Variant report

Variant	rs750949
Chromosome Location	chr11:18286697-18286698
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	SPI1	chr11:18286332-18286933	HL-60	blood:	n/a	n/a
2	RUNX3	chr11:18286686-18287032	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18284620..18287566-chr11:18415998..18418094,2	K562	blood:
2	chr11:18283937..18286938-chr13:37573373..37575594,3	MCF-7	breast:

Variant related genes	Relation type
RNA5SP334	TF binding region
SAA1	TF binding region
ENSG00000134333	Chromatin interaction
ENSG00000120697	Chromatin interaction
ENSG00000120699	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11024593	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 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	chr11:18278400-18293200	Weak transcription	Aorta	Aorta
2	chr11:18281400-18289400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:18283600-18291000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:18283600-18301600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:18283800-18286800	Weak transcription	Adipose Nuclei	Adipose
6	chr11:18285200-18287800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:18285200-18289200	Weak transcription	Hela-S3	cervix
8	chr11:18285200-18291200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:18285200-18303200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:18285400-18300600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:18285600-18286800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:18285600-18286800	Weak transcription	Liver	Liver
13	chr11:18285600-18289800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:18285600-18308400	Weak transcription	Gastric	stomach
15	chr11:18285800-18287800	Enhancers	GM12878-XiMat	blood
16	chr11:18285800-18298800	Weak transcription	HSMMtube	muscle
17	chr11:18286200-18286800	Weak transcription	HepG2	liver
18	chr11:18286200-18287600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:18286400-18287200	Enhancers	Primary B cells from peripheral blood	blood
20	chr11:18286600-18287800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:18286600-18287800	Enhancers	HMEC	breast
22	chr11:18286600-18287800	Enhancers	Monocytes-CD14+_RO01746	blood

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