Variant report

Variant	rs7104844
Chromosome Location	chr11:33560486-33560487
allele	C/T
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	SPI1	chr11:33560321-33560626	GM12891	blood:	n/a	n/a
2	SPI1	chr11:33560384-33560572	GM12878	blood:	n/a	n/a
3	SPI1	chr11:33560352-33560641	HL-60	blood:	n/a	n/a
4	SPI1	chr11:33560335-33560658	GM12891	blood:	n/a	n/a
5	SPI1	chr11:33560079-33560696	GM12878	blood:	n/a	n/a
6	SPI1	chr11:33560328-33560615	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:33534524..33537058-chr11:33559192..33562148,2	K562	blood:

Variant related genes	Relation type
KIAA1549L	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10219251	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10219258	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10437588	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10836068	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10836069	0.87[EUR][1000 genomes]
rs10836070	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10836071	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10836072	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10836078	0.84[CHB][hapmap]
rs11032287	0.87[EUR][1000 genomes]
rs11032291	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11032295	0.83[EUR][1000 genomes]
rs11032300	0.83[CHB][hapmap]
rs11032306	0.83[CHB][hapmap]
rs11032310	0.83[CHB][hapmap]
rs12222353	0.85[EUR][1000 genomes]
rs12270137	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12273774	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12277742	0.83[CHB][hapmap]
rs12286387	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12574530	0.87[CEU][hapmap]
rs12806278	0.83[CHB][hapmap]
rs1321013	0.84[CHB][hapmap]
rs1323630	0.81[CEU][hapmap]
rs1473729	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16924469	0.83[CHB][hapmap]
rs2076625	0.83[CHB][hapmap]
rs2076626	0.83[CHB][hapmap]
rs2224528	0.84[EUR][1000 genomes]
rs2273117	0.83[CHB][hapmap]
rs2761220	0.87[CEU][hapmap]
rs34372736	0.81[EUR][1000 genomes]
rs35916089	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4755201	0.83[CHB][hapmap]
rs4755619	0.82[EUR][1000 genomes]
rs4755689	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4755693	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4755718	0.83[CHB][hapmap]
rs4756696	0.87[CEU][hapmap]
rs61888295	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6484658	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs7102647	0.84[CHB][hapmap]
rs7110105	0.81[JPT][hapmap]
rs7119677	0.82[CHB][hapmap]
rs7122768	0.83[CHB][hapmap]
rs7128963	0.81[CHB][hapmap]
rs735327	0.83[CHB][hapmap]
rs761436	0.95[EUR][1000 genomes]
rs7939586	0.84[CHB][hapmap]
rs7945168	0.83[CEU][hapmap];0.89[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9988888	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762904	chr11:32969258-33586535	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1042860	chr11:33008191-33562490	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv540990	chr11:33008191-33562490	Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv533840	chr11:33008192-33595324	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
6	nsv1050944	chr11:33043155-33656273	Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv540993	chr11:33043155-33656273	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv529212	chr11:33053073-33641691	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv869418	chr11:33053073-33662479	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv521130	chr11:33068389-33602913	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	nsv1053959	chr11:33075082-33565833	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
12	nsv540994	chr11:33075082-33565833	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	nsv1041680	chr11:33249367-33637249	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
14	nsv540997	chr11:33249367-33637249	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
15	nsv832112	chr11:33469782-33683052	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv825819	chr11:33560219-33560847	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33555000-33563400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:33555200-33563400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:33555200-33564000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:33555200-33617600	Weak transcription	Fetal Brain Male	brain
5	chr11:33555600-33561000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:33555600-33561000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:33555600-33561000	Weak transcription	NHDF-Ad	bronchial
8	chr11:33555600-33561200	Weak transcription	Osteobl	bone
9	chr11:33555600-33563400	Weak transcription	Brain Germinal Matrix	brain
10	chr11:33555600-33566000	Weak transcription	NH-A	brain
11	chr11:33555600-33566400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:33555600-33567400	Weak transcription	HUVEC	blood vessel
13	chr11:33555600-33568600	Weak transcription	A549	lung
14	chr11:33556800-33565400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:33556800-33566000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:33558600-33564800	Weak transcription	HSMMtube	muscle
17	chr11:33558600-33567600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:33559800-33564800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:33560000-33561000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:33560400-33562800	Weak transcription	Fetal Brain Female	brain

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