Variant report

Variant	rs17764708
Chromosome Location	chr5:57618649-57618650
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	chr5:57615984..57618910-chr5:57754343..57756534,2	MCF-7	breast:
2	chr5:57618594..57622607-chr5:57622737..57625400,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1428376	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17438760	1.00[CHD][hapmap]
rs17763980	1.00[CHD][hapmap]
rs3846534	0.83[GIH][hapmap];0.84[TSI][hapmap]
rs72755777	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72755778	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72755779	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72755784	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72755786	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72755793	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72755795	0.84[AMR][1000 genomes];0.96[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	esv3489100	chr5:57545689-57669673	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3489101	chr5:57545689-57669673	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17764708	SKIV2L2	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57616400-57620200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:57616600-57619800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:57617400-57619600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:57617600-57619000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:57617600-57619000	Enhancers	HUVEC	blood vessel
6	chr5:57617600-57622800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:57617800-57618800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:57617800-57619000	Enhancers	NH-A	brain
9	chr5:57617800-57619200	Enhancers	NHDF-Ad	bronchial
10	chr5:57617800-57619200	Enhancers	Osteobl	bone
11	chr5:57618000-57618800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:57618000-57619000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:57618200-57618800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:57618200-57619000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:57618200-57619200	Enhancers	A549	lung
16	chr5:57618200-57619200	Enhancers	HSMM	muscle
17	chr5:57618200-57619400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:57618200-57619400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:57618200-57619600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:57618200-57619800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:57618200-57620000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:57618400-57618800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr5:57618400-57618800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:57618400-57619200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:57618400-57619200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:57618400-57619200	Enhancers	HMEC	breast
27	chr5:57618400-57619400	Enhancers	Fetal Kidney	kidney
28	chr5:57618600-57619000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:57618600-57619000	Enhancers	Placenta	Placenta
30	chr5:57618600-57619000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr5:57618600-57619000	Enhancers	NHEK	skin
32	chr5:57618600-57619800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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