Variant report

Variant	rs7560482
Chromosome Location	chr2:128636878-128636879
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128613359..128615794-chr2:128635283..128639521,3	K562	blood:
2	chr2:128635469..128637916-chr2:128640003..128642247,2	MCF-7	breast:
3	chr2:128629948..128633748-chr2:128634277..128636882,4	K562	blood:
4	chr2:128636600..128638676-chr2:128639630..128643506,4	MCF-7	breast:
5	chr2:128613232..128619582-chr2:128635761..128644297,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144233	Chromatin interaction
ENSG00000144231	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10171898	0.81[ASN][1000 genomes]
rs10210695	0.81[ASN][1000 genomes]
rs11557685	0.81[ASN][1000 genomes]
rs11674513	0.81[ASN][1000 genomes]
rs11678032	0.81[ASN][1000 genomes]
rs11692524	0.81[ASN][1000 genomes]
rs11693759	0.81[ASN][1000 genomes]
rs13397060	0.80[CEU][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13421835	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13423029	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17418125	0.81[ASN][1000 genomes]
rs17534053	0.81[ASN][1000 genomes]
rs17534123	0.81[ASN][1000 genomes]
rs17599575	0.81[ASN][1000 genomes]
rs17600177	0.81[ASN][1000 genomes]
rs3771291	0.81[ASN][1000 genomes]
rs56954978	0.81[ASN][1000 genomes]
rs57498556	0.81[ASN][1000 genomes]
rs57913162	0.81[ASN][1000 genomes]
rs57986825	0.81[ASN][1000 genomes]
rs58080260	0.81[ASN][1000 genomes]
rs59009188	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs59090605	0.81[ASN][1000 genomes]
rs59727076	0.81[ASN][1000 genomes]
rs59918187	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60087786	0.81[ASN][1000 genomes]
rs61187878	0.81[ASN][1000 genomes]
rs61730415	0.81[ASN][1000 genomes]
rs6714620	0.81[ASN][1000 genomes]
rs6734925	0.81[ASN][1000 genomes]
rs6756507	0.81[ASN][1000 genomes]
rs72963794	0.81[ASN][1000 genomes]
rs7574303	0.80[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575961	0.81[ASN][1000 genomes]
rs7585200	0.81[ASN][1000 genomes]
rs7591477	0.81[ASN][1000 genomes]
rs7605158	0.81[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	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	nsv834367	chr2:128630791-128790072	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7560482	WDR33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128616200-128641400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:128622800-128638600	Weak transcription	Hela-S3	cervix
3	chr2:128622800-128642200	Weak transcription	Small Intestine	intestine
4	chr2:128624600-128641600	Weak transcription	Stomach Mucosa	stomach
5	chr2:128625000-128641400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:128627200-128638200	Weak transcription	Fetal Heart	heart
7	chr2:128628600-128637800	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:128628600-128642000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:128629000-128638000	Weak transcription	Fetal Brain Male	brain
10	chr2:128629400-128641400	Weak transcription	Fetal Kidney	kidney
11	chr2:128630400-128641000	Strong transcription	Fetal Intestine Small	intestine
12	chr2:128631000-128637200	Weak transcription	NH-A	brain
13	chr2:128631600-128637400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:128631600-128637400	Weak transcription	HSMM	muscle
15	chr2:128631600-128637600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:128631600-128637800	Weak transcription	Colonic Mucosa	Colon
17	chr2:128631600-128641600	Weak transcription	Brain Substantia Nigra	brain
18	chr2:128631800-128637000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:128631800-128637000	Weak transcription	Brain Germinal Matrix	brain
20	chr2:128631800-128637000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:128631800-128637400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:128631800-128637400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:128631800-128637400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:128631800-128637400	Weak transcription	HUVEC	blood vessel
25	chr2:128631800-128637600	Weak transcription	Fetal Lung	lung
26	chr2:128631800-128637800	Weak transcription	Primary B cells from cord blood	blood
27	chr2:128631800-128637800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:128631800-128638000	Weak transcription	Gastric	stomach
29	chr2:128631800-128638000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:128631800-128638000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:128631800-128638000	Weak transcription	Spleen	Spleen
32	chr2:128631800-128638200	Weak transcription	Brain Angular Gyrus	brain
33	chr2:128631800-128639000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:128631800-128639200	Weak transcription	NHDF-Ad	bronchial
35	chr2:128631800-128641600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:128631800-128641600	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:128631800-128642000	Weak transcription	Esophagus	oesophagus
38	chr2:128631800-128642000	Weak transcription	Ovary	ovary
39	chr2:128631800-128642000	Weak transcription	Pancreas	Pancrea
40	chr2:128632000-128638000	Weak transcription	Fetal Brain Female	brain
41	chr2:128632000-128638000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:128632000-128638400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:128632200-128642400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:128632400-128641800	Weak transcription	Aorta	Aorta
45	chr2:128632600-128637400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:128632600-128641400	Weak transcription	HSMMtube	muscle
47	chr2:128632600-128641800	Weak transcription	Psoas Muscle	Psoas
48	chr2:128632800-128637000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:128632800-128637400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:128632800-128638000	Weak transcription	Right Ventricle	heart

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