Variant report

Variant	rs2073475
Chromosome Location	chr15:74661894-74661895
allele	A/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	CEBPB	chr15:74661781-74662141	K562	blood:	n/a	chr15:74661955-74661966
2	POLR2A	chr15:74661585-74662023	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr15:74661821-74662073	HepG2	liver:	n/a	chr15:74661955-74661966
4	JUND	chr15:74661381-74662140	K562	blood:	n/a	chr15:74662100-74662111
5	ATF1	chr15:74661290-74662010	K562	blood:	n/a	n/a
6	BHLHE40	chr15:74661519-74661951	K562	blood:	n/a	n/a
7	MAZ	chr15:74661788-74662009	K562	blood:	n/a	n/a
8	CEBPB	chr15:74661804-74662042	IMR90	lung:	n/a	chr15:74661955-74661966
9	UBTF	chr15:74661475-74661930	K562	blood:	n/a	n/a
10	UBTF	chr15:74661843-74662043	K562	blood:	n/a	n/a
11	HCFC1	chr15:74661654-74662014	K562	blood:	n/a	n/a
12	RCOR1	chr15:74661430-74662068	K562	blood:	n/a	n/a
13	ZMIZ1	chr15:74661649-74661959	K562	blood:	n/a	n/a
14	JUN	chr15:74661180-74662169	K562	blood:	n/a	chr15:74662100-74662111
15	EP300	chr15:74661399-74661949	K562	blood:	n/a	n/a
16	CEBPB	chr15:74661782-74662114	K562	blood:	n/a	chr15:74661955-74661966

No.	Distal block	Cell Line	Cell type
1	chr15:74660610..74662672-chr15:74905973..74908755,2	K562	blood:
2	chr15:74660902..74662781-chr15:74907796..74910319,2	K562	blood:
3	chr15:74661188..74664135-chr15:74906547..74909297,3	MCF-7	breast:
4	chr15:74661132..74663482-chr15:74724672..74726267,2	K562	blood:

Variant related genes	Relation type
CYP11A1	TF binding region
ENSG00000138623	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000260919	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12438594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16968477	0.94[CEU][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16968478	0.94[ASW][hapmap];0.81[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28681535	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3825944	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3935523	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4077583	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4077584	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4077585	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4555110	0.94[CEU][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4598865	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60636222	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7167038	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7180275	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7181947	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428641	chr15:74555113-74724630	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482615	chr15:74593625-74757962	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
3	nsv904351	chr15:74638965-74697084	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv904352	chr15:74638965-74715205	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2073475	LMAN1L	cis	parietal	SCAN
rs2073475	NRG4	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74658600-74665800	Weak transcription	Pancreas	Pancrea
2	chr15:74658600-74666200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:74658800-74664000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:74658800-74665800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:74658800-74666000	Weak transcription	Esophagus	oesophagus
6	chr15:74658800-74666200	Weak transcription	Right Atrium	heart
7	chr15:74659200-74662200	Enhancers	Ovary	ovary
8	chr15:74659400-74666200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:74659800-74665400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:74659800-74666000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:74660000-74665600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:74660200-74665600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:74660200-74665800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:74660400-74663000	Weak transcription	Hela-S3	cervix
15	chr15:74660400-74665400	Weak transcription	Spleen	Spleen
16	chr15:74660400-74665800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:74661400-74662000	Enhancers	Placenta	Placenta
18	chr15:74661400-74662200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:74661400-74662200	Enhancers	Osteobl	bone
20	chr15:74661600-74662200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:74661600-74662200	Enhancers	Adipose Nuclei	Adipose
22	chr15:74661600-74662400	Enhancers	K562	blood
23	chr15:74661800-74662000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:74661800-74662000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr15:74661800-74662000	Enhancers	HepG2	liver
26	chr15:74661800-74665800	Weak transcription	Fetal Heart	heart

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