Variant report

Variant	rs10233927
Chromosome Location	chr7:47706121-47706122
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	chr7:47685575..47687990-chr7:47705109..47707807,2	MCF-7	breast:
2	chr7:47704100..47706174-chr7:47707596..47709114,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10156019	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10230114	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11765162	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12334283	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28442161	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57543384	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6945881	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7458333	0.95[EUR][1000 genomes];0.88[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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10233927	YKT6	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47695000-47711000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:47700000-47708800	Weak transcription	Spleen	Spleen
3	chr7:47701000-47708800	Weak transcription	Right Ventricle	heart
4	chr7:47701600-47708400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:47701600-47708800	Weak transcription	Fetal Kidney	kidney
6	chr7:47701600-47709000	Weak transcription	Lung	lung
7	chr7:47701800-47706400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:47701800-47707800	Weak transcription	Primary B cells from cord blood	blood
9	chr7:47702600-47708200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:47703400-47707400	Enhancers	Fetal Intestine Large	intestine
11	chr7:47703600-47708800	Weak transcription	Psoas Muscle	Psoas
12	chr7:47703800-47708600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:47703800-47708600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:47703800-47708800	Weak transcription	Liver	Liver
15	chr7:47703800-47709000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:47704200-47706800	Enhancers	HepG2	liver
17	chr7:47704600-47710400	Weak transcription	Fetal Lung	lung
18	chr7:47705000-47706400	Enhancers	A549	lung
19	chr7:47705000-47708800	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:47705200-47706800	Enhancers	Fetal Muscle Trunk	muscle
21	chr7:47705200-47709000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:47705400-47706800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr7:47705600-47706600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:47705600-47706800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:47705600-47706800	Enhancers	NHLF	lung
26	chr7:47705600-47707000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:47705600-47707200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:47705600-47707200	Enhancers	Osteobl	bone
29	chr7:47705800-47706200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:47705800-47706200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:47705800-47706600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:47705800-47706600	Enhancers	NHDF-Ad	bronchial
33	chr7:47705800-47706800	Enhancers	Aorta	Aorta
34	chr7:47705800-47706800	Enhancers	HSMMtube	muscle
35	chr7:47705800-47707200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:47705800-47707200	Enhancers	HSMM	muscle
37	chr7:47705800-47707400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:47705800-47708000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:47706000-47706200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:47706000-47706600	Enhancers	Fetal Intestine Small	intestine
41	chr7:47706000-47706600	Enhancers	Pancreas	Pancrea
42	chr7:47706000-47706800	Enhancers	NH-A	brain
43	chr7:47706000-47721600	Enhancers	Placenta	Placenta

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