Variant report

Variant	rs4404233
Chromosome Location	chr2:182938377-182938378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182753389..182769521-chr2:182932013..182949608,79	MCF-7	breast:
2	chr2:182604943..182606476-chr2:182937858..182940563,2	MCF-7	breast:
3	chr2:182880362..182889935-chr2:182937119..182944893,30	MCF-7	breast:
4	chr2:182880158..182888359-chr2:182937576..182947086,29	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138434	Chromatin interaction
ENSG00000260742	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10930985	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10930986	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10930987	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1196147	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1196148	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1196149	0.96[CEU][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs1196151	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs1196154	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1196172	0.88[CEU][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs1196174	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13395058	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1921147	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1921148	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1963270	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6710397	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6747009	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7561331	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.87[LWK][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7579701	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7603587	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs987787	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	nsv875477	chr2:182938377-183086478	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182929400-182942600	Weak transcription	Left Ventricle	heart
2	chr2:182929600-182942200	Weak transcription	Fetal Heart	heart
3	chr2:182933200-182942400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:182934000-182940200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:182934000-182944800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:182934200-182942200	Weak transcription	HUVEC	blood vessel
7	chr2:182934200-182943800	Weak transcription	Stomach Mucosa	stomach
8	chr2:182934800-182941400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:182935200-182940400	Weak transcription	Hela-S3	cervix
10	chr2:182937600-182938600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:182937600-182938800	Enhancers	HepG2	liver
12	chr2:182938000-182938400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:182938000-182938600	Enhancers	Liver	Liver
14	chr2:182938000-182942600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:182938200-182940000	Weak transcription	Osteobl	bone

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