Variant report

Variant	rs10505429
Chromosome Location	chr8:124145469-124145470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124144944..124147685-chr8:124154381..124156517,2	K562	blood:
2	chr8:124136612..124138190-chr8:124144199..124146397,2	K562	blood:
3	chr8:124131028..124133597-chr8:124144935..124147901,2	K562	blood:
4	chr8:124134100..124136026-chr8:124142874..124145469,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253463	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10101626	1.00[CEU][hapmap];0.97[GIH][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10112138	0.81[ASN][1000 genomes]
rs10808525	0.83[TSI][hapmap]
rs10956115	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10956118	0.94[CEU][hapmap];0.97[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11781124	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs12545493	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12546649	0.81[TSI][hapmap]
rs12547393	1.00[CEU][hapmap];0.97[GIH][hapmap];0.89[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1670188	0.81[GIH][hapmap];0.81[TSI][hapmap]
rs1670190	0.81[GIH][hapmap]
rs16898012	0.84[CHB][hapmap];0.91[TSI][hapmap];0.81[ASN][1000 genomes]
rs17314930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17376270	0.81[TSI][hapmap]
rs17376305	0.81[TSI][hapmap]
rs2272723	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2272724	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs2385165	0.88[TSI][hapmap]
rs2385166	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs56673420	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521779	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6470143	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs6987216	0.81[TSI][hapmap]
rs6991182	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs6991323	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs7000107	0.88[TSI][hapmap]
rs7002086	0.91[TSI][hapmap]
rs7004974	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7006638	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7006862	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008277	0.82[CEU][hapmap]
rs7008474	0.82[TSI][hapmap]
rs7011195	0.81[TSI][hapmap]
rs73713923	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7818440	0.81[ASN][1000 genomes]
rs7828295	0.88[TSI][hapmap]
rs7833077	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs7844632	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1015490	chr8:124103255-124150990	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	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
7	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10505429	C8orf76	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124086000-124146400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:124086000-124154600	Weak transcription	Aorta	Aorta
3	chr8:124086000-124158400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:124086000-124168800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:124086000-124169000	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:124086200-124146400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:124086200-124168800	Weak transcription	Esophagus	oesophagus
8	chr8:124086600-124168800	Weak transcription	Lung	lung
9	chr8:124096200-124168800	Weak transcription	Liver	Liver
10	chr8:124097400-124166800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:124098400-124166600	Weak transcription	Gastric	stomach
12	chr8:124099000-124166800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:124100000-124149800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:124107400-124166800	Weak transcription	Pancreas	Pancrea
15	chr8:124109000-124169000	Weak transcription	Fetal Heart	heart
16	chr8:124111400-124151800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:124111400-124168800	Weak transcription	Brain Germinal Matrix	brain
18	chr8:124112000-124148400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:124112200-124168800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:124112400-124149000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:124112600-124168800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:124112800-124155400	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:124113600-124169000	Weak transcription	Hela-S3	cervix
24	chr8:124114200-124146400	Weak transcription	Fetal Stomach	stomach
25	chr8:124114200-124149000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:124114400-124168800	Weak transcription	Brain Angular Gyrus	brain
27	chr8:124114400-124168800	Weak transcription	Fetal Brain Female	brain
28	chr8:124114600-124152600	Weak transcription	Psoas Muscle	Psoas
29	chr8:124115400-124147200	Weak transcription	Fetal Intestine Large	intestine
30	chr8:124115400-124149600	Weak transcription	HMEC	breast
31	chr8:124116200-124156600	Weak transcription	NHEK	skin
32	chr8:124116400-124168800	Weak transcription	Ovary	ovary
33	chr8:124118600-124149400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:124126800-124146400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:124127200-124168800	Weak transcription	Brain Substantia Nigra	brain
36	chr8:124128600-124157000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:124129000-124168800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:124129000-124169000	Weak transcription	Small Intestine	intestine
39	chr8:124132400-124151800	Weak transcription	HSMMtube	muscle
40	chr8:124132600-124146400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:124132800-124153200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr8:124132800-124168800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr8:124133800-124161000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr8:124134000-124160800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:124134200-124168800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr8:124135600-124152000	Weak transcription	Placenta	Placenta
47	chr8:124136800-124146600	Weak transcription	NH-A	brain
48	chr8:124137400-124149000	Weak transcription	Fetal Lung	lung
49	chr8:124137600-124164800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:124137600-124164800	Strong transcription	Monocytes-CD14+_RO01746	blood

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