Variant report

Variant	rs3783565
Chromosome Location	chr2:113546291-113546292
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	RCOR1	chr2:113546231-113546623	K562	blood:	n/a	n/a
2	EP300	chr2:113546225-113546550	K562	blood:	n/a	n/a
3	MAX	chr2:113546228-113546562	K562	blood:	n/a	chr2:113546385-113546396 chr2:113546384-113546394
4	MAX	chr2:113546239-113546523	K562	blood:	n/a	chr2:113546385-113546396 chr2:113546384-113546394
5	GATA1	chr2:113546037-113546785	K562	blood:	n/a	chr2:113546450-113546460
6	MYC	chr2:113546240-113546571	K562	blood:	n/a	chr2:113546385-113546396 chr2:113546384-113546394
7	MAX	chr2:113546287-113546424	NB4	blood:	n/a	chr2:113546385-113546396 chr2:113546384-113546394
8	MYC	chr2:113546217-113546578	K562	blood:	n/a	chr2:113546385-113546396 chr2:113546384-113546394
9	TEAD4	chr2:113546156-113546586	K562	blood:	n/a	n/a
10	TBL1XR1	chr2:113546291-113546429	K562	blood:	n/a	n/a
11	ARID3A	chr2:113546214-113546478	K562	blood:	n/a	n/a
12	MAX	chr2:113546277-113546490	K562	blood:	n/a	chr2:113546385-113546396 chr2:113546384-113546394
13	ZNF384	chr2:113546203-113546396	K562	blood:	n/a	n/a
14	JUND	chr2:113546245-113546563	K562	blood:	n/a	chr2:113546328-113546340

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL1A-1	chr2:113546224-113546670	NONHSAT073727

Variant related genes	Relation type
IL1A	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10496443	1.00[AMR][1000 genomes]
rs1143631	1.00[AMR][1000 genomes]
rs17042486	1.00[AMR][1000 genomes]
rs57986359	1.00[AMR][1000 genomes]
rs6707608	1.00[AMR][1000 genomes]
rs6721020	1.00[AMR][1000 genomes]
rs6722276	1.00[AMR][1000 genomes]
rs6726111	1.00[AMR][1000 genomes]
rs6748751	1.00[AMR][1000 genomes]
rs72942424	1.00[AMR][1000 genomes]
rs72942425	1.00[AMR][1000 genomes]
rs72942429	1.00[AMR][1000 genomes]
rs7556811	1.00[AMR][1000 genomes]
rs7556903	1.00[AMR][1000 genomes]
rs7590199	1.00[AMR][1000 genomes]
rs7590499	1.00[AMR][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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113534000-113551800	Weak transcription	Fetal Heart	heart
2	chr2:113542400-113546600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:113542400-113559200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:113542600-113548600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr2:113543000-113547800	Weak transcription	Hela-S3	cervix
6	chr2:113543000-113562200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:113543200-113548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:113543600-113548800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:113543600-113548800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:113543800-113548600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:113544200-113547000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:113544600-113546600	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:113544600-113547000	Enhancers	K562	blood
14	chr2:113544600-113547200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:113545000-113546600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr2:113545200-113546400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:113545400-113550400	Weak transcription	HMEC	breast
18	chr2:113545600-113546600	Enhancers	HUVEC	blood vessel
19	chr2:113545600-113548000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:113545600-113548000	Weak transcription	NHEK	skin
21	chr2:113545600-113548600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:113545600-113550600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:113545600-113551000	Weak transcription	Adipose Nuclei	Adipose
24	chr2:113545800-113552400	Weak transcription	Primary B cells from cord blood	blood

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