Variant report

Variant	rs1894814
Chromosome Location	chr12:8988777-8988778
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	chr12:8980443..8982182-chr12:8987390..8989439,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10734734	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10743504	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11047510	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11047578	0.83[EUR][1000 genomes]
rs12296947	0.83[EUR][1000 genomes]
rs12823255	0.91[EUR][1000 genomes]
rs17729632	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs17729753	0.89[MEX][hapmap]
rs17802399	0.94[EUR][1000 genomes]
rs2377597	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs2377598	0.84[EUR][1000 genomes]
rs4883181	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs4883182	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs4883183	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs4883184	0.81[EUR][1000 genomes]
rs4883185	0.96[EUR][1000 genomes]
rs4883186	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4883187	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs55906630	0.84[EUR][1000 genomes]
rs56230819	0.85[EUR][1000 genomes]
rs59908019	0.85[EUR][1000 genomes]
rs60175291	0.80[EUR][1000 genomes]
rs6487390	0.87[EUR][1000 genomes]
rs6487407	0.83[EUR][1000 genomes]
rs7136690	0.83[EUR][1000 genomes]
rs7300139	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs7301996	0.83[EUR][1000 genomes]
rs7302253	0.83[EUR][1000 genomes]
rs7304994	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7305259	0.93[EUR][1000 genomes]
rs7308811	0.89[MEX][hapmap]
rs7957179	0.90[EUR][1000 genomes]
rs7957396	0.80[EUR][1000 genomes]
rs7970580	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7978604	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521922	chr12:8986379-8991970	Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1894814	OLR1	cis	parietal	SCAN
rs1894814	MANSC1	cis	parietal	SCAN
rs1894814	CD163L1	cis	parietal	SCAN
rs1894814	ING4	cis	cerebellum	SCAN
rs1894814	GALNT8	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8979000-8995400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:8982200-9022000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:8983400-9017600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:8983800-8999800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:8985400-8992400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:8987400-8989000	Strong transcription	Esophagus	oesophagus
7	chr12:8987400-8991800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:8987600-9004200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:8987600-9040000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:8987800-9002800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:8987800-9004800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:8987800-9012800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:8988000-8989000	Enhancers	K562	blood
14	chr12:8988200-8990200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:8988200-8990600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:8988200-8990600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:8988200-8991800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:8988200-9012800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:8988400-8994000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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