Variant report

Variant	rs12947036
Chromosome Location	chr17:66418548-66418549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66418285..66420364-chr17:66441433..66444134,2	K562	blood:
2	chr1:149222253..149224213-chr17:66416243..66418959,2	MCF-7	breast:
3	chr17:66287318..66289121-chr17:66417986..66420088,2	MCF-7	breast:
4	chr17:66362012..66364838-chr17:66417050..66419563,2	MCF-7	breast:
5	chr17:66417663..66419616-chr17:66423067..66424750,3	MCF-7	breast:
6	chr17:66416995..66418790-chr17:66420034..66422999,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108932	Chromatin interaction
ENSG00000141337	Chromatin interaction
ENSG00000207561	Chromatin interaction
ENSG00000070540	Chromatin interaction

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

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

rs_ID	r²[population]
rs1002446	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11077542	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11870010	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12453020	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12943181	0.94[AFR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12945490	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12946747	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12948224	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59439636	0.84[EUR][1000 genomes]
rs8075656	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66410200-66419000	Weak transcription	Esophagus	oesophagus
2	chr17:66410200-66432200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr17:66410400-66452400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:66410600-66427800	Weak transcription	HMEC	breast
5	chr17:66410800-66419400	Weak transcription	Thymus	Thymus
6	chr17:66411400-66422400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr17:66411600-66427800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr17:66412200-66421800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr17:66412200-66424800	Weak transcription	Dnd41	blood
10	chr17:66412200-66427800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr17:66412200-66427800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr17:66412200-66432000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr17:66413400-66425000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:66413800-66424800	Weak transcription	HSMM	muscle
15	chr17:66414200-66432200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr17:66414400-66427800	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr17:66414600-66426800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:66414600-66432400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:66414800-66425000	Weak transcription	Primary B cells from cord blood	blood
20	chr17:66415000-66419200	Weak transcription	Brain Angular Gyrus	brain
21	chr17:66415000-66426000	Weak transcription	Fetal Lung	lung
22	chr17:66415400-66423800	Weak transcription	Fetal Intestine Large	intestine
23	chr17:66415400-66424800	Weak transcription	Fetal Heart	heart
24	chr17:66415400-66424800	Weak transcription	GM12878-XiMat	blood
25	chr17:66415400-66428600	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr17:66415800-66420200	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr17:66415800-66420800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:66415800-66427400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr17:66415800-66427800	Strong transcription	Left Ventricle	heart
30	chr17:66415800-66430400	Strong transcription	HSMMtube	muscle
31	chr17:66415800-66431600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr17:66415800-66431800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr17:66415800-66432000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr17:66415800-66432200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:66415800-66432200	Strong transcription	Adipose Nuclei	Adipose
36	chr17:66415800-66432200	Strong transcription	Brain Hippocampus Middle	brain
37	chr17:66415800-66432200	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr17:66415800-66432200	Strong transcription	Placenta	Placenta
39	chr17:66415800-66432200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr17:66415800-66432400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr17:66415800-66433600	Weak transcription	Small Intestine	intestine
42	chr17:66416000-66420800	Strong transcription	Primary T cells from cord blood	blood
43	chr17:66416000-66432200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr17:66416000-66432200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr17:66416000-66432200	Strong transcription	Osteobl	bone
46	chr17:66416000-66432400	Strong transcription	Brain Substantia Nigra	brain
47	chr17:66416000-66432400	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr17:66416200-66419800	Strong transcription	NHLF	lung
49	chr17:66416200-66432400	Strong transcription	Rectal Smooth Muscle	rectum
50	chr17:66416200-66432600	Strong transcription	Brain Cingulate Gyrus	brain

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