Variant report

Variant	rs12990700
Chromosome Location	chr2:40264540-40264541
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	POLR2A	chr2:40264299-40264733	HL-60	blood:	n/a	n/a
2	POLR2A	chr2:40264289-40264993	HL-60	blood:	n/a	n/a
3	SPI1	chr2:40264451-40264890	HL-60	blood:	n/a	n/a
4	MYC	chr2:40264301-40264849	NB4	blood:	n/a	n/a
5	MAX	chr2:40264364-40264951	NB4	blood:	n/a	n/a

Variant related genes	Relation type
SLC8A1-AS1	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12468033	0.88[ASN][1000 genomes]
rs12472356	0.80[ASN][1000 genomes]
rs12988990	0.85[ASN][1000 genomes]
rs2024420	0.85[ASN][1000 genomes]
rs2192720	0.87[ASN][1000 genomes]
rs2373782	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916300	chr2:40079899-40339019	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv873899	chr2:40161168-40281964	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1009532	chr2:40165606-40291224	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv535653	chr2:40165606-40291224	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv833892	chr2:40188785-40363480	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv873900	chr2:40202505-40278909	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv873901	chr2:40207338-40264861	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv581501	chr2:40256218-40285145	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	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	chr2:40261800-40265600	Weak transcription	Osteobl	bone
2	chr2:40262000-40265800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:40262200-40265800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:40262200-40265800	Weak transcription	NHDF-Ad	bronchial
5	chr2:40262200-40268600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:40262400-40265600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:40262400-40269000	Weak transcription	HMEC	breast
8	chr2:40262600-40266000	Weak transcription	Dnd41	blood
9	chr2:40262800-40270200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:40262800-40270200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:40263200-40265600	Enhancers	Primary hematopoietic stem cells	blood
12	chr2:40263400-40264600	Enhancers	HSMMtube	muscle
13	chr2:40263400-40265000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:40264200-40264800	Enhancers	HSMM	muscle
15	chr2:40264200-40265000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr2:40264200-40266000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:40264400-40264600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:40264400-40264600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:40264400-40264600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:40264400-40264800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr2:40264400-40264800	Enhancers	Fetal Thymus	thymus
22	chr2:40264400-40267200	Enhancers	Muscle Satellite Cultured Cells	--

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