Variant report

Variant	rs4423711
Chromosome Location	chr3:24453876-24453877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:24452520..24454105-chr3:24536020..24537651,2	K562	blood:
2	chr3:24452605..24456244-chr3:24536151..24538006,3	K562	blood:

Variant related genes	Relation type
ENSG00000228791	Chromatin interaction
ENSG00000151090	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11129152	0.86[ASN][1000 genomes]
rs11918018	0.88[ASN][1000 genomes]
rs12495379	0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs13065876	0.89[ASN][1000 genomes]
rs13086388	0.88[ASN][1000 genomes]
rs17014605	0.82[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs28380451	0.89[ASN][1000 genomes]
rs35340172	0.89[ASN][1000 genomes]
rs4300958	0.85[ASN][1000 genomes]
rs4309672	0.88[ASN][1000 genomes]
rs4331621	0.86[EUR][1000 genomes]
rs4491844	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4541352	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4602332	0.88[ASN][1000 genomes]
rs4630886	0.84[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4858608	0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs4858610	0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs59212267	0.80[EUR][1000 genomes]
rs60325252	0.80[EUR][1000 genomes]
rs60904521	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6550865	0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6769978	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6771995	0.85[ASN][1000 genomes]
rs6786474	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73041705	0.81[EUR][1000 genomes]
rs73041706	0.80[EUR][1000 genomes]
rs7611219	0.83[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7630858	0.86[ASN][1000 genomes]
rs7648757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9310740	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs9816509	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[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	nsv834640	chr3:24339779-24493605	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr3:24442000-24469800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:24443600-24457600	Weak transcription	Fetal Lung	lung
3	chr3:24443800-24456400	Weak transcription	Aorta	Aorta
4	chr3:24443800-24456600	Weak transcription	Pancreas	Pancrea
5	chr3:24443800-24457800	Weak transcription	Psoas Muscle	Psoas
6	chr3:24443800-24475800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:24444400-24459000	Weak transcription	Fetal Intestine Large	intestine
8	chr3:24446000-24476800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:24448800-24457800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:24450000-24457800	Weak transcription	Esophagus	oesophagus
11	chr3:24450200-24458000	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:24451400-24460400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr3:24452200-24454400	Enhancers	Liver	Liver
14	chr3:24452800-24455600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:24453200-24456600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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