Variant report

Variant	rs11768354
Chromosome Location	chr7:112094085-112094086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:112093193-112094096	HepG2	liver:	n/a	n/a
2	STAT3	chr7:112093581-112094108	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F4	chr7:112093802-112094176	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr7:112093376-112094174	HepG2	liver:	n/a	n/a
5	JUND	chr7:112093568-112094153	HepG2	liver:	n/a	chr7:112093732-112093741 chr7:112094054-112094063 chr7:112094053-112094065 chr7:112094056-112094067
6	ARID3A	chr7:112093984-112094184	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:112093634-112094086	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:112048216..112051136-chr7:112094029..112095591,2	K562	blood:
2	chr7:112088943..112098465-chr7:112111106..112127214,31	K562	blood:
3	chr7:112089471..112094125-chr7:112120459..112123941,5	MCF-7	breast:
4	chr7:112089375..112094700-chr7:112096975..112100569,9	MCF-7	breast:
5	chr7:111806034..111807822-chr7:112092535..112095230,2	K562	blood:
6	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:

Variant related genes	Relation type
IFRD1	TF binding region
ENSG00000181016	Chromatin interaction
ENSG00000226851	Chromatin interaction
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11763010	1.00[CHD][hapmap]
rs12154282	1.00[CHD][hapmap]
rs12537583	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17403123	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35126987	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60461435	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67523617	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6944024	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9649354	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv1801262	chr7:112071795-112104179	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11768354	C7orf53	cis	cerebellum	SCAN
rs11768354	IFRD1	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112089600-112094200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr7:112089600-112094200	Active TSS	Psoas Muscle	Psoas
3	chr7:112089800-112094400	Active TSS	Right Ventricle	heart
4	chr7:112089800-112094800	Active TSS	GM12878-XiMat	blood
5	chr7:112090000-112094600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:112090200-112094200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:112091400-112094600	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr7:112091600-112094400	Active TSS	Right Atrium	heart
9	chr7:112091800-112094200	Flanking Active TSS	Dnd41	blood
10	chr7:112091800-112094600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:112092000-112094400	Enhancers	Fetal Heart	heart
12	chr7:112092000-112094600	Enhancers	Small Intestine	intestine
13	chr7:112092200-112094200	Flanking Active TSS	Osteobl	bone
14	chr7:112092400-112094200	Flanking Active TSS	NH-A	brain
15	chr7:112092400-112094400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr7:112092400-112094600	Enhancers	Fetal Brain Male	brain
17	chr7:112092600-112094200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:112092600-112094200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:112092600-112094200	Enhancers	Fetal Lung	lung
20	chr7:112092600-112094400	Weak transcription	Lung	lung
21	chr7:112092600-112094600	Enhancers	Brain Angular Gyrus	brain
22	chr7:112092600-112094600	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr7:112092600-112095400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:112092600-112095800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr7:112092600-112095800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr7:112092600-112095800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:112092600-112095800	Weak transcription	Placenta	Placenta
28	chr7:112092600-112098800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:112092600-112099000	Weak transcription	Spleen	Spleen
30	chr7:112092600-112099800	Weak transcription	Esophagus	oesophagus
31	chr7:112092600-112099800	Weak transcription	Gastric	stomach
32	chr7:112092600-112102400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:112092600-112109800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:112092600-112121800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:112092800-112094200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr7:112092800-112094200	Weak transcription	Pancreas	Pancrea
37	chr7:112092800-112094400	Enhancers	Brain Substantia Nigra	brain
38	chr7:112092800-112094600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:112092800-112094600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr7:112092800-112094800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr7:112092800-112095000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:112092800-112095800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:112092800-112097000	Weak transcription	Colonic Mucosa	Colon
44	chr7:112093000-112094200	Enhancers	HSMM	muscle
45	chr7:112093000-112094400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr7:112093000-112094400	Enhancers	Brain Cingulate Gyrus	brain
47	chr7:112093000-112094400	Enhancers	Fetal Intestine Small	intestine
48	chr7:112093000-112094600	Enhancers	Fetal Intestine Large	intestine
49	chr7:112093000-112094800	Enhancers	Colon Smooth Muscle	Colon
50	chr7:112093000-112094800	Active TSS	Pancreatic Islets	Pancreatic Islet

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