Variant report

Variant	rs3817442
Chromosome Location	chr11:33797408-33797409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr11:33794953-33797412	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr11:33797131-33797463	GM12878	blood:	n/a	n/a
3	BATF	chr11:33797327-33797677	GM12878	blood:	n/a	chr11:33797541-33797552
4	IKZF1	chr11:33797241-33797408	GM12878	blood:	n/a	n/a
5	EBF1	chr11:33797183-33797757	GM12878	blood:	n/a	n/a
6	MAZ	chr11:33797359-33797754	GM12878	blood:	n/a	n/a
7	IRF4	chr11:33797261-33797770	GM12878	blood:	n/a	n/a
8	JUND	chr11:33797106-33797847	GM12878	blood:	n/a	n/a
9	EP300	chr11:33797401-33797856	GM12878	blood:	n/a	n/a
10	EP300	chr11:33797309-33797780	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:33757743..33759681-chr11:33794774..33797554,2	MCF-7	breast:
2	chr11:33756399..33761777-chr11:33794455..33799644,9	K562	blood:
3	chr11:33756496..33759717-chr11:33794342..33798618,4	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C11orf41-2	chr11:33796800-33797428	NONHSAT018716

No data

Variant related genes	Relation type
ENSG00000255272	TF binding region
FBXO3	TF binding region
ENSG00000085063	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10742306	1.00[CEU][hapmap];0.98[GIH][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs10768028	0.83[CEU][hapmap];0.99[EUR][1000 genomes]
rs11032383	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs11032389	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1112841	0.84[YRI][hapmap]
rs12806824	0.85[YRI][hapmap]
rs2746602	0.84[YRI][hapmap]
rs7107237	0.94[EUR][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	nsv523356	chr11:33777334-33797408	Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3817442	CAPRIN1	cis	cerebellum	SCAN
rs3817442	IMMP1L	cis	cerebellum	SCAN
rs3817442	CD59	cis	lymphoblastoid	seeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33796400-33798200	Flanking Active TSS	GM12878-XiMat	blood
2	chr11:33796800-33797600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:33796800-33797600	Enhancers	Liver	Liver
4	chr11:33796800-33797600	Enhancers	HMEC	breast
5	chr11:33796800-33797600	Enhancers	HSMM	muscle
6	chr11:33796800-33797600	Enhancers	HSMMtube	muscle
7	chr11:33796800-33797600	Enhancers	NH-A	brain
8	chr11:33796800-33797800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr11:33796800-33799800	Weak transcription	Right Atrium	heart
10	chr11:33796800-33799800	Weak transcription	Right Ventricle	heart
11	chr11:33797000-33797600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:33797000-33797600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr11:33797000-33797600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:33797000-33797600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:33797000-33797600	Enhancers	Brain Anterior Caudate	brain
16	chr11:33797000-33797600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr11:33797000-33797600	Enhancers	Hela-S3	cervix
18	chr11:33797000-33797600	Enhancers	NHDF-Ad	bronchial
19	chr11:33797000-33797800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:33797000-33797800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:33797000-33797800	Enhancers	A549	lung
22	chr11:33797000-33798000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:33797000-33798000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:33797000-33798000	Enhancers	NHEK	skin
25	chr11:33797000-33798000	Enhancers	NHLF	lung
26	chr11:33797000-33799600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:33797000-33799800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:33797000-33799800	Weak transcription	Fetal Brain Female	brain
29	chr11:33797200-33797600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr11:33797200-33797800	Enhancers	Rectal Smooth Muscle	rectum
31	chr11:33797200-33798000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr11:33797200-33798000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
33	chr11:33797200-33798000	Enhancers	Stomach Smooth Muscle	stomach
34	chr11:33797200-33798200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:33797200-33798200	Enhancers	Colon Smooth Muscle	Colon
36	chr11:33797200-33799400	Weak transcription	Brain Germinal Matrix	brain
37	chr11:33797200-33799800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:33797200-33799800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:33797200-33799800	Weak transcription	Left Ventricle	heart
40	chr11:33797200-33800000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:33797200-33800800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:33797200-33801600	Weak transcription	Aorta	Aorta
43	chr11:33797200-33801600	Weak transcription	Ovary	ovary
44	chr11:33797400-33799600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:33797400-33800000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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