Variant report

Variant	rs1045542
Chromosome Location	chr12:118855432-118855433
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	chr12:118843686..118846621-chr12:118854145..118856022,2	K562	blood:
2	chr12:118573808..118576071-chr12:118855410..118857691,2	K562	blood:

Variant related genes	Relation type
ENSG00000176834	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11069000	1.00[ASN][1000 genomes]
rs12298592	1.00[ASN][1000 genomes]
rs17441179	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1879405	1.00[ASN][1000 genomes]
rs2062525	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34789655	1.00[ASN][1000 genomes]
rs35506792	1.00[ASN][1000 genomes]
rs55753185	1.00[ASN][1000 genomes]
rs73411684	1.00[ASN][1000 genomes]
rs73412971	1.00[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	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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1045542	SUDS3	cis	temporal cortex	BrainEAC
rs1045542	SUDS3	Cis_1M	lymphoblastoid	RTeQTL
rs1045542	SUDS3	cis	hippocampus	BrainEAC
rs1045542	SUDS3	cis	occipital cortex	BrainEAC
rs1045542	SUDS3	cis	cerebellar cortex	BrainEAC
rs1045542	SUDS3	cis	thalamus	BrainEAC
rs1045542	SUDS3	cis	brain	BrainEAC
rs1045542	SUDS3	cis	intralobular white matter	BrainEAC
rs1045542	SUDS3	cis	substantia nigra	BrainEAC

Chromatin state (count:123 , 50 per page) page: 1 2 3

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	chr12:118816800-118856600	Strong transcription	Placenta	Placenta
4	chr12:118817000-118855600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:118817000-118856000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr12:118817200-118856600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:118817200-118856600	Strong transcription	Fetal Intestine Large	intestine
8	chr12:118822000-118856200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:118830000-118856800	Strong transcription	Adipose Nuclei	Adipose
10	chr12:118830800-118857400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:118836200-118856800	Strong transcription	Fetal Muscle Leg	muscle
12	chr12:118840400-118856000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:118841000-118856200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:118846000-118855800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr12:118846600-118856000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:118847200-118856400	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr12:118847400-118857000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:118847600-118855800	Strong transcription	A549	lung
19	chr12:118848400-118856000	Strong transcription	Primary hematopoietic stem cells	blood
20	chr12:118848800-118857400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr12:118849200-118855600	Weak transcription	Hela-S3	cervix
22	chr12:118850400-118860400	Weak transcription	Fetal Brain Male	brain
23	chr12:118850800-118856400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:118850800-118856600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:118850800-118856600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:118851400-118857200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:118851600-118855800	Weak transcription	Stomach Mucosa	stomach
28	chr12:118851800-118856400	Strong transcription	Fetal Lung	lung
29	chr12:118852200-118860200	Weak transcription	NHDF-Ad	bronchial
30	chr12:118852600-118864600	Weak transcription	HSMMtube	muscle
31	chr12:118852800-118857000	Weak transcription	K562	blood
32	chr12:118853200-118865400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:118853400-118855600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:118853400-118855600	Weak transcription	HMEC	breast
35	chr12:118853400-118856400	Weak transcription	Esophagus	oesophagus
36	chr12:118853400-118859800	Weak transcription	HepG2	liver
37	chr12:118853400-118867600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:118854000-118855600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:118854000-118855600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:118854000-118855600	Weak transcription	Brain Substantia Nigra	brain
41	chr12:118854000-118855800	Weak transcription	Pancreas	Pancrea
42	chr12:118854000-118857400	Weak transcription	Fetal Kidney	kidney
43	chr12:118854000-118857600	Weak transcription	Fetal Brain Female	brain
44	chr12:118854000-118870800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:118854200-118855800	Weak transcription	Brain Anterior Caudate	brain
46	chr12:118854200-118855800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:118854200-118856000	Weak transcription	Dnd41	blood
48	chr12:118854200-118857800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:118854200-118858000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:118854200-118860200	Weak transcription	NH-A	brain

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