Variant report

Variant	rs12232473
Chromosome Location	chr17:66773151-66773152
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66772730..66774171-chr17:67231346..67232744,9	MCF-7	breast:
2	chr17:66772997..66774498-chr17:67231272..67232303,7	MCF-7	breast:
3	chr17:66773084..66773987-chr17:67242641..67243549,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1348372	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968941	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7217811	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72843205	1.00[ASN][1000 genomes]
rs7502630	0.98[ASN][1000 genomes]
rs7502934	0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs755424	0.91[ASN][1000 genomes]
rs9302982	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs935138	0.89[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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66768600-66773400	Weak transcription	Brain Anterior Caudate	brain
2	chr17:66768600-66773400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr17:66768600-66773400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr17:66768600-66773400	Weak transcription	Fetal Lung	lung
5	chr17:66768600-66773400	Weak transcription	Fetal Stomach	stomach
6	chr17:66768600-66773600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr17:66768600-66773800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:66768600-66778800	Weak transcription	HSMMtube	muscle
9	chr17:66768600-66789200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr17:66768800-66773200	Weak transcription	Colon Smooth Muscle	Colon
11	chr17:66768800-66773400	Weak transcription	Brain Angular Gyrus	brain
12	chr17:66768800-66774800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr17:66769000-66773200	Weak transcription	Brain Hippocampus Middle	brain
14	chr17:66769000-66774400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr17:66770600-66773400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:66770600-66774400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:66770600-66774800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr17:66770600-66775000	Enhancers	NHDF-Ad	bronchial
19	chr17:66770600-66776400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:66770800-66774400	Weak transcription	Right Atrium	heart
21	chr17:66771000-66773400	Weak transcription	Liver	Liver
22	chr17:66771000-66774000	Weak transcription	K562	blood
23	chr17:66771000-66774800	Enhancers	NHLF	lung
24	chr17:66771200-66773400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:66771200-66773400	Weak transcription	Stomach Mucosa	stomach
26	chr17:66771200-66773800	Enhancers	Adipose Nuclei	Adipose
27	chr17:66771200-66773800	Enhancers	HepG2	liver
28	chr17:66771200-66774400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:66771200-66774400	Weak transcription	Gastric	stomach
30	chr17:66771200-66774400	Weak transcription	Spleen	Spleen
31	chr17:66771200-66774600	Weak transcription	Placenta	Placenta
32	chr17:66771200-66774800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr17:66771200-66775200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr17:66771600-66774200	Weak transcription	Psoas Muscle	Psoas
35	chr17:66771800-66773200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:66771800-66773400	Weak transcription	Fetal Intestine Large	intestine
37	chr17:66771800-66773400	Weak transcription	Fetal Intestine Small	intestine
38	chr17:66771800-66773400	Weak transcription	NH-A	brain
39	chr17:66771800-66773800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr17:66772000-66773200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr17:66772000-66773400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr17:66772000-66773400	Weak transcription	Osteobl	bone
43	chr17:66772000-66773800	Weak transcription	Hela-S3	cervix
44	chr17:66772400-66773600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr17:66772600-66773200	Enhancers	Ovary	ovary
46	chr17:66772600-66774800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr17:66772600-66777000	Enhancers	Fetal Muscle Leg	muscle
48	chr17:66772800-66773600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr17:66773000-66773800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr17:66773000-66775000	Enhancers	HUVEC	blood vessel

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