Variant report

Variant	rs11212657
Chromosome Location	chr11:108338741-108338742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr11:108337581-108338821	GM12891	blood:	n/a	n/a
2	FOXM1	chr11:108337622-108338773	GM12878	blood:	n/a	n/a
3	REST	chr11:108337339-108338890	H1-neurons	neurons:	n/a	chr11:108338203-108338216 chr11:108338206-108338219
4	PML	chr11:108337548-108338742	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:108337703-108338917	K562	blood:	n/a	n/a
6	POLR2A	chr11:108338590-108339004	K562	blood:	n/a	n/a
7	POLR2A	chr11:108337467-108338748	GM19099	blood:	n/a	n/a
8	POLR2A	chr11:108337765-108338823	GM19193	blood:	n/a	n/a
9	POLR2A	chr11:108337006-108338985	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:108336990-108339162	GM12891	blood:	n/a	n/a
11	SIN3AK20	chr11:108337749-108338818	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr11:108337532-108339168	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:108337635-108338759	K562	blood:	n/a	n/a
14	POLR2A	chr11:108337186-108339057	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:108337506-108338760	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:108335947..108339609-chr11:108366598..108369824,4	MCF-7	breast:
2	chr11:108337740..108339717-chr11:108368118..108370036,2	MCF-7	breast:
3	chr11:108336534..108338952-chr17:57918620..57920777,2	MCF-7	breast:
4	chr11:108092141..108094808-chr11:108335621..108340680,5	K562	blood:
5	chr11:108332946..108340923-chr11:108359972..108371658,26	K562	blood:
6	chr11:108338406..108340928-chr11:108356755..108359282,2	K562	blood:
7	chr11:108338149..108340861-chr11:108349302..108352849,3	K562	blood:
8	chr11:108333954..108342521-chr11:108361561..108373383,35	K562	blood:
9	chr11:108092327..108094549-chr11:108338651..108340680,2	K562	blood:

No data

Variant related genes	Relation type
C11orf65	TF binding region
ENSG00000149308	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000149311	Chromatin interaction
ENSG00000178202	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10890833	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs11212588	1.00[AMR][1000 genomes]
rs11212611	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11212673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11822807	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270808	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271975	1.00[AMR][1000 genomes]
rs12272964	0.87[AFR][1000 genomes]
rs12274473	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292677	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293324	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2235003	1.00[AMR][1000 genomes]
rs4987972	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs4988000	1.00[ASW][hapmap];0.85[LWK][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs4988009	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs4988027	1.00[AMR][1000 genomes]
rs4988034	1.00[AMR][1000 genomes]
rs4988074	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs4988096	1.00[AMR][1000 genomes]
rs4988100	1.00[AMR][1000 genomes]
rs59333417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active 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	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108337000-108338800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:108337000-108338800	Active TSS	Colonic Mucosa	Colon
3	chr11:108337000-108338800	Active TSS	Colon Smooth Muscle	Colon
4	chr11:108337000-108338800	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr11:108337000-108338800	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr11:108337000-108339000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:108337000-108339000	Active TSS	Stomach Smooth Muscle	stomach
8	chr11:108337200-108338800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:108337200-108338800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr11:108337200-108338800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr11:108337200-108338800	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:108337200-108338800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:108337200-108338800	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr11:108337200-108338800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:108337200-108338800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:108337200-108338800	Active TSS	Brain Cingulate Gyrus	brain
17	chr11:108337200-108338800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr11:108337200-108338800	Active TSS	Fetal Kidney	kidney
19	chr11:108337200-108338800	Active TSS	Fetal Lung	lung
20	chr11:108337200-108338800	Active TSS	Pancreas	Pancrea
21	chr11:108337200-108338800	Active TSS	Rectal Smooth Muscle	rectum
22	chr11:108337200-108338800	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr11:108337200-108338800	Active TSS	HSMMtube	muscle
24	chr11:108337200-108338800	Active TSS	NHLF	lung
25	chr11:108337200-108339000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:108337200-108339000	Active TSS	Brain Hippocampus Middle	brain
27	chr11:108337200-108339000	Active TSS	Brain Substantia Nigra	brain
28	chr11:108337200-108339000	Active TSS	Fetal Brain Female	brain
29	chr11:108337200-108339000	Active TSS	K562	blood
30	chr11:108337200-108339000	Active TSS	Osteobl	bone
31	chr11:108337200-108339200	Active TSS	NHDF-Ad	bronchial
32	chr11:108337400-108338800	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr11:108337400-108338800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr11:108337400-108338800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:108337400-108338800	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr11:108337400-108338800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr11:108337400-108338800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:108337400-108338800	Active TSS	Aorta	Aorta
39	chr11:108337400-108338800	Active TSS	Brain Angular Gyrus	brain
40	chr11:108337400-108338800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:108337400-108338800	Active TSS	Ovary	ovary
42	chr11:108337400-108338800	Active TSS	Placenta Amnion	Placenta Amnion
43	chr11:108337400-108338800	Active TSS	Right Ventricle	heart
44	chr11:108337400-108338800	Active TSS	GM12878-XiMat	blood
45	chr11:108337400-108338800	Active TSS	Hela-S3	cervix
46	chr11:108337400-108338800	Active TSS	HSMM	muscle
47	chr11:108337400-108339000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:108337400-108339200	Active TSS	Fetal Brain Male	brain
49	chr11:108337400-108339400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:108337600-108338800	Active TSS	Primary T cells from cord blood	blood

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