Variant report

Variant	rs12679405
Chromosome Location	chr8:129867475-129867476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:129860905..129863737-chr8:129866151..129867802,2	MCF-7	breast:
2	chr8:129865860..129869579-chr8:129877876..129880689,4	K562	blood:
3	chr8:129861118..129862963-chr8:129865839..129868302,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10092273	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10094688	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10103995	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10447999	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956447	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10956448	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10956449	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956450	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11782234	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11785020	0.87[EUR][1000 genomes]
rs12547429	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12550594	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12675522	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12676288	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12677710	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12677712	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12678715	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12680246	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13276570	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13277797	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13281755	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1356763	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1441992	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1519839	0.87[EUR][1000 genomes]
rs1519853	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1519854	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1519855	0.83[EUR][1000 genomes]
rs17239733	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17240568	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17240784	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17241323	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17819852	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1879165	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2056313	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2894458	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35526947	0.81[EUR][1000 genomes]
rs35902990	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4593504	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4733652	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4733656	0.98[EUR][1000 genomes]
rs4733657	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6995598	0.98[EUR][1000 genomes]
rs6996154	0.98[EUR][1000 genomes]
rs6999288	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7831440	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7842437	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs871502	0.98[EUR][1000 genomes]
rs9656973	0.81[AMR][1000 genomes];0.85[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	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:26 , 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	chr8:129864200-129873200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:129864200-129873200	Weak transcription	NH-A	brain
4	chr8:129864400-129873400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:129865600-129869000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:129866200-129868200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:129866200-129868400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:129866200-129869200	Enhancers	NHDF-Ad	bronchial
9	chr8:129866400-129868000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:129866400-129869200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:129866600-129867800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:129866600-129867800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:129866600-129868000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:129866600-129868000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:129866600-129868400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:129866600-129869000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:129866600-129873200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:129866800-129867800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:129866800-129868400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:129866800-129868600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:129866800-129869000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:129866800-129869600	Weak transcription	Dnd41	blood
23	chr8:129867000-129868000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:129867200-129867600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:129867200-129873200	Weak transcription	Osteobl	bone
26	chr8:129867400-129867800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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