Variant report

Variant	rs12531952
Chromosome Location	chr7:27703830-27703831
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	TBP	chr7:27702171-27704049	K562	blood:	n/a	n/a
2	MAFF	chr7:27703408-27703838	K562	blood:	n/a	n/a
3	RAD21	chr7:27703200-27703841	HCT-116	colon:	n/a	n/a
4	TEAD4	chr7:27703160-27703934	K562	blood:	n/a	n/a
5	EP300	chr7:27702240-27703881	K562	blood:	n/a	chr7:27702530-27702546 chr7:27702795-27702804
6	MAFK	chr7:27703327-27703857	K562	blood:	n/a	n/a
7	RFX5	chr7:27700064-27704013	SK-N-SH	brain:	n/a	chr7:27702634-27702643
8	CBX3	chr7:27703158-27703877	K562	blood:	n/a	n/a
9	JUN	chr7:27701498-27704050	K562	blood:	n/a	chr7:27702790-27702799 chr7:27702635-27702644
10	CUX1	chr7:27703375-27703902	K562	blood:	n/a	n/a
11	POLR2A	chr7:27701556-27704059	K562	blood:	n/a	n/a
12	E2F6	chr7:27701810-27703932	K562	blood:	n/a	chr7:27702517-27702526 chr7:27702505-27702519 chr7:27702791-27702800

No.	Distal block	Cell Line	Cell type
1	chr7:27702844..27705316-chr7:27782990..27784557,2	K562	blood:
2	chr7:27699948..27706867-chr7:27775418..27784557,21	K562	blood:
3	chr7:27236687..27240147-chr7:27700482..27703881,4	MCF-7	breast:
4	chr7:27700432..27708426-chr7:27777901..27782637,20	K562	blood:
5	chr7:27702921..27706495-chr7:27708435..27711221,3	K562	blood:
6	chr7:27702869..27704371-chr7:27770712..27773615,2	K562	blood:

Variant related genes	Relation type
HIBADH	TF binding region
ENSG00000229893	Chromatin interaction
ENSG00000243766	Chromatin interaction
ENSG00000106031	Chromatin interaction
ENSG00000106052	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10447552	0.87[ASN][1000 genomes]
rs10951175	0.87[ASN][1000 genomes]
rs10951176	0.87[ASN][1000 genomes]
rs1115346	0.87[ASN][1000 genomes]
rs11762342	0.87[ASN][1000 genomes]
rs11763449	0.87[ASN][1000 genomes]
rs11766457	0.93[ASN][1000 genomes]
rs11973492	0.87[ASN][1000 genomes]
rs12155430	0.87[ASN][1000 genomes]
rs12164139	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12535844	0.87[ASN][1000 genomes]
rs12665991	0.87[ASN][1000 genomes]
rs12667610	0.87[ASN][1000 genomes]
rs12670771	0.80[ASN][1000 genomes]
rs12672811	0.87[ASN][1000 genomes]
rs12700832	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13226102	0.80[ASN][1000 genomes]
rs13242248	0.87[ASN][1000 genomes]
rs13244903	0.87[ASN][1000 genomes]
rs13308974	0.80[ASN][1000 genomes]
rs2391452	0.87[ASN][1000 genomes]
rs2391453	0.87[ASN][1000 genomes]
rs42085	0.96[ASN][1000 genomes]
rs4722724	0.80[ASN][1000 genomes]
rs4722728	0.87[ASN][1000 genomes]
rs56123216	0.81[ASN][1000 genomes]
rs56139857	0.87[ASN][1000 genomes]
rs58747588	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6462038	0.87[ASN][1000 genomes]
rs6945993	0.87[ASN][1000 genomes]
rs6948460	0.87[ASN][1000 genomes]
rs6959495	0.87[ASN][1000 genomes]
rs6961429	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963421	0.87[ASN][1000 genomes]
rs6966587	0.87[ASN][1000 genomes]
rs6970104	0.87[ASN][1000 genomes]
rs6974387	0.87[ASN][1000 genomes]
rs6974932	0.87[ASN][1000 genomes]
rs7778320	0.80[ASN][1000 genomes]
rs7790498	0.80[ASN][1000 genomes]
rs7805086	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7806812	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12531952	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27703000-27704000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr7:27703200-27704800	Enhancers	Stomach Mucosa	stomach
3	chr7:27703200-27708200	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:27703400-27704000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr7:27703400-27704000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:27703400-27704000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr7:27703400-27704000	Enhancers	Fetal Intestine Large	intestine
8	chr7:27703400-27704000	Enhancers	Small Intestine	intestine
9	chr7:27703400-27704000	Flanking Active TSS	HepG2	liver
10	chr7:27703400-27704200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:27703400-27704200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:27703400-27704200	Weak transcription	HUVEC	blood vessel
13	chr7:27703400-27704200	Flanking Active TSS	K562	blood
14	chr7:27703400-27705400	Enhancers	Placenta	Placenta
15	chr7:27703400-27706200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:27703600-27704000	Enhancers	Liver	Liver
17	chr7:27703600-27704000	Enhancers	Colonic Mucosa	Colon
18	chr7:27703600-27704200	Enhancers	Duodenum Mucosa	Duodenum
19	chr7:27703600-27704800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:27703600-27708000	Weak transcription	Right Atrium	heart
21	chr7:27703800-27704000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:27703800-27704000	Enhancers	Fetal Heart	heart
23	chr7:27703800-27704000	Enhancers	A549	lung
24	chr7:27703800-27704000	Enhancers	NHDF-Ad	bronchial
25	chr7:27703800-27704200	Enhancers	Monocytes-CD14+_RO01746	blood

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