Variant report

Variant	rs6993923
Chromosome Location	chr8:102745421-102745422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:55023324..55023846-chr8:102744793..102745466,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12544980	0.89[EUR][1000 genomes]
rs12545512	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12548057	0.84[CEU][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16868250	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs16868262	0.93[GIH][hapmap];0.82[JPT][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap]
rs16868264	0.93[GIH][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap]
rs2226401	0.81[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4734591	0.82[JPT][hapmap]
rs55666620	0.83[EUR][1000 genomes]
rs7460166	0.86[JPT][hapmap]
rs7815256	0.94[YRI][hapmap];0.82[AFR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6993923	KLF10	cis	cerebellum	SCAN
rs6993923	C8orf56	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102713800-102768400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:102730000-102756000	Weak transcription	Psoas Muscle	Psoas
3	chr8:102731600-102752600	Weak transcription	Aorta	Aorta
4	chr8:102732000-102762400	Weak transcription	Lung	lung
5	chr8:102734400-102746000	Weak transcription	Left Ventricle	heart
6	chr8:102735000-102760600	Weak transcription	Liver	Liver
7	chr8:102735400-102752800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:102735400-102757800	Weak transcription	Fetal Stomach	stomach
9	chr8:102735400-102768400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:102735400-102768400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:102735800-102759200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:102738800-102753000	Weak transcription	GM12878-XiMat	blood
13	chr8:102738800-102756800	Weak transcription	Fetal Brain Female	brain
14	chr8:102739200-102747200	Weak transcription	Fetal Kidney	kidney
15	chr8:102739200-102749800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:102742000-102747000	Weak transcription	Right Atrium	heart
17	chr8:102742000-102749400	Weak transcription	Ovary	ovary
18	chr8:102742200-102759200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:102743600-102750800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:102743800-102747600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:102743800-102761800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr8:102744000-102768000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:102744200-102746400	Weak transcription	Right Ventricle	heart
24	chr8:102744400-102746000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:102744400-102752200	Strong transcription	Fetal Muscle Leg	muscle
26	chr8:102745000-102750800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:102745200-102746200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:102745200-102747000	Strong transcription	Fetal Muscle Trunk	muscle

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