Variant report

Variant	rs1155457
Chromosome Location	chr12:47790312-47790313
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	chr12:47712650..47714735-chr12:47790179..47791919,2	MCF-7	breast:
2	chr12:47776547..47778340-chr12:47788704..47790510,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10748471	0.80[CEU][hapmap];0.82[AMR][1000 genomes]
rs10881106	1.00[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183872	1.00[YRI][hapmap]
rs1468195	0.89[CEU][hapmap];0.95[MEX][hapmap];0.83[AMR][1000 genomes]
rs1919725	0.83[AMR][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1155457	ARID2	cis	cerebellum	SCAN
rs1155457	C12orf54	cis	parietal	SCAN
rs1155457	HDAC7	cis	cerebellum	SCAN
rs1155457	TMEM117	cis	cerebellum	SCAN
rs1155457	RAPGEF3	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47778000-47790600	Weak transcription	Right Atrium	heart
2	chr12:47784000-47791200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr12:47784600-47791800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr12:47785400-47791000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:47785800-47790400	Weak transcription	Hela-S3	cervix
6	chr12:47786200-47790400	Weak transcription	Spleen	Spleen
7	chr12:47787400-47790800	Weak transcription	Liver	Liver
8	chr12:47787600-47790400	Weak transcription	Primary T cells from cord blood	blood
9	chr12:47787600-47790600	Weak transcription	Adipose Nuclei	Adipose
10	chr12:47787600-47790800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:47787600-47791000	Enhancers	A549	lung
12	chr12:47788000-47790600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:47788000-47795400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:47788400-47791000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:47788400-47791000	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:47788800-47791400	Enhancers	Osteobl	bone
17	chr12:47788800-47792000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:47789000-47790800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:47789000-47791600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:47789400-47790400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:47789400-47790400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr12:47789400-47790400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:47789400-47790600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:47789400-47790800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:47789600-47794000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:47790000-47790600	Enhancers	HSMM	muscle
27	chr12:47790000-47791600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:47790200-47790400	Enhancers	HMEC	breast
29	chr12:47790200-47790800	Enhancers	NHDF-Ad	bronchial
30	chr12:47790200-47791200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
31	chr12:47790200-47791400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
32	chr12:47790200-47791600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr12:47790200-47791800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
34	chr12:47790200-47791800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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