Variant report

Variant	rs4883249
Chromosome Location	chr12:9519998-9519999
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	MAZ	chr12:9519858-9520311	K562	blood:	n/a	chr12:9520112-9520122
2	MYC	chr12:9519826-9520182	K562	blood:	n/a	chr12:9520112-9520122
3	JUN	chr12:9519612-9521121	K562	blood:	n/a	n/a
4	EP300	chr12:9519802-9520839	K562	blood:	n/a	chr12:9519873-9519882
5	EP300	chr12:9519900-9520065	K562	blood:	n/a	n/a
6	SPI1	chr12:9519620-9520339	HL-60	blood:	n/a	chr12:9519910-9519917
7	RCOR1	chr12:9519823-9520221	K562	blood:	n/a	n/a
8	ATF1	chr12:9519822-9520248	K562	blood:	n/a	n/a
9	POLR2A	chr12:9518902-9520834	HL-60	blood:	n/a	n/a
10	ZNF143	chr12:9519902-9520102	K562	blood:	n/a	n/a
11	MAX	chr12:9519903-9520224	K562	blood:	n/a	chr12:9520112-9520122
12	POLR2A	chr12:9519492-9520880	HL-60	blood:	n/a	n/a
13	JUND	chr12:9519778-9520748	K562	blood:	n/a	n/a
14	BHLHE40	chr12:9519892-9520265	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLEC2D-4	chr12:9519787-9520002	XLOC_009652

Variant related genes	Relation type
ENSG00000260423	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10743678	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10743679	0.83[YRI][hapmap]
rs10843578	1.00[AMR][1000 genomes]
rs2194828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2377801	1.00[AMR][1000 genomes]
rs4882992	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4882993	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4882994	1.00[AMR][1000 genomes]
rs4883245	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4883251	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7315051	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs759896	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7956178	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7971165	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs918983	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv523958	chr12:9303440-9549072	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv557355	chr12:9309995-9529015	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1035953	chr12:9314481-9544655	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
6	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
8	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
9	nsv916832	chr12:9397450-9693952	ZNF genes & repeats Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv976736	chr12:9431362-9524845	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv898740	chr12:9436446-9546962	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1050161	chr12:9436635-9685768	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription 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	22 gene(s)	inside rSNPs	diseases
13	nsv898741	chr12:9458525-9546962	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1035958	chr12:9472365-9579109	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv898743	chr12:9473157-9522350	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv975403	chr12:9481646-9541991	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv898744	chr12:9518222-9668380	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9515800-9520000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr12:9515800-9520000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:9516000-9521200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:9516400-9520000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:9516600-9520000	Enhancers	Fetal Stomach	stomach
6	chr12:9516800-9520000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr12:9516800-9520400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:9516800-9520600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:9516800-9521600	Enhancers	Fetal Lung	lung
10	chr12:9517400-9520000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:9517600-9520600	Weak transcription	Fetal Brain Male	brain
12	chr12:9517800-9520000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:9517800-9520200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:9518400-9520800	Weak transcription	Small Intestine	intestine
15	chr12:9518600-9520200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:9518600-9521600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:9518800-9527400	Weak transcription	HepG2	liver
18	chr12:9519400-9520400	Weak transcription	GM12878-XiMat	blood
19	chr12:9519800-9520000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr12:9519800-9520000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:9519800-9520200	Enhancers	Right Atrium	heart
22	chr12:9519800-9520200	Enhancers	Spleen	Spleen
23	chr12:9519800-9520800	Enhancers	K562	blood

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