Variant report

Variant	rs6451574
Chromosome Location	chr5:41409846-41409847
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41404307..41406613-chr5:41408825..41411220,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1380998	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551574	1.00[JPT][hapmap]
rs16871303	0.86[GIH][hapmap];0.87[MEX][hapmap]
rs2289786	1.00[JPT][hapmap]
rs318035	1.00[JPT][hapmap]
rs318036	1.00[JPT][hapmap]
rs319005	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319011	1.00[JPT][hapmap]
rs319012	1.00[JPT][hapmap]
rs672658	0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs7715750	1.00[JPT][hapmap]
rs7719641	1.00[CHD][hapmap]

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	esv1851387	chr5:41336050-41423631	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1024631	chr5:41341979-41427953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6451574	OSMR	cis	parietal	SCAN
rs6451574	SEPP1	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41404000-41412000	Enhancers	Fetal Heart	heart
2	chr5:41405400-41410600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:41405800-41410000	Enhancers	Fetal Intestine Small	intestine
4	chr5:41407400-41410600	Weak transcription	Pancreas	Pancrea
5	chr5:41408200-41410000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:41408200-41410000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:41408400-41410000	Enhancers	NHLF	lung
8	chr5:41408800-41410000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:41408800-41410000	Flanking Active TSS	A549	lung
10	chr5:41409400-41410000	Enhancers	Duodenum Mucosa	Duodenum
11	chr5:41409400-41412600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:41409600-41410200	Weak transcription	Right Atrium	heart
13	chr5:41409600-41410200	Weak transcription	Right Ventricle	heart
14	chr5:41409600-41410800	Weak transcription	HepG2	liver
15	chr5:41409600-41412600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:41409600-41412600	Weak transcription	Ovary	ovary
17	chr5:41409600-41412800	Weak transcription	Hela-S3	cervix
18	chr5:41409600-41413800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:41409600-41414400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:41409600-41414400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:41409600-41414400	Weak transcription	HMEC	breast
22	chr5:41409600-41414400	Weak transcription	NH-A	brain
23	chr5:41409600-41414600	Weak transcription	HSMM	muscle
24	chr5:41409800-41410000	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr5:41409800-41410200	Weak transcription	Left Ventricle	heart
26	chr5:41409800-41412600	Weak transcription	Fetal Intestine Large	intestine
27	chr5:41409800-41412600	Weak transcription	NHDF-Ad	bronchial
28	chr5:41409800-41412800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:41409800-41414400	Weak transcription	Osteobl	bone
30	chr5:41409800-41418400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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