Variant report

Variant	rs12154282
Chromosome Location	chr7:112114718-112114719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112088943..112098465-chr7:112111106..112127214,31	K562	blood:
2	chr7:112113015..112114902-chr7:112118169..112120483,2	MCF-7	breast:
3	chr7:112109911..112112772-chr7:112114561..112118551,4	K562	blood:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11763010	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.84[MKK][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11768354	1.00[CHD][hapmap]
rs12155248	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1362	0.92[CEU][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17403123	1.00[CHD][hapmap]
rs67523617	0.81[AMR][1000 genomes]
rs6944024	0.82[AMR][1000 genomes]
rs6963813	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9649354	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv1030033	chr7:112092709-112140430	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12154282	C7orf53	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112092600-112121800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:112094000-112118200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:112094000-112121400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:112094400-112118200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:112094600-112114800	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:112094600-112117000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:112095200-112117400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:112095400-112117200	Strong transcription	Dnd41	blood
9	chr7:112095600-112116400	Strong transcription	NH-A	brain
10	chr7:112095600-112116600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:112095600-112117200	Strong transcription	HSMM	muscle
12	chr7:112095600-112117400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:112095600-112117400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr7:112095600-112117400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:112095600-112118800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:112095800-112117000	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr7:112095800-112117000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr7:112095800-112117400	Strong transcription	Fetal Thymus	thymus
19	chr7:112095800-112118000	Strong transcription	Placenta	Placenta
20	chr7:112095800-112118200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:112095800-112118200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:112096000-112116800	Strong transcription	HUVEC	blood vessel
23	chr7:112096400-112121600	Strong transcription	Liver	Liver
24	chr7:112096400-112121800	Weak transcription	Stomach Mucosa	stomach
25	chr7:112096800-112117600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr7:112100600-112135000	Weak transcription	Esophagus	oesophagus
27	chr7:112101000-112118000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr7:112102400-112117400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:112102600-112117800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:112102800-112116600	Strong transcription	A549	lung
31	chr7:112102800-112119800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr7:112103000-112116600	Strong transcription	HMEC	breast
33	chr7:112103000-112116800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:112103000-112117400	Strong transcription	Adipose Nuclei	Adipose
35	chr7:112103000-112117800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr7:112103000-112118200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:112103000-112118200	Strong transcription	Hela-S3	cervix
38	chr7:112103000-112119600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr7:112103200-112117600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:112103200-112118200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:112103200-112118200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:112103200-112118600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:112103400-112117200	Strong transcription	Osteobl	bone
44	chr7:112103600-112115400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:112103600-112121200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:112103600-112121800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr7:112104600-112118000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:112105600-112121800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr7:112106000-112116800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:112106200-112115400	Strong transcription	Primary hematopoietic stem cells	blood

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