Variant report

Variant	rs7919141
Chromosome Location	chr10:93639728-93639729
allele	A/C
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
ENSG00000095564	Chromatin interaction
ENSG00000174721	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10509634	0.81[CEU][hapmap]
rs10509636	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10786014	0.80[CEU][hapmap]
rs10786019	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10881966	0.81[CEU][hapmap]
rs10881967	0.80[CEU][hapmap]
rs10881969	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10881971	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10881975	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10881980	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10881981	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10881985	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10881989	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11186697	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12220444	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12221087	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12412538	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12413090	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12413256	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12782935	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1341263	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes]
rs1417254	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1539040	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2066275	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2297960	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2901505	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs3758499	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4390259	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4603212	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61874730	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61874731	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7082350	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7087365	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7903827	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7906805	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7912927	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7913826	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7913999	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7917710	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7921354	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7919141	TNKS2	cis	Esophagus Muscularis	GTEx
rs7919141	TNKS2	cis	Nerve Tibial	GTEx
rs7919141	TNKS2	cis	Skin Sun Exposed Lower leg	GTEx
rs7919141	TNKS2	cis	Thyroid	GTEx
rs7919141	TNKS2-AS1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:45 , 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	chr10:93626200-93643000	Weak transcription	HSMMtube	muscle
3	chr10:93635000-93643200	Weak transcription	Right Atrium	heart
4	chr10:93638800-93640600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr10:93639000-93640200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr10:93639000-93640400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr10:93639000-93640400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr10:93639000-93640600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr10:93639000-93640600	Enhancers	Brain Germinal Matrix	brain
10	chr10:93639000-93640600	Enhancers	Fetal Brain Male	brain
11	chr10:93639000-93640800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr10:93639200-93639800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:93639200-93639800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:93639200-93639800	Enhancers	Esophagus	oesophagus
15	chr10:93639200-93639800	Enhancers	Fetal Heart	heart
16	chr10:93639200-93640000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:93639200-93640000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:93639200-93640000	Enhancers	Brain Anterior Caudate	brain
19	chr10:93639200-93640200	Enhancers	Brain Hippocampus Middle	brain
20	chr10:93639200-93640400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr10:93639200-93640400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr10:93639200-93640400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr10:93639200-93640400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr10:93639200-93640600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr10:93639200-93641400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr10:93639200-93642200	Enhancers	Placenta	Placenta
27	chr10:93639400-93639800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:93639400-93640200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr10:93639400-93640200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr10:93639400-93640200	Flanking Active TSS	Fetal Brain Female	brain
31	chr10:93639400-93640400	Enhancers	Brain Cingulate Gyrus	brain
32	chr10:93639400-93640600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr10:93639400-93640800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:93639400-93641000	Enhancers	NHEK	skin
35	chr10:93639400-93643200	Weak transcription	Brain Angular Gyrus	brain
36	chr10:93639600-93640000	Enhancers	HepG2	liver
37	chr10:93639600-93640200	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr10:93639600-93640400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr10:93639600-93640400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr10:93639600-93640400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr10:93639600-93640400	Enhancers	Brain Substantia Nigra	brain
42	chr10:93639600-93640400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr10:93639600-93640600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr10:93639600-93640800	Enhancers	HMEC	breast
45	chr10:93639600-93641000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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