Variant report

Variant	rs57498556
Chromosome Location	chr2:128518178-128518179
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128507392..128510233-chr2:128516119..128518493,3	K562	blood:
2	chr2:128508196..128511381-chr2:128515969..128518493,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10171898	1.00[ASN][1000 genomes]
rs10210695	1.00[ASN][1000 genomes]
rs11557685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674513	1.00[ASN][1000 genomes]
rs11678032	1.00[ASN][1000 genomes]
rs11682274	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11692524	1.00[ASN][1000 genomes]
rs11693223	0.85[AFR][1000 genomes]
rs11693759	1.00[ASN][1000 genomes]
rs13397060	0.81[ASN][1000 genomes]
rs13421835	0.81[ASN][1000 genomes]
rs13423029	0.81[ASN][1000 genomes]
rs17418125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17599575	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17600177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771291	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56954978	1.00[ASN][1000 genomes]
rs57410763	0.86[ASN][1000 genomes]
rs57913162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57986825	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58080260	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59009188	0.86[ASN][1000 genomes]
rs59090605	1.00[ASN][1000 genomes]
rs59727076	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59918187	0.81[ASN][1000 genomes]
rs60087786	1.00[ASN][1000 genomes]
rs61187878	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61730415	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714620	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734925	1.00[ASN][1000 genomes]
rs6756507	1.00[ASN][1000 genomes]
rs72963794	1.00[ASN][1000 genomes]
rs7560482	0.81[ASN][1000 genomes]
rs7574303	0.81[ASN][1000 genomes]
rs7575961	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585200	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605158	1.00[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	esv3368061	chr2:128375044-128672849	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv428726	chr2:128387756-128539894	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv1796560	chr2:128495645-128521448	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57498556	WDR33	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128460400-128520000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:128478000-128519200	Weak transcription	Small Intestine	intestine
3	chr2:128478800-128519400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:128479400-128560400	Weak transcription	Esophagus	oesophagus
5	chr2:128480200-128519200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:128480200-128519400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:128480200-128519400	Weak transcription	Brain Anterior Caudate	brain
8	chr2:128480200-128519600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:128480200-128519600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:128480200-128521400	Weak transcription	Spleen	Spleen
11	chr2:128480400-128519400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:128480400-128519800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:128480800-128520200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:128483400-128519200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:128492000-128519200	Weak transcription	Ovary	ovary
16	chr2:128492200-128519200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:128492200-128522200	Weak transcription	Aorta	Aorta
18	chr2:128493000-128519400	Weak transcription	HSMMtube	muscle
19	chr2:128493000-128526800	Weak transcription	Psoas Muscle	Psoas
20	chr2:128493000-128528000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:128494000-128519200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:128496200-128519200	Weak transcription	Fetal Kidney	kidney
23	chr2:128496600-128520600	Weak transcription	Brain Germinal Matrix	brain
24	chr2:128497200-128519000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:128498000-128519200	Weak transcription	Fetal Brain Male	brain
26	chr2:128498200-128562800	Weak transcription	Pancreas	Pancrea
27	chr2:128498400-128533800	Weak transcription	Right Ventricle	heart
28	chr2:128498800-128519200	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:128499000-128519200	Weak transcription	Brain Substantia Nigra	brain
30	chr2:128499200-128519200	Weak transcription	Colonic Mucosa	Colon
31	chr2:128499200-128519200	Weak transcription	Gastric	stomach
32	chr2:128499200-128519600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:128501400-128527400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:128503000-128519200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:128503000-128519400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:128503000-128519600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:128503000-128521200	Weak transcription	NHLF	lung
38	chr2:128503200-128519200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:128503200-128519600	Weak transcription	Hela-S3	cervix
40	chr2:128503400-128519400	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:128504200-128518800	Weak transcription	Left Ventricle	heart
42	chr2:128504400-128518600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:128504400-128521800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:128506200-128519200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:128506400-128519200	Weak transcription	Adipose Nuclei	Adipose
46	chr2:128506400-128519200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:128506400-128519200	Weak transcription	HMEC	breast
48	chr2:128506400-128519400	Weak transcription	Fetal Brain Female	brain
49	chr2:128507600-128542800	Weak transcription	Stomach Mucosa	stomach
50	chr2:128507800-128519200	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links