Variant report

Variant	rs12675522
Chromosome Location	chr8:129864362-129864363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10092273	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10094688	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10103995	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10447999	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10956447	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10956448	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10956449	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10956450	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11782234	0.92[EUR][1000 genomes]
rs11785020	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12547429	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12550594	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12676288	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12677710	0.89[EUR][1000 genomes]
rs12677712	0.89[EUR][1000 genomes]
rs12678715	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12679405	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12680246	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13276570	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13277797	0.97[EUR][1000 genomes]
rs13281755	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1356763	0.91[EUR][1000 genomes]
rs1441992	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1519839	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1519853	0.83[EUR][1000 genomes]
rs1519854	0.83[EUR][1000 genomes]
rs1519855	0.83[EUR][1000 genomes]
rs17239733	0.90[EUR][1000 genomes]
rs17240568	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17240784	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17241323	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17819852	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1879165	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2056313	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2894458	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35526947	0.81[EUR][1000 genomes]
rs35902990	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4593504	0.88[EUR][1000 genomes]
rs4733652	0.91[EUR][1000 genomes]
rs4733656	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4733657	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6995598	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6996154	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6999288	0.91[EUR][1000 genomes]
rs7831440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7842437	0.89[EUR][1000 genomes]
rs871502	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9656973	0.85[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	nsv612220	chr8:129859924-129866274	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv517445	chr8:129859924-129881299	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:129858600-129868800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:129860000-129867000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:129861200-129867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:129861800-129864600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:129862000-129864400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:129862000-129864400	Enhancers	NHDF-Ad	bronchial
7	chr8:129862200-129864400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:129862400-129864400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:129862400-129864600	Enhancers	HSMM	muscle
10	chr8:129862800-129865600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:129862800-129866200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:129862800-129866600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:129863000-129866600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:129863200-129866400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:129863200-129866800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:129863200-129866800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:129863400-129864400	Enhancers	Osteobl	bone
18	chr8:129863600-129866200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:129864000-129866800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:129864200-129866400	Weak transcription	Dnd41	blood
21	chr8:129864200-129866600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:129864200-129866800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:129864200-129873200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:129864200-129873200	Weak transcription	NH-A	brain

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