Variant report

Variant	rs12547393
Chromosome Location	chr8:124117332-124117333
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124113205..124115254-chr8:124116735..124119002,2	K562	blood:
2	chr8:124113359..124117721-chr8:124119367..124124584,5	K562	blood:
3	chr8:124101511..124104352-chr8:124116261..124118453,2	MCF-7	breast:
4	chr8:124115548..124117952-chr8:124139707..124141973,2	K562	blood:

Variant related genes	Relation type
ENSG00000156787	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10101626	1.00[CEU][hapmap];0.94[GIH][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs10505429	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]
rs10808525	0.85[CHB][hapmap];0.87[JPT][hapmap];0.83[TSI][hapmap];0.82[ASN][1000 genomes]
rs10956115	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956118	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545493	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546649	0.85[CHB][hapmap];0.87[JPT][hapmap];0.81[TSI][hapmap];0.82[ASN][1000 genomes]
rs12675780	0.85[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs1670188	0.81[TSI][hapmap]
rs16898012	0.91[TSI][hapmap]
rs17314930	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17376270	0.81[TSI][hapmap]
rs17376305	0.81[TSI][hapmap]
rs2272723	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2385165	0.87[JPT][hapmap];0.88[TSI][hapmap];0.81[ASN][1000 genomes]
rs56673420	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62521779	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6987216	0.81[TSI][hapmap]
rs7000107	0.88[TSI][hapmap]
rs7002086	0.91[TSI][hapmap]
rs7004974	0.96[EUR][1000 genomes]
rs7006638	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7006862	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7008277	0.82[CEU][hapmap]
rs7008474	0.82[TSI][hapmap]
rs7011195	0.81[TSI][hapmap]
rs73713923	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7828295	0.88[TSI][hapmap]
rs7844632	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.96[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12547393	C8orf76	cis	parietal	SCAN
rs12547393	NOV	cis	parietal	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124085800-124118800	Weak transcription	Small Intestine	intestine
2	chr8:124086000-124146400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:124086000-124154600	Weak transcription	Aorta	Aorta
4	chr8:124086000-124158400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:124086000-124168800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:124086000-124169000	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:124086200-124122000	Weak transcription	Spleen	Spleen
8	chr8:124086200-124142200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:124086200-124146400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:124086200-124168800	Weak transcription	Esophagus	oesophagus
11	chr8:124086600-124145200	Weak transcription	Fetal Brain Male	brain
12	chr8:124086600-124168800	Weak transcription	Lung	lung
13	chr8:124087200-124143800	Weak transcription	Fetal Kidney	kidney
14	chr8:124095600-124118000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:124095800-124142800	Weak transcription	Fetal Intestine Small	intestine
16	chr8:124096200-124168800	Weak transcription	Liver	Liver
17	chr8:124096400-124118000	Weak transcription	Brain Anterior Caudate	brain
18	chr8:124097400-124133400	Weak transcription	Left Ventricle	heart
19	chr8:124097400-124166800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:124098400-124166600	Weak transcription	Gastric	stomach
21	chr8:124098600-124145200	Weak transcription	HUVEC	blood vessel
22	chr8:124099000-124166800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:124099200-124119400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:124099400-124118000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:124100000-124149800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:124104600-124117800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:124106000-124119400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr8:124107400-124166800	Weak transcription	Pancreas	Pancrea
29	chr8:124109000-124169000	Weak transcription	Fetal Heart	heart
30	chr8:124109200-124118400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr8:124109400-124143800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:124109800-124118600	Strong transcription	Dnd41	blood
33	chr8:124109800-124124600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:124109800-124124600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:124109800-124141200	Weak transcription	HepG2	liver
36	chr8:124110000-124117600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:124111200-124118000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:124111200-124124200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr8:124111200-124142200	Weak transcription	Osteobl	bone
40	chr8:124111400-124151800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:124111400-124168800	Weak transcription	Brain Germinal Matrix	brain
42	chr8:124112000-124148400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:124112200-124168800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:124112400-124124600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr8:124112400-124149000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:124112600-124119000	Weak transcription	Placenta	Placenta
47	chr8:124112600-124168800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:124112800-124155400	Weak transcription	Brain Hippocampus Middle	brain
49	chr8:124113000-124145200	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:124113600-124135400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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