Variant report

Variant	rs12089869
Chromosome Location	chr1:214668617-214668618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214660865..214663396-chr1:214666846..214669507,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11120342	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12561901	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12566894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12726438	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4130487	0.90[AFR][1000 genomes]
rs4655354	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655358	0.97[AFR][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	nsv468094	chr1:214654965-214687725	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv549180	chr1:214654965-214687725	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214646000-214672200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:214648000-214669400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:214654400-214677400	Weak transcription	Gastric	stomach
4	chr1:214663200-214673600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:214664600-214669400	Weak transcription	Fetal Kidney	kidney
6	chr1:214664800-214671800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr1:214664800-214672000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:214665000-214669600	Weak transcription	Spleen	Spleen
9	chr1:214665400-214676600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:214665400-214705400	Weak transcription	Right Ventricle	heart
11	chr1:214665600-214670200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:214665800-214669000	Enhancers	NHDF-Ad	bronchial
13	chr1:214666000-214668800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:214666000-214669000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:214666600-214668800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:214666600-214669400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:214666600-214669600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:214666600-214671600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:214666600-214672400	Weak transcription	Ovary	ovary
20	chr1:214666600-214672400	Enhancers	Osteobl	bone
21	chr1:214666600-214673800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:214666600-214675200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:214666600-214677600	Weak transcription	Pancreas	Pancrea
24	chr1:214666800-214669200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:214666800-214669400	Weak transcription	Aorta	Aorta
26	chr1:214666800-214670600	Enhancers	NHEK	skin
27	chr1:214666800-214671200	Weak transcription	Adipose Nuclei	Adipose
28	chr1:214667400-214670800	Enhancers	HMEC	breast
29	chr1:214667600-214670000	Enhancers	HSMM	muscle
30	chr1:214667800-214668800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:214667800-214668800	Enhancers	Colon Smooth Muscle	Colon
32	chr1:214667800-214668800	Enhancers	Hela-S3	cervix
33	chr1:214667800-214669000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:214667800-214669000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr1:214667800-214669000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:214667800-214669000	Enhancers	NH-A	brain
37	chr1:214667800-214670000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:214667800-214670000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:214668000-214668800	Enhancers	HUVEC	blood vessel
40	chr1:214668000-214673200	Weak transcription	Placenta	Placenta
41	chr1:214668200-214668800	Enhancers	Fetal Heart	heart
42	chr1:214668200-214671000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:214668400-214669200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:214668400-214669600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:214668400-214669600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:214668400-214669600	Weak transcription	Psoas Muscle	Psoas
47	chr1:214668400-214670000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:214668400-214670000	Enhancers	A549	lung
49	chr1:214668400-214673200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:214668400-214673200	Weak transcription	NHLF	lung

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