Variant report

Variant	rs1892952
Chromosome Location	chr11:76364726-76364727
allele	A/G
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	MAZ	chr11:76364601-76366479	IMR90	lung:	n/a	n/a
2	CTCF	chr11:76364640-76364790	AG10803	skin:	n/a	n/a
3	MXI1	chr11:76364082-76366054	IMR90	lung:	n/a	n/a
4	RCOR1	chr11:76364662-76366666	IMR90	lung:	n/a	n/a
5	CEBPB	chr11:76364486-76365292	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:76357796..76360555-chr11:76361660..76365376,3	MCF-7	breast:
2	chr11:76364167..76367346-chr11:76381295..76383595,3	K562	blood:
3	chr11:76341027..76343056-chr11:76363674..76366341,2	K562	blood:

Variant related genes	Relation type
ENSG00000236304	TF binding region
ENSG00000255363	Chromatin interaction
ENSG00000137507	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10751258	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11236828	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11602112	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11602550	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4944113	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4945095	0.85[AMR][1000 genomes]
rs7936603	0.82[AMR][1000 genomes]
rs7946449	0.83[AMR][1000 genomes]
rs7950838	0.80[CHD][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]

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	nsv1043912	chr11:76301316-76439095	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1039451	chr11:76301316-76440221	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1810781	chr11:76311021-76464814	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv555448	chr11:76354115-76383806	Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1892952	INTS4	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76350800-76365000	Weak transcription	Lung	lung
2	chr11:76359200-76364800	Weak transcription	Right Atrium	heart
3	chr11:76361400-76364800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:76361400-76364800	Weak transcription	Left Ventricle	heart
5	chr11:76361400-76365200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:76361400-76365200	Weak transcription	Fetal Heart	heart
7	chr11:76361400-76365200	Weak transcription	Right Ventricle	heart
8	chr11:76361600-76364800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:76361800-76364800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:76361800-76364800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:76363800-76364800	Enhancers	Fetal Lung	lung
12	chr11:76363800-76364800	Weak transcription	Spleen	Spleen
13	chr11:76363800-76366000	Enhancers	Fetal Kidney	kidney
14	chr11:76363800-76366000	Enhancers	Fetal Stomach	stomach
15	chr11:76364000-76366600	Enhancers	Placenta	Placenta
16	chr11:76364000-76368000	Enhancers	Fetal Intestine Large	intestine
17	chr11:76364000-76368200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:76364000-76368400	Enhancers	Fetal Muscle Trunk	muscle
19	chr11:76364200-76364800	Enhancers	NHDF-Ad	bronchial
20	chr11:76364200-76365000	Enhancers	Adipose Nuclei	Adipose
21	chr11:76364200-76365200	Enhancers	Colon Smooth Muscle	Colon
22	chr11:76364200-76365200	Enhancers	Fetal Intestine Small	intestine
23	chr11:76364200-76366400	Enhancers	Fetal Brain Male	brain
24	chr11:76364200-76367200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:76364200-76368000	Enhancers	Ovary	ovary
26	chr11:76364200-76368400	Enhancers	Colonic Mucosa	Colon
27	chr11:76364200-76368400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr11:76364200-76368600	Enhancers	Fetal Muscle Leg	muscle
29	chr11:76364400-76364800	Enhancers	Brain Anterior Caudate	brain
30	chr11:76364400-76364800	Enhancers	Stomach Smooth Muscle	stomach
31	chr11:76364400-76365200	Enhancers	Brain Cingulate Gyrus	brain
32	chr11:76364400-76365200	Enhancers	Rectal Smooth Muscle	rectum
33	chr11:76364400-76365200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr11:76364400-76365400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:76364400-76366200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:76364400-76366200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr11:76364400-76366800	Enhancers	Aorta	Aorta
38	chr11:76364400-76368200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:76364600-76364800	Enhancers	NHLF	lung
40	chr11:76364600-76366000	Enhancers	Fetal Brain Female	brain
41	chr11:76364600-76368600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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