Variant report

Variant	rs10082823
Chromosome Location	chr12:118803191-118803192
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118799005..118800593-chr12:118802785..118804856,2	K562	blood:
2	chr12:118801232..118804376-chr12:118805641..118807546,3	K562	blood:
3	chr12:118801970..118805772-chr12:118808206..118812909,6	MCF-7	breast:
4	chr12:118795210..118796886-chr12:118801131..118803860,2	K562	blood:

Variant related genes	Relation type
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10850967	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068910	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11068917	0.86[EUR][1000 genomes]
rs11068919	0.89[EUR][1000 genomes]
rs11068926	0.93[EUR][1000 genomes]
rs12308475	0.81[EUR][1000 genomes]
rs17440893	0.83[EUR][1000 genomes]
rs17440942	0.85[EUR][1000 genomes]
rs17512644	0.81[EUR][1000 genomes]
rs17512652	0.81[EUR][1000 genomes]
rs17512763	0.85[EUR][1000 genomes]
rs17619932	0.87[EUR][1000 genomes]
rs1909617	0.85[EUR][1000 genomes]
rs2036314	0.93[EUR][1000 genomes]
rs2036489	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2055534	0.85[EUR][1000 genomes]
rs2062519	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4442583	0.93[EUR][1000 genomes]
rs4766899	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4766900	0.85[EUR][1000 genomes]
rs4767669	0.85[EUR][1000 genomes]
rs4767670	0.85[EUR][1000 genomes]
rs4767672	0.85[EUR][1000 genomes]
rs56133316	0.85[EUR][1000 genomes]
rs56157623	0.85[EUR][1000 genomes]
rs56324376	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59594854	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61943367	0.85[EUR][1000 genomes]
rs61943368	0.85[EUR][1000 genomes]
rs61943369	0.93[EUR][1000 genomes]
rs61943370	0.93[EUR][1000 genomes]
rs61943371	0.93[EUR][1000 genomes]
rs61943385	0.85[EUR][1000 genomes]
rs61943388	0.85[EUR][1000 genomes]
rs61943389	0.85[EUR][1000 genomes]
rs61943391	0.84[EUR][1000 genomes]
rs61943392	0.85[EUR][1000 genomes]
rs61943393	0.85[EUR][1000 genomes]
rs61943397	0.85[EUR][1000 genomes]
rs61943399	0.85[EUR][1000 genomes]
rs61943400	0.85[EUR][1000 genomes]
rs61943401	0.85[EUR][1000 genomes]
rs61943402	0.85[EUR][1000 genomes]
rs61943403	0.85[EUR][1000 genomes]
rs61943404	0.85[EUR][1000 genomes]
rs61946063	0.81[EUR][1000 genomes]
rs6490175	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6490177	0.91[EUR][1000 genomes]
rs7137055	0.85[EUR][1000 genomes]
rs7137184	0.85[EUR][1000 genomes]
rs7294498	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7296214	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7299040	0.85[EUR][1000 genomes]
rs7304342	0.85[EUR][1000 genomes]
rs7309484	0.85[EUR][1000 genomes]
rs7315458	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73205551	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73205576	0.85[EUR][1000 genomes]
rs73205594	0.85[EUR][1000 genomes]
rs7957828	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7967900	0.85[EUR][1000 genomes]
rs7968011	0.85[EUR][1000 genomes]
rs7968371	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs884844	0.85[EUR][1000 genomes]
rs950288	0.85[EUR][1000 genomes]
rs9943819	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][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	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	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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
rs10082823	SUDS3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118794800-118807800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:118794800-118808400	Weak transcription	Small Intestine	intestine
3	chr12:118794800-118809000	Weak transcription	Lung	lung
4	chr12:118794800-118809000	Weak transcription	Pancreas	Pancrea
5	chr12:118794800-118809200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:118794800-118809200	Weak transcription	Esophagus	oesophagus
7	chr12:118795600-118808600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:118796200-118808200	Weak transcription	Brain Substantia Nigra	brain
9	chr12:118797000-118807200	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:118797200-118808000	Weak transcription	Liver	Liver
11	chr12:118797200-118808000	Weak transcription	Fetal Lung	lung
12	chr12:118797200-118808400	Weak transcription	Fetal Stomach	stomach
13	chr12:118797400-118803400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:118797400-118808200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:118797400-118808400	Weak transcription	Fetal Intestine Large	intestine
16	chr12:118797600-118807800	Weak transcription	Adipose Nuclei	Adipose
17	chr12:118797600-118808200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr12:118797600-118808400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:118797600-118808400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:118797600-118808400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:118797600-118808400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:118797600-118808600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:118797600-118808600	Weak transcription	Fetal Intestine Small	intestine
24	chr12:118797800-118808000	Weak transcription	GM12878-XiMat	blood
25	chr12:118797800-118808400	Weak transcription	Primary T cells from cord blood	blood
26	chr12:118798000-118808200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:118798000-118808400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:118798200-118807600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:118798200-118807800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr12:118798800-118803400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr12:118798800-118808600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:118799200-118803200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:118799200-118806800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:118799200-118808200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:118799200-118808400	Weak transcription	A549	lung
36	chr12:118799200-118808400	Weak transcription	Osteobl	bone
37	chr12:118799200-118808600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:118799200-118808600	Weak transcription	NH-A	brain
39	chr12:118799200-118809000	Weak transcription	HSMM	muscle
40	chr12:118799400-118807800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:118799400-118808200	Weak transcription	HMEC	breast
42	chr12:118799600-118808400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:118800000-118808400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:118800200-118807000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:118800400-118804800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:118800600-118807600	Weak transcription	Primary B cells from cord blood	blood
47	chr12:118801400-118803400	Enhancers	K562	blood
48	chr12:118801800-118809000	Weak transcription	Gastric	stomach
49	chr12:118801800-118809000	Weak transcription	Left Ventricle	heart
50	chr12:118802200-118803200	Enhancers	Primary neutrophils fromperipheralblood	blood

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