Variant report

Variant	rs775232
Chromosome Location	chr3:113032711-113032712
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10934228	0.86[AMR][1000 genomes]
rs11715198	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12488964	0.81[EUR][1000 genomes]
rs17321330	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1906142	0.86[EUR][1000 genomes]
rs1979554	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2054823	0.82[EUR][1000 genomes]
rs2171293	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2895413	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35935366	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4682138	0.86[EUR][1000 genomes]
rs4682486	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6438140	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6438143	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6438144	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6438145	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6438146	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6438147	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6438148	0.86[EUR][1000 genomes]
rs66524865	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6768117	0.86[EUR][1000 genomes]
rs6775574	0.82[EUR][1000 genomes]
rs6777880	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6805691	0.81[EUR][1000 genomes]
rs7617772	0.81[EUR][1000 genomes]
rs7618884	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7621210	0.81[EUR][1000 genomes]
rs7623122	0.86[EUR][1000 genomes]
rs7625841	0.80[EUR][1000 genomes]
rs7633428	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7650538	0.80[EUR][1000 genomes]
rs775233	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9682734	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9815835	0.82[EUR][1000 genomes]
rs9840124	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9848087	0.81[EUR][1000 genomes]
rs9866748	0.82[EUR][1000 genomes]
rs9869141	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs775232	SIDT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112990400-113036000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:112993800-113036000	Weak transcription	Right Ventricle	heart
3	chr3:112995400-113035800	Weak transcription	Lung	lung
4	chr3:112995800-113035800	Weak transcription	Thymus	Thymus
5	chr3:112996200-113034400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:112996400-113046400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:112997200-113036200	Weak transcription	Spleen	Spleen
8	chr3:112998600-113036000	Weak transcription	Gastric	stomach
9	chr3:113001200-113044600	Weak transcription	Fetal Kidney	kidney
10	chr3:113006200-113035400	Weak transcription	Esophagus	oesophagus
11	chr3:113006200-113036000	Weak transcription	Pancreas	Pancrea
12	chr3:113007000-113034400	Weak transcription	HSMM	muscle
13	chr3:113007200-113043400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:113007600-113034200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:113008200-113035800	Weak transcription	Fetal Intestine Small	intestine
16	chr3:113009000-113032800	Weak transcription	Primary B cells from cord blood	blood
17	chr3:113010800-113034400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:113010800-113034400	Weak transcription	Fetal Lung	lung
19	chr3:113010800-113035800	Weak transcription	Ovary	ovary
20	chr3:113011000-113036000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:113011600-113034000	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:113013600-113034400	Weak transcription	A549	lung
23	chr3:113013600-113065200	Weak transcription	Left Ventricle	heart
24	chr3:113017800-113036000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:113020800-113041200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:113022600-113035800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr3:113023200-113034000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr3:113023200-113034200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:113023200-113034400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr3:113023400-113032800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:113023400-113041600	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:113023600-113034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr3:113024200-113038000	Weak transcription	Colonic Mucosa	Colon
34	chr3:113024400-113032800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:113024400-113034000	Weak transcription	HSMMtube	muscle
36	chr3:113024600-113033400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr3:113024600-113046600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:113024600-113081000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr3:113024800-113033200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:113025200-113034000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:113025600-113033400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr3:113025600-113034200	Weak transcription	Liver	Liver
43	chr3:113028600-113053400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr3:113030000-113036000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:113030600-113035200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:113031000-113032800	Weak transcription	Primary T cells from cord blood	blood
47	chr3:113031600-113035800	Weak transcription	Fetal Stomach	stomach
48	chr3:113032000-113032800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:113032600-113034000	Weak transcription	Primary hematopoietic stem cells	blood

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