Variant report

Variant	rs185314725
Chromosome Location	chr11:47929991-47929992
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	CEBPB	chr11:47929776-47930119	A549	lung:	n/a	chr11:47929938-47929949
2	RFX5	chr11:47929824-47930132	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr11:47929773-47930149	HepG2	liver:	n/a	chr11:47929938-47929949
4	CEBPB	chr11:47929777-47930126	IMR90	lung:	n/a	chr11:47929938-47929949
5	CEBPB	chr11:47929746-47930166	K562	blood:	n/a	chr11:47929938-47929949
6	EP300	chr11:47929754-47930177	Hela-S3	cervix:	n/a	chr11:47929769-47929783
7	CEBPB	chr11:47929756-47930140	K562	blood:	n/a	chr11:47929938-47929949
8	RCOR1	chr11:47929803-47930159	Hela-S3	cervix:	n/a	n/a
9	RUNX3	chr11:47929709-47930157	GM12878	blood:	n/a	n/a
10	BATF	chr11:47929798-47930037	GM12878	blood:	n/a	n/a
11	SMC3	chr11:47929886-47930006	HepG2	liver:	n/a	n/a
12	CEBPB	chr11:47929738-47930205	Hela-S3	cervix:	n/a	chr11:47929938-47929949
13	RAD21	chr11:47929797-47930108	Hela-S3	cervix:	n/a	n/a
14	BCLAF1	chr11:47929747-47930054	GM12878	blood:	n/a	chr11:47929774-47929783
15	MAX	chr11:47929753-47930084	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr11:47929763-47930052	K562	blood:	n/a	chr11:47929938-47929949
17	SMC3	chr11:47929806-47930156	Hela-S3	cervix:	n/a	n/a
18	USF2	chr11:47929833-47930024	Hela-S3	cervix:	n/a	n/a
19	STAT3	chr11:47929796-47930135	Hela-S3	cervix:	n/a	n/a
20	RUNX3	chr11:47929704-47930133	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254780	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47922200-47930000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr11:47925600-47943200	Enhancers	Placenta	Placenta
3	chr11:47927200-47942800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:47927800-47935000	Weak transcription	K562	blood
5	chr11:47927800-47936600	Weak transcription	Thymus	Thymus
6	chr11:47928200-47936800	Weak transcription	Fetal Muscle Leg	muscle
7	chr11:47928600-47930200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr11:47928600-47930600	Enhancers	NHDF-Ad	bronchial
9	chr11:47928600-47930600	Enhancers	Osteobl	bone
10	chr11:47929000-47930400	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:47929000-47935600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:47929200-47930200	Enhancers	Spleen	Spleen
13	chr11:47929200-47930400	Enhancers	Fetal Intestine Small	intestine
14	chr11:47929200-47930400	Enhancers	Hela-S3	cervix
15	chr11:47929200-47931600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr11:47929400-47930000	Weak transcription	HSMMtube	muscle
17	chr11:47929400-47930200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:47929400-47930800	Enhancers	Primary B cells from cord blood	blood
19	chr11:47929600-47930000	Weak transcription	Pancreas	Pancrea
20	chr11:47929600-47930000	Weak transcription	HSMM	muscle
21	chr11:47929600-47930200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:47929600-47930200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:47929600-47930200	Enhancers	Adipose Nuclei	Adipose
24	chr11:47929600-47930200	Enhancers	Lung	lung
25	chr11:47929600-47930400	Enhancers	Fetal Intestine Large	intestine
26	chr11:47929600-47931600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr11:47929600-47932400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:47929800-47930000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:47929800-47930000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:47929800-47930200	Enhancers	A549	lung
31	chr11:47929800-47930200	Flanking Active TSS	GM12878-XiMat	blood
32	chr11:47929800-47930200	Enhancers	HUVEC	blood vessel
33	chr11:47929800-47930200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr11:47929800-47935200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:47929800-47935400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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