Variant report

Variant	rs519743
Chromosome Location	chr11:59888422-59888423
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: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1286182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1294440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1303617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1303618	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1303619	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1303620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1303622	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1315507	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1441585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2243987	0.96[EUR][1000 genomes]
rs2433240	0.92[EUR][1000 genomes]
rs2847662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs474888	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs475494	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs475812	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs476722	0.81[YRI][hapmap]
rs477352	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489297	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500886	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs500888	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs512548	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs512555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs523806	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524755	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524995	0.80[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs528421	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534273	0.80[YRI][hapmap]
rs535413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541468	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542665	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546840	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs549633	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs562442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs562637	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs569108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs571582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572084	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs573305	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs574060	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs574700	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.88[TSI][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs574704	0.81[YRI][hapmap]
rs575103	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs575930	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576616	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs578269	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581133	0.81[YRI][hapmap]
rs585540	0.90[JPT][hapmap]
rs587634	0.90[JPT][hapmap];0.96[EUR][1000 genomes]
rs588448	0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.81[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	0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs600194	0.96[EUR][1000 genomes]
rs605820	0.96[EUR][1000 genomes]
rs60849043	1.00[ASN][1000 genomes]
rs620368	0.90[JPT][hapmap];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]
rs641829	0.90[JPT][hapmap]
rs642426	0.96[EUR][1000 genomes]
rs646924	0.90[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs653285	0.96[EUR][1000 genomes]
rs654443	0.85[EUR][1000 genomes]
rs661376	0.90[JPT][hapmap]
rs662674	0.90[JPT][hapmap]
rs668095	0.90[JPT][hapmap]
rs668134	0.90[JPT][hapmap]
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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs519743	MS4A6A	cis	multi-tissue	Pritchard

Chromatin state (count:25 , 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	chr11:59882400-59892200	Weak transcription	Fetal Intestine Small	intestine
3	chr11:59883800-59888800	Weak transcription	Ovary	ovary
4	chr11:59884800-59892600	Weak transcription	HMEC	breast
5	chr11:59885000-59888600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:59885000-59889200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr11:59885600-59888600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:59885800-59889200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr11:59886000-59889000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr11:59888000-59889200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:59888200-59888600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:59888200-59889000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr11:59888200-59889000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr11:59888200-59889000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr11:59888200-59889200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:59888200-59889200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:59888200-59889200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr11:59888200-59889200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:59888200-59889400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr11:59888400-59888800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr11:59888400-59889200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr11:59888400-59889200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:59888400-59889200	Enhancers	Stomach Mucosa	stomach
24	chr11:59888400-59889200	Flanking Active TSS	K562	blood
25	chr11:59888400-59892000	Weak transcription	Primary B cells from peripheral blood	blood

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