Variant report

Variant	rs7082350
Chromosome Location	chr10:93628164-93628165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:93627211..93629646-chr10:93632804..93634788,2	MCF-7	breast:
2	chr10:93623670..93626355-chr10:93627411..93630158,2	MCF-7	breast:
3	chr10:93627568..93629782-chr10:93667087..93669916,2	MCF-7	breast:
4	chr10:93621243..93623649-chr10:93626031..93628868,2	K562	blood:
5	chr10:93576673..93578768-chr10:93627898..93630166,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272817	Chromatin interaction
ENSG00000174721	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10509636	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10786019	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10881960	0.82[EUR][1000 genomes]
rs10881969	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881971	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881975	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10881980	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10881981	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10881985	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10881989	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11186668	0.84[EUR][1000 genomes]
rs11186697	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12220444	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12221087	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12412538	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12413090	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12413256	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12782935	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1341263	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1417254	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1539040	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2066275	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2297960	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2901505	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3758499	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4390259	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4603212	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61874730	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61874731	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7087365	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7903827	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7906805	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7912927	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7913826	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7913999	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7917710	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7919141	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7921354	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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	nsv511445	chr10:93627158-93635541	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7082350	TNKS2	cis	Thyroid	GTEx
rs7082350	TNKS2	cis	Esophagus Muscularis	GTEx
rs7082350	TNKS2	cis	Adipose Subcutaneous	GTEx
rs7082350	TNKS2	cis	Skin Sun Exposed Lower leg	GTEx
rs7082350	TNKS2	cis	Nerve Tibial	GTEx
rs7082350	TNKS2-AS1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93572600-93629000	Weak transcription	Stomach Mucosa	stomach
2	chr10:93598400-93629000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:93599200-93629000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:93599600-93634600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:93606400-93630200	Weak transcription	Esophagus	oesophagus
6	chr10:93608800-93639200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:93608800-93643400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:93618400-93639400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr10:93620600-93631000	Weak transcription	HepG2	liver
10	chr10:93621200-93628800	Weak transcription	Brain Hippocampus Middle	brain
11	chr10:93621400-93628600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:93621400-93629400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:93622400-93629000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:93622600-93639000	Weak transcription	Brain Germinal Matrix	brain
15	chr10:93622800-93639200	Weak transcription	Brain Angular Gyrus	brain
16	chr10:93624200-93628200	Weak transcription	Colon Smooth Muscle	Colon
17	chr10:93624200-93628400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr10:93624200-93629000	Weak transcription	Fetal Muscle Leg	muscle
19	chr10:93624200-93630200	Weak transcription	Brain Anterior Caudate	brain
20	chr10:93624200-93634400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr10:93624200-93639200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:93624400-93628200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr10:93624800-93628400	Weak transcription	NHDF-Ad	bronchial
24	chr10:93624800-93629200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:93625600-93628800	Weak transcription	Placenta	Placenta
26	chr10:93625800-93628600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr10:93625800-93632200	Weak transcription	HSMM	muscle
28	chr10:93625800-93634400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr10:93625800-93639000	Weak transcription	Fetal Brain Female	brain
30	chr10:93626000-93628200	Weak transcription	A549	lung
31	chr10:93626000-93628400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr10:93626000-93628400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr10:93626000-93628600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr10:93626000-93628600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr10:93626000-93628800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr10:93626000-93629000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr10:93626000-93629000	Weak transcription	HMEC	breast
38	chr10:93626000-93629200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr10:93626000-93629800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr10:93626200-93628200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr10:93626200-93628200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr10:93626200-93628200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr10:93626200-93628800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr10:93626200-93629000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr10:93626200-93629000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:93626200-93630000	Weak transcription	NHEK	skin
47	chr10:93626200-93630200	Weak transcription	Adipose Nuclei	Adipose
48	chr10:93626200-93634800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr10:93626200-93639600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr10:93626200-93643000	Weak transcription	HSMMtube	muscle

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