Variant report

Variant	rs13085272
Chromosome Location	chr3:42771791-42771792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42746557..42750988-chr3:42768421..42772654,4	K562	blood:
2	chr3:42770931..42773335-chr3:42773656..42775532,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173811	Chromatin interaction
ENSG00000244607	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs12485678	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12486439	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12487055	0.93[CEU][hapmap];0.96[EUR][1000 genomes]
rs12488174	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12490743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12492886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493321	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12495805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13061576	0.87[CEU][hapmap];0.81[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.85[AMR][1000 genomes]
rs13064320	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13072026	0.93[CEU][hapmap];0.81[GIH][hapmap];0.90[TSI][hapmap];0.97[EUR][1000 genomes]
rs13090185	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13095730	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17317763	0.85[CEU][hapmap]
rs1871121	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2240860	0.93[CEU][hapmap];0.90[TSI][hapmap];0.97[EUR][1000 genomes]
rs2290972	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2372111	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2372114	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs339681	0.82[CEU][hapmap]
rs339693	0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs339695	0.86[ASN][1000 genomes]
rs339696	0.86[ASN][1000 genomes]
rs34025253	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34188562	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34336220	0.85[AMR][1000 genomes]
rs34482203	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34510173	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34648075	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34974363	0.85[AMR][1000 genomes]
rs35389123	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35488977	0.85[AMR][1000 genomes]
rs35647815	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35659560	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35697625	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35766391	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36061398	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3912102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3912103	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3916333	0.95[EUR][1000 genomes]
rs4488806	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55799024	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56232384	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56978598	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62246602	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62246607	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62246631	0.85[AMR][1000 genomes]
rs62250122	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66665035	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6765740	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6779396	0.97[EUR][1000 genomes]
rs6799524	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7429327	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7617368	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013578	chr3:42747858-42817321	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv999713	chr3:42749022-42817321	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13085272	CCDC13-AS1	cis	Thyroid	GTEx
rs13085272	CCDC13	cis	Thyroid	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42760400-42773600	Enhancers	Brain Substantia Nigra	brain
2	chr3:42763600-42773600	Enhancers	Brain Anterior Caudate	brain
3	chr3:42763600-42774800	Enhancers	Brain Angular Gyrus	brain
4	chr3:42765000-42772600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:42767600-42772600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:42767800-42774400	Enhancers	Brain Cingulate Gyrus	brain
7	chr3:42768600-42776000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr3:42769000-42773600	Enhancers	Brain Hippocampus Middle	brain
9	chr3:42769000-42774200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr3:42769000-42774800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:42769000-42775000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr3:42769600-42785600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr3:42769800-42773200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:42769800-42774200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:42769800-42787600	Weak transcription	Gastric	stomach
16	chr3:42770200-42772600	Enhancers	Left Ventricle	heart
17	chr3:42770200-42774200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:42770600-42775600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr3:42770800-42773400	Enhancers	Fetal Heart	heart
20	chr3:42771000-42771800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr3:42771000-42772200	Enhancers	Psoas Muscle	Psoas
22	chr3:42771000-42774000	Enhancers	Right Ventricle	heart
23	chr3:42771000-42774200	Enhancers	Right Atrium	heart
24	chr3:42771200-42773400	Enhancers	HepG2	liver
25	chr3:42771200-42775800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:42771400-42771800	Enhancers	Colon Smooth Muscle	Colon
27	chr3:42771600-42773200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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