Variant report

Variant	rs7118546
Chromosome Location	chr11:47087128-47087129
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47085147..47087563-chr11:47092809..47094555,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10466478	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1060573	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10769230	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10769233	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10769234	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10769239	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10838654	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10838659	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10838660	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11039074	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11039086	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11039097	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11039105	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11039107	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11039112	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11600668	0.84[EUR][1000 genomes]
rs12224096	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12796744	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1872896	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1965952	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2018527	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4319472	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4579897	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4752952	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4752957	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4752962	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4752963	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4752967	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57323109	0.84[EUR][1000 genomes]
rs6485721	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6485722	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6485739	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7103581	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7108902	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7121418	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7125807	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7128325	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs747650	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7479189	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7937950	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7942473	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7945315	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7946709	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7947878	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9300055	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043108	chr11:47041565-47117248	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7118546	CTD-2384B9.1	cis	Nerve Tibial	GTEx

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47068400-47092400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr11:47071600-47089000	Weak transcription	Gastric	stomach
3	chr11:47072600-47093000	Weak transcription	Ovary	ovary
4	chr11:47072800-47093000	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:47073200-47092400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:47073600-47088600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:47073800-47092200	Weak transcription	Placenta	Placenta
8	chr11:47073800-47100200	Weak transcription	Thymus	Thymus
9	chr11:47075200-47087400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:47075200-47093400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:47075800-47093400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:47077600-47113200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:47077800-47088200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:47078000-47097000	Weak transcription	Aorta	Aorta
15	chr11:47078200-47093200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:47078400-47092400	Weak transcription	Small Intestine	intestine
17	chr11:47078600-47092600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:47079400-47093000	Weak transcription	Fetal Brain Male	brain
19	chr11:47080000-47092400	Weak transcription	Fetal Intestine Small	intestine
20	chr11:47080000-47092400	Weak transcription	Fetal Stomach	stomach
21	chr11:47080400-47090000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:47080600-47093200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:47080800-47103000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:47081000-47092400	Weak transcription	Fetal Intestine Large	intestine
25	chr11:47081200-47089000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:47082800-47087400	Weak transcription	Primary T cells from cord blood	blood
27	chr11:47082800-47088200	Weak transcription	NHDF-Ad	bronchial
28	chr11:47083000-47087800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:47083000-47088200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:47083000-47088400	Weak transcription	NHLF	lung
31	chr11:47083200-47088200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:47083200-47089000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:47083200-47093000	Weak transcription	Brain Anterior Caudate	brain
34	chr11:47083200-47093000	Weak transcription	Brain Substantia Nigra	brain
35	chr11:47083200-47100600	Weak transcription	NH-A	brain
36	chr11:47083400-47089000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr11:47083400-47091600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:47083600-47088200	Weak transcription	Hela-S3	cervix
39	chr11:47083600-47089000	Weak transcription	K562	blood
40	chr11:47083600-47092800	Weak transcription	A549	lung
41	chr11:47084000-47088400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:47084400-47088400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:47084400-47088400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:47084400-47090800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:47084600-47087800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:47084600-47087800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:47084600-47089000	Weak transcription	Fetal Muscle Leg	muscle
48	chr11:47084600-47092000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:47084600-47093000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:47084600-47093400	Weak transcription	H1 Cell Line	embryonic stem cell

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