Variant report

Variant	rs13014078
Chromosome Location	chr2:179771858-179771859
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	chr2:179771628..179773744-chr2:179775367..179777094,2	K562	blood:
2	chr2:179769183..179772111-chr2:179772237..179776036,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12467323	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12476741	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12992846	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13021413	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34438177	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177302	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177303	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752223	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760910	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73041940	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7564756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7601902	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875455	chr2:179732845-179909467	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv583756	chr2:179758007-179843612	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1000545	chr2:179768359-179843612	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13014078	CCDC141,LOC285026	cis	brain	BrainEAC

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:179713400-179778600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:179717000-179790600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:179733200-179779200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr2:179749600-179772800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:179749800-179785200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:179751200-179775200	Weak transcription	Pancreas	Pancrea
8	chr2:179761200-179782800	Weak transcription	Right Ventricle	heart
9	chr2:179761800-179774800	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:179762400-179774000	Weak transcription	Fetal Heart	heart
11	chr2:179763000-179775200	Weak transcription	Psoas Muscle	Psoas
12	chr2:179765800-179774200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:179768600-179772200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:179768600-179773000	Strong transcription	Primary T cells from cord blood	blood
15	chr2:179770000-179788600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:179770000-179848200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:179770200-179789200	Weak transcription	Primary B cells from cord blood	blood
18	chr2:179770800-179772200	Strong transcription	HSMMtube	muscle
19	chr2:179771600-179775200	Weak transcription	Left Ventricle	heart
20	chr2:179771600-179781600	Weak transcription	Lung	lung

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