11425800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:11424400-11424800	Weak transcription	Right Atrium	heart
40	chr6:11424400-11424800	Weak transcription	GM12878-XiMat	blood
41	chr6:11424400-11425200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:11424600-11425000	Enhancers	HSMMtube	muscle
43	chr6:11424600-11430600	Enhancers	Placenta	Placenta
44	chr6:11424600-11430800	Enhancers	Osteobl	bone

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