Variant report

Variant	rs7132753
Chromosome Location	chr12:118858188-118858189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118834411..118836226-chr12:118855640..118858351,2	K562	blood:
2	chr12:118842598..118845034-chr12:118857564..118860221,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs1060964	0.97[EUR][1000 genomes]
rs11068926	0.80[EUR][1000 genomes]
rs17440669	0.91[AFR][1000 genomes]
rs17440774	0.91[AFR][1000 genomes]
rs17440823	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17440893	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17440942	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17441033	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17441047	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17441061	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17441075	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17441172	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17441214	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17441251	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17512407	0.81[AFR][1000 genomes]
rs17512483	0.81[AFR][1000 genomes]
rs17512525	0.91[AFR][1000 genomes]
rs17512574	0.80[EUR][1000 genomes]
rs17512609	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17512644	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17512652	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17512763	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17513006	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17513013	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1909617	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2055534	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2393403	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2393415	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2393416	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2784	0.81[AFR][1000 genomes]
rs3852531	0.81[AFR][1000 genomes]
rs4406856	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4442583	0.80[EUR][1000 genomes]
rs4457791	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4766900	0.87[EUR][1000 genomes]
rs4767669	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4767670	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4767672	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs55659011	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55842338	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56080343	0.84[EUR][1000 genomes]
rs56133316	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs56157623	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs56284927	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs56347775	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61943362	0.81[AFR][1000 genomes]
rs61943364	0.91[AFR][1000 genomes]
rs61943367	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61943368	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61943370	0.80[EUR][1000 genomes]
rs61943371	0.80[EUR][1000 genomes]
rs61943385	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61943388	0.88[EUR][1000 genomes]
rs61943389	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61943391	0.87[EUR][1000 genomes]
rs61943392	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61943393	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61943397	0.87[EUR][1000 genomes]
rs61943399	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61943400	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61943401	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61943402	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61943403	0.87[EUR][1000 genomes]
rs61943404	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61943405	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61943406	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61943443	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61943444	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61943447	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61943451	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61943452	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61943454	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61943455	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61943456	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61943457	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61945189	0.81[AFR][1000 genomes]
rs61945192	0.91[AFR][1000 genomes]
rs61945212	0.91[AFR][1000 genomes]
rs61945217	0.81[AFR][1000 genomes]
rs61945220	0.91[AFR][1000 genomes]
rs61945221	0.91[AFR][1000 genomes]
rs61945223	0.81[AFR][1000 genomes]
rs61945224	0.81[AFR][1000 genomes]
rs61945225	0.81[AFR][1000 genomes]
rs61946067	0.91[AFR][1000 genomes]
rs61946068	0.91[AFR][1000 genomes]
rs673078	0.83[AFR][1000 genomes]
rs7136676	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7137055	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7137184	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7295288	0.95[EUR][1000 genomes]
rs7299040	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7302387	0.81[AFR][1000 genomes]
rs7304342	0.87[EUR][1000 genomes]
rs7305647	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7307393	0.91[AFR][1000 genomes]
rs7309484	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7309671	0.91[AFR][1000 genomes]
rs7312555	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7314987	0.81[AFR][1000 genomes]
rs73205531	0.91[AFR][1000 genomes]
rs73205576	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73205594	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73207504	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73207564	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73207566	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7958551	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7958652	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7960802	0.81[AFR][1000 genomes]
rs7961312	0.81[AFR][1000 genomes]
rs7967900	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7968011	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7968371	0.85[EUR][1000 genomes]
rs882927	0.96[EUR][1000 genomes]
rs884844	0.86[EUR][1000 genomes]
rs950288	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs965524	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7132753	SUDS3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118816000-118862000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:118816200-118863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:118850400-118860400	Weak transcription	Fetal Brain Male	brain
4	chr12:118852200-118860200	Weak transcription	NHDF-Ad	bronchial
5	chr12:118852600-118864600	Weak transcription	HSMMtube	muscle
6	chr12:118853200-118865400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:118853400-118859800	Weak transcription	HepG2	liver
8	chr12:118853400-118867600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:118854000-118870800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:118854200-118860200	Weak transcription	NH-A	brain
11	chr12:118854200-118864600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:118854400-118860200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:118854400-118867600	Weak transcription	Gastric	stomach
14	chr12:118854600-118859200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:118854600-118864800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:118854600-118866800	Weak transcription	Aorta	Aorta
17	chr12:118854600-118867600	Weak transcription	Ovary	ovary
18	chr12:118854600-118870800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:118854600-118874400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:118854800-118858400	Weak transcription	GM12878-XiMat	blood
21	chr12:118854800-118859600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:118854800-118860000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:118854800-118860400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:118854800-118861600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:118854800-118865400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:118854800-118865400	Weak transcription	Primary B cells from cord blood	blood
27	chr12:118854800-118865600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:118854800-118867600	Weak transcription	Psoas Muscle	Psoas
29	chr12:118854800-118870600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:118854800-118874400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:118855000-118858200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:118855000-118858200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:118855000-118858600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:118855000-118859200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:118855000-118859800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:118855000-118860600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:118855000-118860600	Weak transcription	Right Ventricle	heart
38	chr12:118855000-118863200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:118855000-118865000	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:118855000-118867000	Weak transcription	Liver	Liver
41	chr12:118855000-118867600	Weak transcription	Lung	lung
42	chr12:118855000-118867600	Weak transcription	Small Intestine	intestine
43	chr12:118855200-118858200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:118855200-118862400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:118855200-118865600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:118855200-118866000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr12:118855200-118866600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:118855200-118868200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:118855200-118870000	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:118855200-118874200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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