Variant report

Variant	rs34333829
Chromosome Location	chr7:108101543-108101544
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	EP300	chr7:108099888-108103052	SK-N-SH	brain:	n/a	chr7:108102354-108102363 chr7:108100633-108100647 chr7:108100695-108100709 chr7:108099988-108100002 chr7:108100689-108100703 chr7:108100635-108100649 chr7:108100701-108100715
2	RAD21	chr7:108099865-108103108	SK-N-SH	brain:	n/a	chr7:108100590-108100609

No.	Distal block	Cell Line	Cell type
1	chr7:108090194..108091696-chr7:108099610..108101665,2	K562	blood:
2	chr7:108094254..108096481-chr7:108100316..108102970,2	K562	blood:
3	chr7:108092620..108097023-chr7:108100316..108104112,6	K562	blood:
4	chr7:108095530..108098596-chr7:108100575..108103691,3	MCF-7	breast:

Variant related genes	Relation type
NRCAM	TF binding region
ENSG00000091129	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10487859	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11973105	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11974559	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11981670	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12705470	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13227836	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13228190	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13229488	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13238841	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13245101	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13245242	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13307045	0.94[EUR][1000 genomes]
rs13312593	0.94[EUR][1000 genomes]
rs17155828	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17338441	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17338462	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17423043	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17423119	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17424206	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs194587	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2214913	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2214914	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2214915	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2300048	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2300052	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3202837	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs33987381	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34218460	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34583262	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34814097	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34887057	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35436957	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35617326	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35880371	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40843	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40845	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40850	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40854	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40872	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40875	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40878	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40880	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40882	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs40885	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40886	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40895	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40899	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40900	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40901	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40902	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40908	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40910	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41385644	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4992578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56145857	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59458537	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60398019	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60426977	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6466233	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6466238	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66461825	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67027479	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67694466	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6947492	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6949637	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6955152	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6959023	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6967368	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6976309	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6976649	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6976659	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6976752	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6976776	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6976804	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6978552	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71213282	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71568528	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7784170	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7786947	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7790875	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7806869	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7807737	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7807941	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7811808	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9649307	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9649308	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9785056	0.81[AMR][1000 genomes];0.99[EUR][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	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34333829	THAP5	cis	Esophagus Muscularis	GTEx
rs34333829	THAP5	Cis_1M	lymphoblastoid	RTeQTL
rs34333829	THAP5	cis	Heart Left Ventricle	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108097200-108118000	Weak transcription	Aorta	Aorta
2	chr7:108097800-108101600	Weak transcription	Pancreas	Pancrea
3	chr7:108097800-108103200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:108098200-108140600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:108100000-108102800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:108100400-108102200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:108100400-108103000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:108100400-108106600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr7:108100800-108102200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:108100800-108102800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr7:108100800-108103200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr7:108100800-108108800	Weak transcription	HUVEC	blood vessel
13	chr7:108101000-108102200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:108101000-108102200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:108101000-108103200	Weak transcription	Primary T cells from cord blood	blood
16	chr7:108101000-108119200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:108101200-108102400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:108101400-108102800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr7:108101400-108116800	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links