Variant report

Variant	rs11779458
Chromosome Location	chr8:124214051-124214052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124213969..124215797-chr8:124285287..124287584,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf76-1	chr8:124213884-124214222	ENSG00000204949.4
2	lnc-C8orf76-1	chr8:124213412-124214222	ENSG00000204949.4

Variant related genes	Relation type
ENSG00000165156	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1044714	0.90[JPT][hapmap];0.81[MEX][hapmap]
rs11779971	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11782844	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs11782961	0.83[MEX][hapmap]
rs11783554	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11786273	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985341	0.86[AFR][1000 genomes]
rs13248086	0.83[CEU][hapmap];0.83[MEX][hapmap]
rs13270162	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs13271849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16898130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17377283	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17377409	0.88[EUR][1000 genomes]
rs34704426	0.88[EUR][1000 genomes]
rs34947160	0.88[EUR][1000 genomes]
rs35456955	0.90[EUR][1000 genomes]
rs55724085	0.88[EUR][1000 genomes]
rs62521846	0.88[EUR][1000 genomes]
rs62521847	0.88[EUR][1000 genomes]
rs62521850	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6997530	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6997717	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6997816	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7003842	0.88[EUR][1000 genomes]
rs71514800	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7812683	0.88[EUR][1000 genomes]
rs7813460	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7813708	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs7814154	0.88[EUR][1000 genomes]
rs7814186	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7817153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7817345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7833092	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs9693914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11779458	WDR67	cis	parietal	SCAN
rs11779458	C8orf76	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124193400-124241200	Weak transcription	Right Atrium	heart
2	chr8:124199800-124216600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:124201600-124216000	Strong transcription	NHEK	skin
4	chr8:124201600-124216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:124205200-124217600	Weak transcription	Gastric	stomach
6	chr8:124206200-124215200	Strong transcription	Hela-S3	cervix
7	chr8:124209800-124217200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:124209800-124217600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:124210000-124214600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:124210000-124215800	Strong transcription	K562	blood
11	chr8:124210800-124217400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:124210800-124217600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:124211200-124217400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:124212600-124214600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:124212800-124231600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:124213400-124214200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:124213400-124214200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr8:124213400-124214200	Strong transcription	HMEC	breast
19	chr8:124213600-124214200	Genic enhancers	Esophagus	oesophagus
20	chr8:124213600-124214200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr8:124213600-124214400	Active TSS	Liver	Liver
22	chr8:124214000-124214200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr8:124214000-124214200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr8:124214000-124214400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:124214000-124217400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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