Variant report

Variant	rs1820430
Chromosome Location	chr11:59953313-59953314
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr11:59952635-59953405	K562	blood:	n/a	n/a
2	TRIM28	chr11:59952816-59953359	K562	blood:	n/a	n/a
3	GATA2	chr11:59952811-59953328	K562	blood:	n/a	n/a
4	NR2F2	chr11:59952774-59953318	K562	blood:	n/a	n/a
5	TEAD4	chr11:59952808-59953326	K562	blood:	n/a	n/a
6	CBX3	chr11:59952882-59953422	K562	blood:	n/a	n/a
7	HEY1	chr11:59953141-59953382	HepG2	liver:	n/a	n/a
8	STAT5A	chr11:59952853-59953339	K562	blood:	n/a	n/a
9	TAL1	chr11:59952849-59953315	K562	blood:	n/a	n/a

Variant related genes	Relation type
MS4A6A	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10897009	0.82[EUR][1000 genomes]
rs10897011	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11230153	0.81[EUR][1000 genomes]
rs11230155	0.82[EUR][1000 genomes]
rs11230180	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11230183	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11230184	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125357	0.80[EUR][1000 genomes]
rs11600716	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11605427	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12453	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17529983	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17602572	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1834549	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1834550	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1834551	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1834557	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081545	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2123314	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2165525	0.82[EUR][1000 genomes]
rs2278867	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28628869	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28672915	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4939311	0.80[EUR][1000 genomes]
rs4939312	0.82[EUR][1000 genomes]
rs4939314	0.82[EUR][1000 genomes]
rs55847558	0.81[EUR][1000 genomes]
rs56189574	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56201148	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs583791	0.83[EUR][1000 genomes]
rs610932	0.81[EUR][1000 genomes]
rs624663	0.83[EUR][1000 genomes]
rs631853	0.84[EUR][1000 genomes]
rs632185	0.85[EUR][1000 genomes]
rs634475	0.84[EUR][1000 genomes]
rs636147	0.87[EUR][1000 genomes]
rs662196	0.84[EUR][1000 genomes]
rs7116190	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72918674	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7926344	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926354	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926729	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926954	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7933202	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7933805	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935829	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7939882	0.86[EUR][1000 genomes]
rs7946992	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs920573	0.82[EUR][1000 genomes]
rs983392	0.81[AMR][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	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
2	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
3	nsv832174	chr11:59909267-60073908	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	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	chr11:59950000-59954800	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:59950400-59954600	Enhancers	Fetal Intestine Large	intestine
3	chr11:59950600-59954600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr11:59950800-59961200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:59951000-59954200	Enhancers	GM12878-XiMat	blood
6	chr11:59951000-59954600	Enhancers	Primary B cells from cord blood	blood
7	chr11:59951400-59954200	Enhancers	K562	blood
8	chr11:59951600-59957400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr11:59952000-59953400	Weak transcription	Adipose Nuclei	Adipose
10	chr11:59952000-59955600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:59953200-59953400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:59953200-59953600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:59953200-59953800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:59953200-59954400	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr11:59953200-59956000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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