Variant report

Variant	rs7502934
Chromosome Location	chr17:66773987-66773988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:66773289..66774867-chr17:66781256..66783342,2	K562	blood:
2	chr17:66773286..66774313-chr17:67231274..67232262,6	K562	blood:
3	chr17:66773454..66774157-chr17:66967941..66968651,3	MCF-7	breast:
4	chr17:66773233..66774221-chr17:66902466..66903487,7	MCF-7	breast:
5	chr17:66772730..66774171-chr17:67231346..67232744,9	MCF-7	breast:
6	chr17:66773290..66774290-chr17:67242681..67243374,4	K562	blood:
7	chr17:66773647..66776231-chr17:67231747..67233386,2	MCF-7	breast:
8	chr17:66773389..66774236-chr17:66968021..66969271,11	MCF-7	breast:
9	chr17:66773644..66774375-chr17:67054064..67055022,2	K562	blood:
10	chr17:66773331..66774215-chr17:67053604..67054929,4	MCF-7	breast:
11	chr17:66772997..66774498-chr17:67231272..67232303,7	MCF-7	breast:
12	chr17:66773084..66773987-chr17:67242641..67243549,3	MCF-7	breast:

No data

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12232473	0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1348372	0.99[ASN][1000 genomes]
rs2120192	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4968941	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7217811	1.00[ASN][1000 genomes]
rs72843205	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7502630	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs755424	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8081909	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9302982	1.00[ASN][1000 genomes]
rs935138	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66768600-66778800	Weak transcription	HSMMtube	muscle
2	chr17:66768600-66789200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr17:66768800-66774800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr17:66769000-66774400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr17:66770600-66774400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr17:66770600-66774800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr17:66770600-66775000	Enhancers	NHDF-Ad	bronchial
8	chr17:66770600-66776400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:66770800-66774400	Weak transcription	Right Atrium	heart
10	chr17:66771000-66774000	Weak transcription	K562	blood
11	chr17:66771000-66774800	Enhancers	NHLF	lung
12	chr17:66771200-66774400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:66771200-66774400	Weak transcription	Gastric	stomach
14	chr17:66771200-66774400	Weak transcription	Spleen	Spleen
15	chr17:66771200-66774600	Weak transcription	Placenta	Placenta
16	chr17:66771200-66774800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr17:66771200-66775200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr17:66771600-66774200	Weak transcription	Psoas Muscle	Psoas
19	chr17:66772600-66774800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr17:66772600-66777000	Enhancers	Fetal Muscle Leg	muscle
21	chr17:66773000-66775000	Enhancers	HUVEC	blood vessel
22	chr17:66773200-66774200	Enhancers	Colon Smooth Muscle	Colon
23	chr17:66773200-66780000	Weak transcription	Ovary	ovary
24	chr17:66773400-66774000	Enhancers	Fetal Intestine Small	intestine
25	chr17:66773400-66774000	Enhancers	Stomach Mucosa	stomach
26	chr17:66773400-66774000	Enhancers	NH-A	brain
27	chr17:66773400-66774200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:66773400-66774200	Enhancers	Fetal Intestine Large	intestine
29	chr17:66773400-66774600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:66773400-66774800	Enhancers	Brain Angular Gyrus	brain
31	chr17:66773400-66774800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr17:66773400-66774800	Enhancers	Fetal Stomach	stomach
33	chr17:66773400-66775000	Enhancers	Fetal Lung	lung
34	chr17:66773400-66775200	Enhancers	Brain Substantia Nigra	brain
35	chr17:66773600-66774000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr17:66773600-66774000	Active TSS	Brain Cingulate Gyrus	brain
37	chr17:66773600-66774800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr17:66773800-66774000	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr17:66773800-66774000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr17:66773800-66774000	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr17:66773800-66774200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:66773800-66774200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr17:66773800-66774200	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr17:66773800-66774200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr17:66773800-66774200	Flanking Active TSS	Osteobl	bone
46	chr17:66773800-66774400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr17:66773800-66774400	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr17:66773800-66774400	Enhancers	Hela-S3	cervix
49	chr17:66773800-66774600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:66773800-66774600	Active TSS	Duodenum Mucosa	Duodenum

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