Variant report

Variant	rs474888
Chromosome Location	chr11:59886567-59886568
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	chr11:59877470..59879979-chr11:59886517..59889179,2	K562	blood:
2	chr11:59886056..59888504-chr11:59892263..59894071,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1286182	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1294440	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1303617	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1303618	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1303619	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1303620	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1303622	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1315507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1441585	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2243987	0.96[EUR][1000 genomes]
rs2433240	0.92[EUR][1000 genomes]
rs2847662	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs475494	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs475812	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs477352	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs485682	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs489297	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs500886	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs500888	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs512548	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs512555	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs519743	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs523806	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs524755	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs524995	0.96[EUR][1000 genomes]
rs528421	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs535413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs541468	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs542665	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs546840	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs548515	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs549633	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs562442	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs562637	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs569108	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs571582	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs572084	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs573305	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs574060	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs574700	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs575103	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs575930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs576295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs576483	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs576616	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs578269	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs587634	0.96[EUR][1000 genomes]
rs588448	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs590532	0.96[EUR][1000 genomes]
rs592496	0.96[EUR][1000 genomes]
rs596788	0.96[EUR][1000 genomes]
rs597982	0.96[EUR][1000 genomes]
rs598862	0.96[EUR][1000 genomes]
rs600194	0.96[EUR][1000 genomes]
rs605820	0.96[EUR][1000 genomes]
rs60849043	0.98[ASN][1000 genomes]
rs620368	0.96[EUR][1000 genomes]
rs624233	0.96[EUR][1000 genomes]
rs625025	0.96[EUR][1000 genomes]
rs638872	0.96[EUR][1000 genomes]
rs641051	0.88[EUR][1000 genomes]
rs642426	0.96[EUR][1000 genomes]
rs646924	0.96[EUR][1000 genomes]
rs653285	0.96[EUR][1000 genomes]
rs654443	0.85[EUR][1000 genomes]
rs670925	0.96[EUR][1000 genomes]
rs675316	0.96[EUR][1000 genomes]
rs682025	0.96[EUR][1000 genomes]
rs682739	0.96[EUR][1000 genomes]
rs684977	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832173	chr11:59788884-59940560	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv468579	chr11:59814287-59975400	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv555150	chr11:59814287-59975400	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59879400-59897600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:59879800-59888200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:59881800-59888200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:59882400-59888200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:59882400-59892200	Weak transcription	Fetal Intestine Small	intestine
6	chr11:59883800-59888800	Weak transcription	Ovary	ovary
7	chr11:59884600-59888200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:59884600-59888400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:59884800-59892600	Weak transcription	HMEC	breast
10	chr11:59885000-59888600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:59885000-59889200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr11:59885400-59888200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:59885400-59888200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:59885600-59888600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:59885800-59889200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:59886000-59889000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr11:59886200-59888000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:59886400-59888000	Weak transcription	K562	blood

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