Variant report

Variant	rs17127818
Chromosome Location	chr1:85959411-85959412
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85773930..85774442-chr1:85959188..85959953,2	MCF-7	breast:
2	chr1:85957596..85960543-chr1:86049198..86051756,2	K562	blood:
3	chr1:85958709..85962572-chr1:86044730..86049172,10	MCF-7	breast:
4	chr1:85809927..85811661-chr1:85958885..85960854,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1045609	1.00[EUR][1000 genomes]
rs11802530	1.00[EUR][1000 genomes]
rs11808537	1.00[EUR][1000 genomes]
rs11809833	1.00[EUR][1000 genomes]
rs233122	1.00[EUR][1000 genomes]
rs34609757	1.00[EUR][1000 genomes]
rs74098846	1.00[EUR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85931800-85960000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:85932000-85961400	Weak transcription	Fetal Stomach	stomach
3	chr1:85950400-85960000	Weak transcription	Adipose Nuclei	Adipose
4	chr1:85950800-85960400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:85951400-85960200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:85951600-85959600	Strong transcription	HSMM	muscle
7	chr1:85951800-85960200	Strong transcription	NH-A	brain
8	chr1:85953000-85960000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:85953200-85960400	Strong transcription	Osteobl	bone
10	chr1:85953400-85960000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:85955400-85960200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:85956400-85960000	Weak transcription	HepG2	liver
13	chr1:85956400-85960200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:85956400-85968200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:85957400-85960000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:85957400-85960000	Weak transcription	HSMMtube	muscle
17	chr1:85957400-85960200	Weak transcription	Aorta	Aorta
18	chr1:85957400-85960400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:85957400-85960400	Weak transcription	NHLF	lung
20	chr1:85957600-85959800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:85957600-85959800	Weak transcription	Fetal Intestine Small	intestine
22	chr1:85957800-85960400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:85958400-85960000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:85958600-85962200	Weak transcription	HUVEC	blood vessel
25	chr1:85958800-85959600	Weak transcription	NHDF-Ad	bronchial
26	chr1:85959400-85960000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:85959400-85960600	Enhancers	Liver	Liver

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