Variant report

Variant	rs5754752
Chromosome Location	chr22:34293516-34293517
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	chr22:34262180..34264985-chr22:34291444..34294296,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1005679	0.92[CHB][hapmap]
rs1540292	0.81[CHD][hapmap]
rs16993248	0.92[CHB][hapmap]
rs2157153	0.83[AMR][1000 genomes]
rs2213360	0.84[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2267312	0.92[CHB][hapmap];0.81[CHD][hapmap]
rs2267313	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2267314	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.99[ASN][1000 genomes]
rs2267315	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2267316	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2283957	0.92[CHB][hapmap];0.81[CHD][hapmap]
rs2283958	0.92[CHB][hapmap]
rs2283959	0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3919426	0.99[ASN][1000 genomes]
rs5754748	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv588938	chr22:34270568-34307875	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5754752	ASCC2	cis	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34286400-34296600	Weak transcription	Adipose Nuclei	Adipose
2	chr22:34287400-34294400	Weak transcription	Fetal Brain Male	brain
3	chr22:34287800-34298600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr22:34287800-34299000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr22:34288200-34295000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr22:34288200-34303000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:34289800-34296400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:34289800-34299200	Enhancers	Right Ventricle	heart
9	chr22:34290200-34303800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:34291000-34304200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr22:34291200-34295600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr22:34291200-34304200	Weak transcription	Brain Anterior Caudate	brain
13	chr22:34291200-34312800	Weak transcription	HepG2	liver
14	chr22:34291400-34294000	Weak transcription	Psoas Muscle	Psoas
15	chr22:34291600-34294000	Flanking Active TSS	GM12878-XiMat	blood
16	chr22:34291600-34303400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr22:34291800-34297800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr22:34291800-34305000	Weak transcription	Fetal Intestine Small	intestine
19	chr22:34291800-34313800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr22:34292000-34293600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:34292000-34296600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr22:34292000-34304000	Weak transcription	Fetal Stomach	stomach
23	chr22:34292200-34293600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr22:34292200-34294200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr22:34292400-34294000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr22:34292400-34294400	Enhancers	Primary B cells from peripheral blood	blood
27	chr22:34292400-34297600	Enhancers	Right Atrium	heart
28	chr22:34292400-34299200	Enhancers	Ovary	ovary
29	chr22:34292600-34293600	Enhancers	Brain Angular Gyrus	brain
30	chr22:34292600-34293600	Enhancers	HSMMtube	muscle
31	chr22:34292600-34293800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr22:34292600-34295600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr22:34292600-34295800	Enhancers	Lung	lung
34	chr22:34292600-34297400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr22:34292800-34293600	Enhancers	Esophagus	oesophagus
36	chr22:34292800-34293600	Enhancers	Stomach Mucosa	stomach
37	chr22:34292800-34293600	Enhancers	NHDF-Ad	bronchial
38	chr22:34292800-34293800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:34292800-34293800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr22:34292800-34293800	Enhancers	Gastric	stomach
41	chr22:34292800-34293800	Enhancers	HSMM	muscle
42	chr22:34292800-34296600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr22:34292800-34299200	Enhancers	Left Ventricle	heart
44	chr22:34293000-34293600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr22:34293000-34293600	Enhancers	Spleen	Spleen
46	chr22:34293000-34293800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr22:34293000-34294200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr22:34293000-34294200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr22:34293000-34294400	Enhancers	Fetal Lung	lung
50	chr22:34293200-34293600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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