Variant report

Variant	rs4603212
Chromosome Location	chr10:93646313-93646314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:93645639..93650363-chr10:93664527..93668609,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272817	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10509636	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10786019	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10881980	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10881981	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10881985	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10881989	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12220444	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12412538	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12413090	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12413256	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1417254	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2297960	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3758499	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4390259	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61874730	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61874731	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7082350	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7087365	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7903827	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7906805	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7912927	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7913826	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7913999	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7917710	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7919141	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7921354	0.82[AMR][1000 genomes];0.88[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4603212	TNKS2	cis	Adipose Subcutaneous	GTEx
rs4603212	TNKS2	cis	Thyroid	GTEx
rs4603212	TNKS2	cis	Skin Sun Exposed Lower leg	GTEx
rs4603212	TNKS2	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93643600-93646800	Weak transcription	Esophagus	oesophagus
2	chr10:93643800-93646800	Weak transcription	Aorta	Aorta
3	chr10:93643800-93646800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr10:93643800-93647000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr10:93643800-93647000	Weak transcription	Lung	lung
6	chr10:93643800-93647000	Weak transcription	Pancreas	Pancrea
7	chr10:93643800-93647000	Weak transcription	HSMM	muscle
8	chr10:93644000-93646800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:93644000-93646800	Weak transcription	Fetal Kidney	kidney
10	chr10:93644000-93646800	Weak transcription	Right Atrium	heart
11	chr10:93644000-93647000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr10:93644000-93647000	Weak transcription	HMEC	breast
13	chr10:93644000-93647000	Weak transcription	NHDF-Ad	bronchial
14	chr10:93644200-93646800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr10:93644200-93646800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:93644200-93646800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr10:93644200-93646800	Weak transcription	Brain Anterior Caudate	brain
18	chr10:93644200-93646800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr10:93644200-93646800	Weak transcription	NH-A	brain
20	chr10:93644200-93647000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:93644200-93647000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr10:93644200-93647200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr10:93644200-93647200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr10:93644200-93648600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:93644400-93646800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:93644400-93646800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:93644400-93646800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:93644400-93646800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr10:93644400-93646800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr10:93644400-93646800	Weak transcription	Adipose Nuclei	Adipose
31	chr10:93644400-93646800	Weak transcription	Brain Angular Gyrus	brain
32	chr10:93644400-93646800	Weak transcription	Brain Hippocampus Middle	brain
33	chr10:93644400-93646800	Weak transcription	Colon Smooth Muscle	Colon
34	chr10:93644400-93646800	Weak transcription	Fetal Muscle Leg	muscle
35	chr10:93644400-93646800	Weak transcription	Fetal Stomach	stomach
36	chr10:93644400-93646800	Weak transcription	Psoas Muscle	Psoas
37	chr10:93644400-93646800	Weak transcription	NHLF	lung
38	chr10:93644400-93646800	Weak transcription	Osteobl	bone
39	chr10:93644400-93647000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr10:93644400-93647000	Weak transcription	Left Ventricle	heart
41	chr10:93644400-93647000	Weak transcription	Right Ventricle	heart
42	chr10:93644600-93646800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:93644800-93646400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr10:93644800-93646800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr10:93644800-93646800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr10:93644800-93646800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr10:93645000-93646400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr10:93645000-93646800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr10:93645000-93646800	Weak transcription	Placenta	Placenta
50	chr10:93645000-93646800	Weak transcription	NHEK	skin

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