Variant report

Variant	rs4611111
Chromosome Location	chr10:93644660-93644661
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: 35 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10881967	0.80[JPT][hapmap]
rs10881973	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10881974	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10881978	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10881979	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10881987	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10881988	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186696	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11186719	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11186721	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11186722	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186723	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12253245	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1539042	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1592050	0.80[JPT][hapmap]
rs1770466	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1770476	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1772179	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1772182	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1772183	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1772189	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1890896	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2153655	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2259305	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2994393	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3802650	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4612711	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4933698	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7069232	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7076687	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7079479	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7096581	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7917858	0.85[AMR][1000 genomes];0.88[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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4611111	TNKS2-AS1	cis	Thyroid	GTEx
rs4611111	TNKS2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs4611111	TNKS2-AS1	cis	Heart Left Ventricle	GTEx
rs4611111	TNKS2-AS1	cis	Adipose Subcutaneous	GTEx
rs4611111	TNKS2-AS1	cis	Artery Tibial	GTEx
rs4611111	TNKS2-AS1	cis	Esophagus Mucosa	GTEx
rs4611111	TNKS2-AS1	cis	lung	GTEx
rs4611111	TNKS2-AS1	cis	Muscle Skeletal	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	chr10:93643000-93645600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:93643000-93645800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr10:93643000-93645800	Enhancers	Fetal Brain Male	brain
6	chr10:93643200-93644800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr10:93643200-93644800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr10:93643200-93645000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:93643400-93645200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr10:93643400-93645600	Enhancers	Brain Substantia Nigra	brain
11	chr10:93643600-93646800	Weak transcription	Esophagus	oesophagus
12	chr10:93643800-93645000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr10:93643800-93645200	Enhancers	Stomach Smooth Muscle	stomach
14	chr10:93643800-93645200	Enhancers	HSMMtube	muscle
15	chr10:93643800-93645400	Enhancers	Fetal Lung	lung
16	chr10:93643800-93645800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr10:93643800-93645800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:93643800-93646800	Weak transcription	Aorta	Aorta
19	chr10:93643800-93646800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr10:93643800-93647000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr10:93643800-93647000	Weak transcription	Lung	lung
22	chr10:93643800-93647000	Weak transcription	Pancreas	Pancrea
23	chr10:93643800-93647000	Weak transcription	HSMM	muscle
24	chr10:93644000-93644800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:93644000-93645000	Enhancers	NHEK	skin
26	chr10:93644000-93645200	Enhancers	Brain Cingulate Gyrus	brain
27	chr10:93644000-93645400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr10:93644000-93645600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr10:93644000-93645600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr10:93644000-93645600	Enhancers	Fetal Heart	heart
31	chr10:93644000-93645800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr10:93644000-93645800	Enhancers	Fetal Brain Female	brain
33	chr10:93644000-93646800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:93644000-93646800	Weak transcription	Fetal Kidney	kidney
35	chr10:93644000-93646800	Weak transcription	Right Atrium	heart
36	chr10:93644000-93647000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr10:93644000-93647000	Weak transcription	HMEC	breast
38	chr10:93644000-93647000	Weak transcription	NHDF-Ad	bronchial
39	chr10:93644200-93644800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr10:93644200-93645000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:93644200-93645400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr10:93644200-93645600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr10:93644200-93645800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr10:93644200-93646800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr10:93644200-93646800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:93644200-93646800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr10:93644200-93646800	Weak transcription	Brain Anterior Caudate	brain
48	chr10:93644200-93646800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr10:93644200-93646800	Weak transcription	NH-A	brain
50	chr10:93644200-93647000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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