Variant report

Variant	rs7530459
Chromosome Location	chr1:85190296-85190297
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85086229..85086777-chr1:85190143..85190708,2	K562	blood:
2	chr1:85189975..85190518-chr1:85218980..85219542,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11164030	0.85[JPT][hapmap]
rs11164043	0.81[CHB][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11164044	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11164046	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11164047	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11802347	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12024245	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12025014	0.81[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12035493	0.85[JPT][hapmap]
rs12042947	0.81[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs12409045	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1340529	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1578329	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17113051	0.81[GIH][hapmap];0.85[JPT][hapmap]
rs17113057	0.85[JPT][hapmap]
rs17114425	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911568	1.00[JPT][hapmap]
rs2911613	0.84[GIH][hapmap];0.86[JPT][hapmap]
rs4506477	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6576721	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6659803	0.81[ASN][1000 genomes]
rs6686971	0.81[CHB][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72952191	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72952199	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72954003	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72954029	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7529024	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7536572	0.81[CHB][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs7553039	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs818521	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7530459	COL24A1	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85186600-85190600	Enhancers	HepG2	liver
2	chr1:85187200-85192000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:85187400-85191600	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:85187400-85191800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:85187400-85192000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:85187400-85192000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:85187400-85192000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:85187400-85192000	Weak transcription	NHEK	skin
9	chr1:85187400-85192400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:85187400-85192600	Weak transcription	Fetal Lung	lung
11	chr1:85187400-85193000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:85187600-85191800	Weak transcription	NHLF	lung
13	chr1:85187600-85192400	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:85187600-85192800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:85188600-85191200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:85189400-85190600	Enhancers	K562	blood
17	chr1:85189400-85191000	Enhancers	Liver	Liver
18	chr1:85189400-85191800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:85189400-85192200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:85189600-85191200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:85189600-85191400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:85189600-85192000	Weak transcription	Osteobl	bone
23	chr1:85189800-85191800	Weak transcription	NHDF-Ad	bronchial
24	chr1:85189800-85192400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:85190000-85190600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:85190000-85194600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:85190200-85190400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr1:85190200-85191800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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