Variant report

Variant	rs7000107
Chromosome Location	chr8:124153517-124153518
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124053453..124055987-chr8:124153447..124156405,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136986	Chromatin interaction
ENSG00000156787	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10101435	0.97[ASN][1000 genomes]
rs10101626	0.88[CHB][hapmap];0.83[JPT][hapmap];0.85[TSI][hapmap];0.83[ASN][1000 genomes]
rs10112138	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10481150	0.89[CHB][hapmap]
rs10505429	0.88[TSI][hapmap]
rs10808525	0.91[CEU][hapmap];0.86[GIH][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs10956118	0.88[TSI][hapmap]
rs12546649	0.95[CEU][hapmap];0.89[GIH][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs12547393	0.88[TSI][hapmap]
rs12675780	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs1670188	0.82[CEU][hapmap];0.82[TSI][hapmap]
rs1670190	0.82[CEU][hapmap]
rs16898012	1.00[CEU][hapmap];0.92[GIH][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1713736	0.91[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap]
rs2272723	0.88[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs2385165	1.00[CEU][hapmap];0.92[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs2385166	1.00[CEU][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6470144	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6984928	0.86[ASN][1000 genomes]
rs7002086	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7004974	0.84[ASN][1000 genomes]
rs7006638	0.83[ASN][1000 genomes]
rs7006862	0.85[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs7008474	0.91[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs7827419	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7828295	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834180	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7844632	0.88[CHB][hapmap];0.83[JPT][hapmap];0.88[TSI][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
6	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
rs7000107	C8orf76	cis	parietal	SCAN
rs7000107	WDR67	cis	parietal	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124086000-124154600	Weak transcription	Aorta	Aorta
2	chr8:124086000-124158400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:124086000-124168800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:124086000-124169000	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:124086200-124168800	Weak transcription	Esophagus	oesophagus
6	chr8:124086600-124168800	Weak transcription	Lung	lung
7	chr8:124096200-124168800	Weak transcription	Liver	Liver
8	chr8:124097400-124166800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:124098400-124166600	Weak transcription	Gastric	stomach
10	chr8:124099000-124166800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:124107400-124166800	Weak transcription	Pancreas	Pancrea
12	chr8:124109000-124169000	Weak transcription	Fetal Heart	heart
13	chr8:124111400-124168800	Weak transcription	Brain Germinal Matrix	brain
14	chr8:124112200-124168800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:124112600-124168800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:124112800-124155400	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:124113600-124169000	Weak transcription	Hela-S3	cervix
18	chr8:124114400-124168800	Weak transcription	Brain Angular Gyrus	brain
19	chr8:124114400-124168800	Weak transcription	Fetal Brain Female	brain
20	chr8:124116200-124156600	Weak transcription	NHEK	skin
21	chr8:124116400-124168800	Weak transcription	Ovary	ovary
22	chr8:124127200-124168800	Weak transcription	Brain Substantia Nigra	brain
23	chr8:124128600-124157000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:124129000-124168800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:124129000-124169000	Weak transcription	Small Intestine	intestine
26	chr8:124132800-124168800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:124133800-124161000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:124134000-124160800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:124134200-124168800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr8:124137600-124164800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:124137600-124164800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr8:124137800-124168800	Weak transcription	Colonic Mucosa	Colon
33	chr8:124138200-124160000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:124138400-124154200	Weak transcription	NHLF	lung
35	chr8:124138400-124160000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr8:124138600-124159400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:124138600-124165800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:124138800-124160000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:124139000-124165600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:124139600-124159400	Strong transcription	Fetal Thymus	thymus
41	chr8:124140400-124168800	Weak transcription	Right Ventricle	heart
42	chr8:124141000-124168800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:124141800-124153600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:124142600-124168800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr8:124142800-124155600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:124144400-124158400	Weak transcription	NHDF-Ad	bronchial
47	chr8:124144400-124165800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:124145600-124168800	Weak transcription	Fetal Brain Male	brain
49	chr8:124146200-124155400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:124146200-124163000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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