Variant report

Variant	rs74074916
Chromosome Location	chr13:49108713-49108714
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	GATA3	chr13:49108607-49108801	SH-SY5Y	brain:	n/a	n/a
2	EP300	chr13:49108364-49108760	K562	blood:	n/a	chr13:49108616-49108626
3	GATA1	chr13:49108144-49109109	K562	blood:	n/a	chr13:49108380-49108401 chr13:49108383-49108399 chr13:49108383-49108399
4	GATA1	chr13:49108093-49108878	PBDE	blood:	n/a	chr13:49108380-49108401 chr13:49108383-49108399 chr13:49108383-49108399

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49107619..49110446-chr13:49111219..49113821,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RCBTB2-4	chr13:49108643-49109255	l_837_chr13:49108642-49112591_adrenal

Variant related genes	Relation type
RCBTB2	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12583617	1.00[EUR][1000 genomes]
rs12583644	1.00[EUR][1000 genomes]
rs12583787	1.00[ASN][1000 genomes]
rs12585384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585742	1.00[EUR][1000 genomes]
rs12857866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17071937	1.00[ASN][1000 genomes]
rs2148515	1.00[ASN][1000 genomes]
rs4151472	1.00[EUR][1000 genomes]
rs4151479	1.00[EUR][1000 genomes]
rs4151524	1.00[EUR][1000 genomes]
rs4151598	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4151602	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4151613	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449268	1.00[ASN][1000 genomes]
rs55686933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57394470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139763	1.00[ASN][1000 genomes]
rs7319276	1.00[ASN][1000 genomes]
rs7326934	1.00[ASN][1000 genomes]
rs73479216	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73479220	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73495018	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73495037	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074944	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074951	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74077638	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316384	1.00[ASN][1000 genomes]
rs9316386	1.00[ASN][1000 genomes]
rs9316387	1.00[ASN][1000 genomes]
rs9316396	1.00[ASN][1000 genomes]
rs9316398	1.00[ASN][1000 genomes]
rs9331984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9331994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332055	1.00[ASN][1000 genomes]
rs9332070	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591176	1.00[ASN][1000 genomes]
rs9595914	1.00[ASN][1000 genomes]
rs9595924	1.00[ASN][1000 genomes]
rs9595926	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49107200-49110800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr13:49107600-49108800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:49107800-49108800	Enhancers	Fetal Thymus	thymus
4	chr13:49107800-49110400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:49107800-49110400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:49107800-49110800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr13:49107800-49116200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:49107800-49116200	Weak transcription	Left Ventricle	heart
9	chr13:49107800-49116200	Weak transcription	Right Atrium	heart
10	chr13:49107800-49116200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr13:49107800-49116400	Weak transcription	Lung	lung
12	chr13:49107800-49116800	Weak transcription	Pancreas	Pancrea
13	chr13:49108000-49108800	Flanking Active TSS	K562	blood
14	chr13:49108000-49116600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr13:49108200-49110000	Enhancers	Primary B cells from cord blood	blood
16	chr13:49108200-49110200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:49108200-49111000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:49108400-49109000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:49108400-49110600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr13:49108400-49116400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr13:49108600-49111400	Enhancers	Primary monocytes fromperipheralblood	blood

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