Variant report

Variant	rs2487514
Chromosome Location	chr10:93633062-93633063
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:93630115..93633090-chr10:93633153..93635901,2	K562	blood:
2	chr10:93627211..93629646-chr10:93632804..93634788,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10736064	0.84[EUR][1000 genomes]
rs10748568	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10748569	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10786011	0.82[EUR][1000 genomes]
rs10786013	0.83[EUR][1000 genomes]
rs10786015	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10786018	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881959	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10881968	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11186695	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11186726	0.85[AMR][1000 genomes]
rs11186731	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11814405	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12248932	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1340420	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1572933	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1572934	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1770467	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1770470	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1770472	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1770475	0.84[EUR][1000 genomes]
rs1772180	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1772185	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1935030	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1935031	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2066276	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2259280	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2487513	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2994394	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3930831	0.81[EUR][1000 genomes]
rs4403720	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6583787	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66627345	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7077236	0.81[EUR][1000 genomes]
rs7085519	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7897784	0.83[EUR][1000 genomes]
rs7911346	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7918126	0.81[EUR][1000 genomes]
rs946896	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv7491	chr10:93626192-93671694	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv511445	chr10:93627158-93635541	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3531002	chr10:93631372-93636470	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3442817	chr10:93631922-93635720	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3387055	chr10:93632397-93635845	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2622548	chr10:93632582-93634962	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3398993	chr10:93632622-93635570	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3530980	chr10:93632919-93634918	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3497855	chr10:93632941-93634999	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs2487514	TNKS2-AS1	cis	Heart Left Ventricle	GTEx
rs2487514	TNKS2-AS1	cis	Stomach	GTEx
rs2487514	TNKS2-AS1	cis	Muscle Skeletal	GTEx
rs2487514	TNKS2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs2487514	TNKS2-AS1	cis	Artery Tibial	GTEx
rs2487514	TNKS2-AS1	cis	Adipose Subcutaneous	GTEx
rs2487514	TNKS2-AS1	cis	Artery Aorta	GTEx
rs2487514	TNKS2-AS1	cis	lung	GTEx
rs2487514	TNKS2-AS1	cis	Thyroid	GTEx
rs2487514	TNKS2-AS1	cis	Nerve Tibial	GTEx
rs2487514	TNKS2-AS1	cis	Esophagus Mucosa	GTEx
rs2487514	TNKS2-AS1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93599600-93634600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:93608800-93639200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:93608800-93643400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:93618400-93639400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr10:93622600-93639000	Weak transcription	Brain Germinal Matrix	brain
6	chr10:93622800-93639200	Weak transcription	Brain Angular Gyrus	brain
7	chr10:93624200-93634400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr10:93624200-93639200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:93625800-93634400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:93625800-93639000	Weak transcription	Fetal Brain Female	brain
11	chr10:93626200-93634800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr10:93626200-93639600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr10:93626200-93643000	Weak transcription	HSMMtube	muscle
14	chr10:93627000-93634400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr10:93627600-93639000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr10:93627600-93639600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:93627800-93639000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr10:93629600-93634600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:93629600-93634800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:93629600-93638800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:93629600-93639000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr10:93629600-93639200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr10:93632800-93639200	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links