Variant report

Variant	rs6986404
Chromosome Location	chr8:125765116-125765117
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125760144..125761703-chr8:125762855..125765412,2	MCF-7	breast:
2	chr8:125764175..125766325-chr8:125793674..125795274,2	MCF-7	breast:
3	chr8:125759234..125761898-chr8:125763537..125765246,2	K562	blood:
4	chr8:125739254..125742365-chr8:125764886..125767870,3	MCF-7	breast:
5	chr8:125549640..125552383-chr8:125762856..125765386,2	MCF-7	breast:
6	chr8:125570504..125573139-chr8:125763957..125765886,2	K562	blood:
7	chr8:125739315..125742031-chr8:125763198..125766273,5	MCF-7	breast:
8	chr8:125763897..125765849-chr8:125769752..125772149,2	K562	blood:
9	chr8:125759783..125761940-chr8:125763482..125765437,3	K562	blood:
10	chr8:125764622..125767055-chr8:125770955..125773906,2	MCF-7	breast:
11	chr8:125763903..125766789-chr8:125789661..125792585,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147687	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13270557	0.83[ASN][1000 genomes]
rs13279462	0.99[EUR][1000 genomes]
rs16900004	0.86[LWK][hapmap]
rs35999233	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4242366	0.99[EUR][1000 genomes]
rs4870926	0.87[ASN][1000 genomes]
rs4871534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871536	0.82[ASN][1000 genomes]
rs4871537	0.82[ASN][1000 genomes]
rs4871538	0.82[ASN][1000 genomes]
rs4871539	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4871540	0.94[EUR][1000 genomes]
rs6470269	0.81[JPT][hapmap]
rs7013867	0.99[EUR][1000 genomes]
rs7823383	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7833381	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7833511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7841287	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs891540	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv517427	chr8:125749707-125766271	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6986404	ATAD2	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125761400-125766200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:125761600-125772200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:125762600-125765400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr8:125762800-125765800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:125763200-125767400	Weak transcription	Right Atrium	heart
6	chr8:125763800-125765400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:125763800-125767800	Enhancers	HSMMtube	muscle
8	chr8:125764000-125765200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:125764000-125767600	Enhancers	HSMM	muscle
10	chr8:125764400-125767000	Weak transcription	Pancreas	Pancrea
11	chr8:125764600-125767000	Weak transcription	HepG2	liver
12	chr8:125764600-125767400	Weak transcription	Left Ventricle	heart
13	chr8:125764600-125767400	Weak transcription	Psoas Muscle	Psoas
14	chr8:125764800-125765400	Weak transcription	Right Ventricle	heart
15	chr8:125764800-125765400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr8:125764800-125765800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:125764800-125765800	Weak transcription	Fetal Heart	heart
18	chr8:125764800-125765800	Weak transcription	Spleen	Spleen
19	chr8:125764800-125766800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:125764800-125767000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:125764800-125767000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:125764800-125768600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:125764800-125769400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr8:125764800-125773600	Weak transcription	NHDF-Ad	bronchial
25	chr8:125765000-125766800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:125765000-125766800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:125765000-125766800	Weak transcription	NH-A	brain
28	chr8:125765000-125767000	Weak transcription	Osteobl	bone
29	chr8:125765000-125773600	Weak transcription	Muscle Satellite Cultured Cells	--

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