Variant report

Variant	rs12894080
Chromosome Location	chr14:68824721-68824722
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68818141..68819733-chr14:68823744..68826518,2	MCF-7	breast:
2	chr14:68823758..68825352-chr14:69246991..69249510,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10146321	0.80[MEX][hapmap]
rs11158732	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11158743	0.90[MEX][hapmap]
rs11624613	0.84[EUR][1000 genomes]
rs11628653	0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs12432583	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12435322	0.85[EUR][1000 genomes]
rs12717531	0.90[MEX][hapmap]
rs12889666	0.81[CEU][hapmap];0.80[MEX][hapmap]
rs12889770	0.81[CEU][hapmap];0.80[MEX][hapmap]
rs12890360	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2331694	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs3784117	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap]
rs3784120	0.80[MEX][hapmap]
rs4902574	1.00[GIH][hapmap]
rs4902576	0.81[CEU][hapmap]
rs4902577	0.81[CEU][hapmap]
rs7401281	0.90[AMR][1000 genomes]
rs927221	0.90[CEU][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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv564962	chr14:68795209-68837882	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12894080	ACTN1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68811000-68829800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr14:68813600-68825600	Weak transcription	Primary B cells from cord blood	blood
3	chr14:68816400-68826000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr14:68816400-68826200	Weak transcription	Pancreas	Pancrea
5	chr14:68816600-68825600	Weak transcription	Fetal Thymus	thymus
6	chr14:68816600-68826600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:68816800-68825000	Weak transcription	Aorta	Aorta
8	chr14:68817400-68825000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:68817400-68826200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr14:68818600-68825600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:68820400-68824800	Weak transcription	Fetal Lung	lung
12	chr14:68824400-68825000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr14:68824400-68825400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:68824400-68827200	Enhancers	Fetal Kidney	kidney
15	chr14:68824400-68828600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:68824400-68829400	Enhancers	Primary T cells from cord blood	blood
17	chr14:68824600-68824800	Enhancers	Brain Cingulate Gyrus	brain
18	chr14:68824600-68824800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:68824600-68825800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr14:68824600-68828000	Enhancers	Cortex derived primary cultured neurospheres	brain

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