Variant report

Variant	rs588470
Chromosome Location	chr11:16380754-16380755
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16377809..16381179-chr11:16381397..16386476,5	K562	blood:
2	chr11:16378328..16381212-chr11:16385744..16387907,4	K562	blood:
3	chr11:16378664..16381135-chr11:16398247..16400656,3	K562	blood:
4	chr11:16368761..16370677-chr11:16378188..16383236,4	K562	blood:
5	chr11:16379429..16381172-chr11:16398247..16400946,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1013304	0.83[JPT][hapmap]
rs10219384	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10500828	0.82[JPT][hapmap]
rs10500829	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10741696	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10766303	0.82[JPT][hapmap]
rs10766304	0.82[JPT][hapmap]
rs10832565	0.82[JPT][hapmap]
rs10832566	0.82[JPT][hapmap]
rs10832567	0.82[JPT][hapmap]
rs10832577	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10832591	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10832592	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10832593	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10832594	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11023882	0.86[JPT][hapmap]
rs11023894	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11023898	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11023904	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11023913	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11023917	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12271339	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12274377	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12281119	0.87[JPT][hapmap]
rs12420519	0.82[JPT][hapmap]
rs1401454	0.91[JPT][hapmap]
rs1519126	0.95[JPT][hapmap]
rs1607480	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1837095	0.87[JPT][hapmap]
rs190929	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1949481	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2351964	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2917899	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs297342	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs297344	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs297359	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs297365	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs297366	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4757390	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4757392	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs722746	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7932210	0.88[ASN][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	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr11:16377600-16381600	Enhancers	Fetal Heart	heart
2	chr11:16377600-16382200	Enhancers	Fetal Intestine Small	intestine
3	chr11:16378000-16381000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:16378400-16381600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr11:16378600-16381200	Enhancers	HepG2	liver
6	chr11:16378800-16381200	Enhancers	Fetal Intestine Large	intestine
7	chr11:16379000-16387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:16379200-16381800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr11:16379200-16387400	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:16379400-16380800	Enhancers	Liver	Liver
11	chr11:16379400-16381400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:16379800-16386600	Weak transcription	Fetal Brain Female	brain
13	chr11:16380400-16381600	Flanking Active TSS	K562	blood
14	chr11:16380400-16385400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:16380400-16387200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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