Variant report

Variant	rs7917710
Chromosome Location	chr10:93644552-93644553
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:93643244..93645164-chr10:93648326..93650268,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10509634	0.80[CEU][hapmap]
rs10509636	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10786014	0.80[CEU][hapmap];0.81[GIH][hapmap]
rs10786019	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10881966	0.80[CEU][hapmap]
rs10881967	0.80[CEU][hapmap];1.00[MEX][hapmap]
rs10881969	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10881971	0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10881975	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10881980	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10881981	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10881985	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10881989	0.87[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11186697	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12220444	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12221087	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12412538	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12413090	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12413256	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12782935	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1341263	0.80[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap]
rs1417254	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1539040	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1592050	0.93[GIH][hapmap]
rs2066275	0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2297960	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2901505	0.91[CEU][hapmap]
rs3758499	0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4390259	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4603212	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61874730	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61874731	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7082350	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7087365	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7903827	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7906805	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7912927	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7913826	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7913999	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7919141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7921354	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7917710	TNKS2	cis	Esophagus Muscularis	GTEx
rs7917710	TNKS2	cis	Nerve Tibial	GTEx
rs7917710	COL16A1	trans	parietal	SCAN
rs7917710	TNKS2	cis	Thyroid	GTEx
rs7917710	TNKS2	cis	parietal	SCAN
rs7917710	TNKS2-AS1	cis	Heart Left Ventricle	GTEx
rs7917710	LIPA	cis	parietal	SCAN
rs7917710	TPBG	trans	lymphoblastoid	seeQTL
rs7917710	TNKS2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93640600-93644800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:93642600-93645000	Enhancers	Placenta	Placenta
3	chr10:93643000-93644600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:93643000-93645600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:93643000-93645800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr10:93643000-93645800	Enhancers	Fetal Brain Male	brain
7	chr10:93643200-93644800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr10:93643200-93644800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr10:93643200-93645000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr10:93643400-93645200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr10:93643400-93645600	Enhancers	Brain Substantia Nigra	brain
12	chr10:93643600-93646800	Weak transcription	Esophagus	oesophagus
13	chr10:93643800-93644600	Enhancers	Fetal Muscle Trunk	muscle
14	chr10:93643800-93645000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr10:93643800-93645200	Enhancers	Stomach Smooth Muscle	stomach
16	chr10:93643800-93645200	Enhancers	HSMMtube	muscle
17	chr10:93643800-93645400	Enhancers	Fetal Lung	lung
18	chr10:93643800-93645800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr10:93643800-93645800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:93643800-93646800	Weak transcription	Aorta	Aorta
21	chr10:93643800-93646800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr10:93643800-93647000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr10:93643800-93647000	Weak transcription	Lung	lung
24	chr10:93643800-93647000	Weak transcription	Pancreas	Pancrea
25	chr10:93643800-93647000	Weak transcription	HSMM	muscle
26	chr10:93644000-93644600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr10:93644000-93644800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:93644000-93645000	Enhancers	NHEK	skin
29	chr10:93644000-93645200	Enhancers	Brain Cingulate Gyrus	brain
30	chr10:93644000-93645400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr10:93644000-93645600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr10:93644000-93645600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr10:93644000-93645600	Enhancers	Fetal Heart	heart
34	chr10:93644000-93645800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr10:93644000-93645800	Enhancers	Fetal Brain Female	brain
36	chr10:93644000-93646800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:93644000-93646800	Weak transcription	Fetal Kidney	kidney
38	chr10:93644000-93646800	Weak transcription	Right Atrium	heart
39	chr10:93644000-93647000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr10:93644000-93647000	Weak transcription	HMEC	breast
41	chr10:93644000-93647000	Weak transcription	NHDF-Ad	bronchial
42	chr10:93644200-93644800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr10:93644200-93645000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:93644200-93645400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr10:93644200-93645600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr10:93644200-93645800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr10:93644200-93646800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr10:93644200-93646800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr10:93644200-93646800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr10:93644200-93646800	Weak transcription	Brain Anterior Caudate	brain

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