Variant report

Variant	rs12536606
Chromosome Location	chr7:107907875-107907876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107905891..107908548-chr7:107908939..107910827,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10487842	0.88[EUR][1000 genomes]
rs10487843	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10953560	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11980184	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11980771	0.94[EUR][1000 genomes]
rs11984362	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12534073	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12534706	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12538125	0.87[EUR][1000 genomes]
rs12705439	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13228054	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13228675	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13231463	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13237289	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13242621	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13245910	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13247108	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1548950	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17155187	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17155196	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17155335	0.84[EUR][1000 genomes]
rs17331230	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2111203	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2191046	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2193252	0.87[EUR][1000 genomes]
rs2193253	0.85[EUR][1000 genomes]
rs2193254	0.94[EUR][1000 genomes]
rs2267876	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2267877	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2267878	0.96[EUR][1000 genomes]
rs2272617	0.87[EUR][1000 genomes]
rs2284284	0.85[EUR][1000 genomes]
rs2299992	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2299996	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2299999	0.94[EUR][1000 genomes]
rs2300000	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2300002	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34723270	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34754517	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55643449	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67133820	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6958333	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6964282	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6977003	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6980041	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71568512	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73199565	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7776972	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7784186	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7789291	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7795834	0.96[EUR][1000 genomes]
rs7796675	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7809003	0.85[AMR][1000 genomes];0.96[EUR][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	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
2	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv888942	chr7:107893695-108055858	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12536606	THAP5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107887400-107925000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:107904000-107908600	Weak transcription	Brain Angular Gyrus	brain
3	chr7:107904000-107910800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:107904800-107909000	Weak transcription	HSMMtube	muscle
5	chr7:107906000-107911000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:107906600-107908000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr7:107906600-107909600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:107907000-107908800	Weak transcription	HSMM	muscle
9	chr7:107907000-107911400	Enhancers	A549	lung
10	chr7:107907200-107908400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:107907200-107923400	Weak transcription	Fetal Brain Male	brain
12	chr7:107907400-107908000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:107907400-107908000	Enhancers	Adipose Nuclei	Adipose
14	chr7:107907400-107908800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:107907400-107911400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:107907400-107919400	Weak transcription	HUVEC	blood vessel
17	chr7:107907400-107923400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:107907800-107908200	Weak transcription	NH-A	brain
19	chr7:107907800-107925000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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