Variant report

Variant	rs4683336
Chromosome Location	chr3:42859953-42859954
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	chr3:42859646-42860032	HL-60	blood:	n/a	chr3:42859819-42859832 chr3:42859818-42859831
2	SPI1	chr3:42859665-42859963	GM12891	blood:	n/a	chr3:42859819-42859832 chr3:42859818-42859831

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42843227..42846088-chr3:42858547..42861083,3	K562	blood:
2	chr3:42695556..42698208-chr3:42859174..42860846,2	MCF-7	breast:

Variant related genes	Relation type
ACKR2	TF binding region
ENSG00000230084	Chromatin interaction
ENSG00000181061	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10865923	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11129969	0.83[CHB][hapmap]
rs11709500	0.83[CHB][hapmap]
rs11710120	0.81[ASN][1000 genomes]
rs11713172	0.83[CHB][hapmap]
rs11717346	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11915803	0.85[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17238798	0.80[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2240861	0.83[CHB][hapmap]
rs339664	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs339668	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs339676	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs4682856	0.83[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs4682857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55641040	0.96[ASN][1000 genomes]
rs58045017	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62246629	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62246635	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62246636	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6442057	0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs6764909	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7634876	0.98[ASN][1000 genomes]
rs9880635	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1847016	chr3:42855765-42880490	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42853800-42861000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:42853800-42861200	Weak transcription	Fetal Intestine Large	intestine
3	chr3:42853800-42862200	Weak transcription	Fetal Intestine Small	intestine
4	chr3:42854200-42861200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:42856800-42861000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:42857000-42861000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:42857000-42869800	Weak transcription	Colonic Mucosa	Colon
8	chr3:42857200-42860600	Weak transcription	Fetal Kidney	kidney
9	chr3:42857200-42861000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:42857400-42860800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr3:42857400-42861000	Weak transcription	Liver	Liver
12	chr3:42857400-42861200	Weak transcription	HMEC	breast
13	chr3:42857400-42861200	Weak transcription	NHEK	skin
14	chr3:42857600-42861000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr3:42857600-42861000	Weak transcription	Stomach Mucosa	stomach
16	chr3:42857600-42861400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:42857800-42860800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:42857800-42861000	Weak transcription	Hela-S3	cervix
19	chr3:42858600-42861200	Strong transcription	Placenta	Placenta
20	chr3:42859600-42863200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr3:42859600-42863200	Enhancers	HepG2	liver
22	chr3:42859800-42860000	Enhancers	K562	blood
23	chr3:42859800-42860200	Bivalent Enhancer	Pancreatic Islets	Pancreatic Islet

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