Variant report

Variant	rs10953574
Chromosome Location	chr7:108101762-108101763
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	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	chr7:108094254..108096481-chr7:108100316..108102970,2	K562	blood:
2	chr7:108101662..108103769-chr7:108105980..108107741,2	MCF-7	breast:
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: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10225561	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1034826	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1158036	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1859767	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1859773	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs40848	0.95[EUR][1000 genomes];0.84[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10953574	THAP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108097200-108118000	Weak transcription	Aorta	Aorta
2	chr7:108097800-108103200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:108098200-108140600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:108100000-108102800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:108100400-108102200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:108100400-108103000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:108100400-108106600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr7:108100800-108102200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr7:108100800-108102800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr7:108100800-108103200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:108100800-108108800	Weak transcription	HUVEC	blood vessel
12	chr7:108101000-108102200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:108101000-108102200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:108101000-108103200	Weak transcription	Primary T cells from cord blood	blood
15	chr7:108101000-108119200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:108101200-108102400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:108101400-108102800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:108101400-108116800	Weak transcription	Osteobl	bone
19	chr7:108101600-108101800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:108101600-108102400	Enhancers	Pancreas	Pancrea

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