Variant report

Variant	rs7297927
Chromosome Location	chr12:47770834-47770835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47763219..47766043-chr12:47768327..47771310,3	MCF-7	breast:
2	chr12:47667295..47669429-chr12:47769964..47771855,2	MCF-7	breast:
3	chr12:47475106..47477797-chr12:47770687..47773338,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM113B-8	chr12:47770307-47773362	predAs_engstrom06_BG718375_1

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10785676	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10881097	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10881099	0.82[ASN][1000 genomes]
rs11183919	0.88[ASN][1000 genomes]
rs215384	0.83[CHB][hapmap]
rs4768152	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58058166	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6582705	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7956037	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs929225	0.87[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9971912	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7297927	HDAC7	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47756200-47771000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47762800-47771800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:47763200-47772200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:47763200-47772200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:47766200-47771200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:47766600-47772200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:47770400-47773200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:47770600-47771400	Enhancers	K562	blood
9	chr12:47770600-47772400	Enhancers	Rectal Smooth Muscle	rectum
10	chr12:47770600-47773200	Enhancers	Adipose Nuclei	Adipose
11	chr12:47770600-47773400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:47770800-47771000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:47770800-47771000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:47770800-47771000	Enhancers	Colon Smooth Muscle	Colon
15	chr12:47770800-47771000	Active TSS	Fetal Brain Male	brain
16	chr12:47770800-47771000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr12:47770800-47771200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:47770800-47771200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:47770800-47771200	Active TSS	Brain Anterior Caudate	brain
20	chr12:47770800-47771200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr12:47770800-47771200	Enhancers	A549	lung
22	chr12:47770800-47771200	Enhancers	NHEK	skin
23	chr12:47770800-47771200	Enhancers	Osteobl	bone
24	chr12:47770800-47771400	Enhancers	NHLF	lung
25	chr12:47770800-47771800	Enhancers	Lung	lung
26	chr12:47770800-47771800	Enhancers	NHDF-Ad	bronchial
27	chr12:47770800-47772200	Enhancers	Brain Hippocampus Middle	brain
28	chr12:47770800-47772200	Enhancers	Right Atrium	heart
29	chr12:47770800-47772400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:47770800-47772400	Enhancers	Ovary	ovary
31	chr12:47770800-47773400	Enhancers	Liver	Liver
32	chr12:47770800-47773600	Enhancers	HUVEC	blood vessel

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