Variant report

Variant	rs7502630
Chromosome Location	chr17:66770136-66770137
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66769983..66770620-chr17:67231549..67232261,2	K562	blood:
2	chr17:66770108..66771310-chr17:67231378..67232223,4	MCF-7	breast:
3	chr17:66770128..66770971-chr17:66968392..66969147,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12232473	0.98[ASN][1000 genomes]
rs1348372	0.98[ASN][1000 genomes]
rs4968941	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7217811	0.97[ASN][1000 genomes]
rs72843205	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7502934	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs755424	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8081909	0.80[EUR][1000 genomes]
rs9302982	0.97[ASN][1000 genomes]
rs935138	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66768400-66770600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr17:66768400-66770800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:66768600-66770200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr17:66768600-66770600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr17:66768600-66770600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr17:66768600-66770600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr17:66768600-66770600	Weak transcription	Liver	Liver
8	chr17:66768600-66770600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr17:66768600-66770600	Weak transcription	Ovary	ovary
10	chr17:66768600-66770600	Weak transcription	Right Atrium	heart
11	chr17:66768600-66770600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr17:66768600-66770600	Weak transcription	A549	lung
13	chr17:66768600-66770600	Weak transcription	Hela-S3	cervix
14	chr17:66768600-66771000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:66768600-66771200	Weak transcription	Primary B cells from cord blood	blood
16	chr17:66768600-66771200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:66768600-66771400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:66768600-66772800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr17:66768600-66773400	Weak transcription	Brain Anterior Caudate	brain
20	chr17:66768600-66773400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr17:66768600-66773400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr17:66768600-66773400	Weak transcription	Fetal Lung	lung
23	chr17:66768600-66773400	Weak transcription	Fetal Stomach	stomach
24	chr17:66768600-66773600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr17:66768600-66773800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:66768600-66778800	Weak transcription	HSMMtube	muscle
27	chr17:66768600-66789200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr17:66768800-66770600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:66768800-66770600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:66768800-66770600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr17:66768800-66770600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr17:66768800-66770600	Weak transcription	Adipose Nuclei	Adipose
33	chr17:66768800-66770600	Weak transcription	Fetal Muscle Leg	muscle
34	chr17:66768800-66770600	Weak transcription	Placenta	Placenta
35	chr17:66768800-66770600	Weak transcription	HepG2	liver
36	chr17:66768800-66770600	Weak transcription	HUVEC	blood vessel
37	chr17:66768800-66770600	Weak transcription	NHLF	lung
38	chr17:66768800-66770800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr17:66768800-66771000	Weak transcription	Osteobl	bone
40	chr17:66768800-66773200	Weak transcription	Colon Smooth Muscle	Colon
41	chr17:66768800-66773400	Weak transcription	Brain Angular Gyrus	brain
42	chr17:66768800-66774800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr17:66769000-66770400	Weak transcription	GM12878-XiMat	blood
44	chr17:66769000-66770600	Weak transcription	NHDF-Ad	bronchial
45	chr17:66769000-66773200	Weak transcription	Brain Hippocampus Middle	brain
46	chr17:66769000-66774400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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