Variant report

Variant	rs7310552
Chromosome Location	chr12:48303859-48303860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48301680..48304083-chr12:48309800..48311806,2	MCF-7	breast:
2	chr12:48303456..48306045-chr12:48319476..48321750,3	MCF-7	breast:
3	chr12:48291415..48293817-chr12:48302480..48304953,2	K562	blood:
4	chr12:48299753..48302171-chr12:48303242..48305976,2	K562	blood:
5	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10875696	1.00[CHB][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168297	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614332	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4516035	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760658	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs4760671	0.82[ASW][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap];1.00[YRI][hapmap]
rs7139166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296550	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7311856	0.82[ASW][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap];1.00[YRI][hapmap]
rs7970314	1.00[YRI][hapmap]

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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7310552	C12orf68	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48299600-48304200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:48299800-48304000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:48300000-48307200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr12:48301600-48304800	Enhancers	Fetal Intestine Small	intestine
5	chr12:48301800-48304800	Enhancers	Fetal Intestine Large	intestine
6	chr12:48302000-48304200	Weak transcription	HSMMtube	muscle
7	chr12:48302600-48306400	Enhancers	Placenta	Placenta
8	chr12:48302800-48305400	Weak transcription	Colonic Mucosa	Colon
9	chr12:48302800-48305400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:48303200-48304800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:48303200-48305000	Enhancers	NHDF-Ad	bronchial
12	chr12:48303400-48305000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:48303400-48305000	Enhancers	NHEK	skin
14	chr12:48303400-48305200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:48303400-48306000	Enhancers	Duodenum Mucosa	Duodenum
16	chr12:48303600-48304200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:48303600-48304600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:48303600-48304600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:48303600-48304600	Flanking Active TSS	HepG2	liver
20	chr12:48303600-48304800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:48303600-48304800	Enhancers	HMEC	breast
22	chr12:48303600-48305400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:48303800-48304200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr12:48303800-48304400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:48303800-48304400	Enhancers	Adipose Nuclei	Adipose
26	chr12:48303800-48304600	Enhancers	Small Intestine	intestine
27	chr12:48303800-48304600	Enhancers	Osteobl	bone
28	chr12:48303800-48304800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:48303800-48304800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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