Variant report

Variant	rs11183554
Chromosome Location	chr12:47069339-47069340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:47069186..47070115-chr12:47414805..47415851,3	MCF-7	breast:
2	chr12:47057391..47059598-chr12:47067788..47069544,2	MCF-7	breast:
3	chr12:47068145..47070667-chr12:47326335..47329369,3	MCF-7	breast:
4	chr12:47063637..47066439-chr12:47067771..47070292,2	K562	blood:
5	chr12:46760106..46768771-chr12:47062317..47074742,23	MCF-7	breast:
6	chr12:46774047..46784224-chr12:47066154..47074786,21	MCF-7	breast:
7	chr12:46885465..46887733-chr12:47068809..47070995,2	MCF-7	breast:
8	chr12:46598997..46599629-chr12:47069182..47070047,2	MCF-7	breast:
9	chr12:46949570..46952238-chr12:47068920..47070785,2	K562	blood:
10	chr12:46750819..46754601-chr12:47068598..47071895,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000257496	Chromatin interaction
ENSG00000257261	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs235623	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1844378	chr12:47028797-47072016	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47046400-47069800	Weak transcription	Pancreas	Pancrea
2	chr12:47054000-47071400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:47059600-47069800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:47059600-47076800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:47059800-47076600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:47063600-47069800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:47063800-47070800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:47064200-47071200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:47064400-47071000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:47064600-47070600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:47064600-47071200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:47064800-47071200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:47065200-47076200	Weak transcription	Psoas Muscle	Psoas
14	chr12:47067400-47070600	Enhancers	HMEC	breast
15	chr12:47067400-47072200	Enhancers	Hela-S3	cervix
16	chr12:47067600-47069600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:47067600-47069800	Enhancers	NHEK	skin
18	chr12:47067600-47072200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:47067600-47072400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:47067800-47069400	Enhancers	A549	lung
21	chr12:47067800-47069600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:47067800-47072200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:47068000-47069800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:47068000-47071800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:47068000-47071800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:47068600-47071000	Enhancers	Osteobl	bone
27	chr12:47068600-47071400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:47068800-47070000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr12:47068800-47070600	Enhancers	NHLF	lung
30	chr12:47068800-47072000	Enhancers	HepG2	liver
31	chr12:47069000-47069400	Enhancers	HSMM	muscle
32	chr12:47069000-47070000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:47069000-47070000	Enhancers	Esophagus	oesophagus
34	chr12:47069000-47070600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:47069000-47071200	Enhancers	NHDF-Ad	bronchial
36	chr12:47069200-47070800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:47069200-47070800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:47069200-47070800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:47069200-47071400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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