Variant report

Variant	rs11781890
Chromosome Location	chr8:59107029-59107030
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59102071..59103829-chr8:59104945..59107141,2	MCF-7	breast:
2	chr8:59106915..59110868-chr8:59145602..59149155,4	MCF-7	breast:
3	chr8:58909223..58911997-chr8:59106137..59108428,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10096039	0.82[ASN][1000 genomes]
rs10096199	0.82[ASN][1000 genomes]
rs10101975	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10107491	0.81[ASN][1000 genomes]
rs10107691	0.82[ASN][1000 genomes]
rs10109119	0.82[ASN][1000 genomes]
rs10110724	0.82[ASN][1000 genomes]
rs10110841	0.82[ASN][1000 genomes]
rs10808690	0.82[EUR][1000 genomes]
rs10808691	0.82[EUR][1000 genomes]
rs10957035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957036	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10957037	0.99[ASN][1000 genomes]
rs11509962	0.84[ASN][1000 genomes]
rs11774941	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787530	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12375262	0.82[ASN][1000 genomes]
rs12375412	0.82[ASN][1000 genomes]
rs13248396	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13255725	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13261017	0.82[ASN][1000 genomes]
rs1354817	0.82[ASN][1000 genomes]
rs1395615	0.82[ASN][1000 genomes]
rs1507079	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1507082	0.82[ASN][1000 genomes]
rs1911505	0.82[EUR][1000 genomes]
rs2048101	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34585324	0.82[EUR][1000 genomes]
rs4285476	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4531043	0.82[ASN][1000 genomes]
rs4623403	0.80[ASN][1000 genomes]
rs55693283	0.84[ASN][1000 genomes]
rs55921132	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56248540	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471690	0.80[ASN][1000 genomes]
rs6993098	0.82[ASN][1000 genomes]
rs6996832	0.82[ASN][1000 genomes]
rs7010475	0.82[ASN][1000 genomes]
rs7010647	0.82[ASN][1000 genomes]
rs7010816	0.82[ASN][1000 genomes]
rs9643503	0.90[JPT][hapmap]

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	nsv1024575	chr8:59101248-59141010	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11781890	RP1	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59103800-59110400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:59104400-59108400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:59104400-59116200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:59104800-59108000	Weak transcription	NHDF-Ad	bronchial
5	chr8:59105000-59108200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:59105000-59109800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:59105000-59110000	Weak transcription	Fetal Stomach	stomach
8	chr8:59105200-59108000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:59105200-59108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:59105200-59108200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:59105200-59114800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:59105400-59108200	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:59105600-59108400	Weak transcription	HSMM	muscle
14	chr8:59105800-59108200	Weak transcription	NH-A	brain
15	chr8:59105800-59108400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:59105800-59108400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:59106400-59108000	Weak transcription	HMEC	breast
18	chr8:59106600-59108200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:59106600-59109200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:59106800-59108000	Weak transcription	NHEK	skin
21	chr8:59107000-59107400	Enhancers	Hela-S3	cervix
22	chr8:59107000-59108200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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