Variant report

Variant	rs13248300
Chromosome Location	chr8:10926675-10926676
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10911187..10913100-chr8:10924744..10926931,2	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10087767	0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap]
rs10088853	1.00[CHB][hapmap]
rs10089518	1.00[CHB][hapmap]
rs10100660	1.00[CHB][hapmap]
rs10101329	1.00[CHB][hapmap]
rs10110684	1.00[CHB][hapmap]
rs10503417	1.00[CHB][hapmap]
rs10903337	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11250092	1.00[CHB][hapmap]
rs11774266	1.00[ASN][1000 genomes]
rs11775254	1.00[ASN][1000 genomes]
rs11776603	1.00[CHB][hapmap]
rs11776637	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11777887	1.00[CHB][hapmap]
rs11777918	1.00[CHB][hapmap]
rs11778121	1.00[CHB][hapmap]
rs11780798	1.00[ASN][1000 genomes]
rs11783045	1.00[CHB][hapmap]
rs11785392	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs11989369	1.00[CHB][hapmap]
rs12156117	0.83[EUR][1000 genomes]
rs13248014	1.00[CHB][hapmap]
rs13248264	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs13249916	1.00[CHB][hapmap]
rs13251528	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13256743	1.00[CHB][hapmap]
rs13261031	1.00[ASN][1000 genomes]
rs13264636	1.00[ASN][1000 genomes]
rs13265533	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265553	1.00[CHB][hapmap]
rs13273857	1.00[CHB][hapmap]
rs13276708	1.00[CHB][hapmap]
rs13276836	1.00[CHB][hapmap]
rs17152841	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.93[MEX][hapmap]
rs17725480	1.00[CHB][hapmap]
rs17725534	1.00[CHB][hapmap]
rs17726209	1.00[CHB][hapmap]
rs17779791	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.85[TSI][hapmap]
rs17782536	1.00[CHB][hapmap]
rs17782554	1.00[CHB][hapmap]
rs1987190	1.00[CHB][hapmap]
rs2409691	1.00[CHB][hapmap]
rs2409692	1.00[CHB][hapmap]
rs2409693	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2409695	1.00[CHB][hapmap]
rs2409719	1.00[CHB][hapmap]
rs2409720	1.00[CHB][hapmap]
rs2409729	1.00[CHB][hapmap]
rs3021495	1.00[CHB][hapmap]
rs3021497	1.00[CHB][hapmap]
rs34270982	1.00[ASN][1000 genomes]
rs4240671	1.00[CHB][hapmap]
rs4240672	1.00[CHB][hapmap]
rs4291231	1.00[CHB][hapmap]
rs4326350	1.00[CHB][hapmap]
rs4407841	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4451268	1.00[CHB][hapmap]
rs4618656	1.00[CHB][hapmap]
rs4642600	1.00[CHB][hapmap]
rs4840541	0.80[EUR][1000 genomes]
rs4840548	1.00[CHB][hapmap]
rs4841460	1.00[CHB][hapmap]
rs4841484	1.00[ASN][1000 genomes]
rs4841486	1.00[CHB][hapmap]
rs4841487	1.00[ASN][1000 genomes]
rs4841497	1.00[CHB][hapmap]
rs6601556	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601561	1.00[CHB][hapmap]
rs6601563	1.00[CHB][hapmap]
rs67841554	1.00[ASN][1000 genomes]
rs6985109	1.00[CHB][hapmap]
rs7821826	1.00[CHB][hapmap]
rs7821839	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823610	0.81[TSI][hapmap]
rs7832722	1.00[CHB][hapmap]
rs9329238	1.00[CHB][hapmap]
rs9657544	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];0.93[MEX][hapmap];0.84[TSI][hapmap];0.81[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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13248300	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs13248300	CLDN23	cis	multi-tissue	Pritchard

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10922000-10929600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr8:10923800-10927800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:10924600-10929400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:10924800-10931400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:10925000-10929200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:10925000-10930800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:10925000-10931200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:10925000-10931200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:10925000-10941800	Weak transcription	Right Atrium	heart
10	chr8:10925200-10929400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:10925400-10926800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:10925400-10929400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:10925400-10929400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:10925400-10931200	Weak transcription	HSMMtube	muscle
15	chr8:10925600-10926800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:10925600-10929200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:10925600-10929400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:10925600-10935800	Weak transcription	Spleen	Spleen
19	chr8:10925600-10944400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:10925800-10929200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr8:10925800-10929600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:10925800-10929600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:10926000-10929200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:10926000-10931200	Weak transcription	Brain Angular Gyrus	brain
25	chr8:10926200-10929600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:10926200-10931200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:10926400-10927000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr8:10926400-10929200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:10926400-10929400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:10926400-10929600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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