Variant report

Variant	rs11183828
Chromosome Location	chr12:47676999-47677000
allele	C/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	JUND	chr12:47676735-47677004	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47675905..47678814-chr12:47683290..47684985,2	K562	blood:
2	chr12:47674879..47677351-chr12:47677477..47680318,3	K562	blood:

Variant related genes	Relation type
ENSG00000257925	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11183762	1.00[ASN][1000 genomes]
rs11520333	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61929784	1.00[ASN][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	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv527663	chr12:47676950-47679348	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47672000-47677800	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr12:47672800-47680200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:47674000-47677000	Weak transcription	Hela-S3	cervix
4	chr12:47674200-47677800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr12:47674400-47677000	Enhancers	HSMM	muscle
6	chr12:47674400-47677000	Enhancers	K562	blood
7	chr12:47674400-47677000	Enhancers	NH-A	brain
8	chr12:47674800-47677000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:47674800-47677000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:47674800-47677000	Enhancers	Osteobl	bone
11	chr12:47675200-47677600	Enhancers	Primary T cells from cord blood	blood
12	chr12:47675400-47677000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:47676000-47677000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:47676000-47678800	Weak transcription	NHEK	skin
15	chr12:47676200-47677000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr12:47676200-47697200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:47676600-47677000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr12:47676600-47678600	Weak transcription	A549	lung
19	chr12:47676800-47677000	Bivalent Enhancer	Fetal Lung	lung
20	chr12:47676800-47680400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:47676800-47680400	Weak transcription	HSMMtube	muscle
22	chr12:47676800-47687600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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