Variant report

Variant	rs7919191
Chromosome Location	chr10:93639552-93639553
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:93638890..93643512-chr10:93665882..93670219,9	MCF-7	breast:
2	chr10:93638059..93641672-chr10:93681049..93683589,4	MCF-7	breast:
3	chr10:93638107..93642679-chr10:93666717..93670620,8	MCF-7	breast:
4	chr10:93620389..93623626-chr10:93637886..93641413,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272817	Chromatin interaction
ENSG00000174721	Chromatin interaction
ENSG00000095564	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10881970	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10881986	0.88[ASN][1000 genomes]
rs11186687	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11186694	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11186699	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11186716	0.81[ASN][1000 genomes]
rs11186728	0.83[ASN][1000 genomes]
rs12359353	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1538831	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1630388	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1770469	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1770474	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1772187	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2258946	0.80[EUR][1000 genomes]
rs2259094	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2259287	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2259659	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2260773	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2261029	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2261035	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4565819	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583788	0.80[AMR][1000 genomes]
rs6583789	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7083959	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7089122	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823162	0.82[EUR][1000 genomes]
rs9420573	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9633672	0.81[ASN][1000 genomes]
rs9633689	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv1819110	chr10:93634155-93643195	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv1842657	chr10:93634155-93668663	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7919191	TNKS2	cis	Thyroid	GTEx
rs7919191	TNKS2	cis	Adipose Subcutaneous	GTEx
rs7919191	TNKS2-AS1	cis	Thyroid	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93608800-93643400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:93626200-93639600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr10:93626200-93643000	Weak transcription	HSMMtube	muscle
4	chr10:93627600-93639600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:93635000-93643200	Weak transcription	Right Atrium	heart
6	chr10:93638800-93640600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:93639000-93639600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr10:93639000-93639600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr10:93639000-93640200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:93639000-93640400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr10:93639000-93640400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr10:93639000-93640600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr10:93639000-93640600	Enhancers	Brain Germinal Matrix	brain
14	chr10:93639000-93640600	Enhancers	Fetal Brain Male	brain
15	chr10:93639000-93640800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr10:93639200-93639800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:93639200-93639800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:93639200-93639800	Enhancers	Esophagus	oesophagus
19	chr10:93639200-93639800	Enhancers	Fetal Heart	heart
20	chr10:93639200-93640000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:93639200-93640000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:93639200-93640000	Enhancers	Brain Anterior Caudate	brain
23	chr10:93639200-93640200	Enhancers	Brain Hippocampus Middle	brain
24	chr10:93639200-93640400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr10:93639200-93640400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:93639200-93640400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr10:93639200-93640400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr10:93639200-93640600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr10:93639200-93641400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr10:93639200-93642200	Enhancers	Placenta	Placenta
31	chr10:93639400-93639800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr10:93639400-93640200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr10:93639400-93640200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr10:93639400-93640200	Flanking Active TSS	Fetal Brain Female	brain
35	chr10:93639400-93640400	Enhancers	Brain Cingulate Gyrus	brain
36	chr10:93639400-93640600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr10:93639400-93640800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:93639400-93641000	Enhancers	NHEK	skin
39	chr10:93639400-93643200	Weak transcription	Brain Angular Gyrus	brain

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