Variant report

Variant	rs6753288
Chromosome Location	chr2:128169899-128169900
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128167645..128171047-chr2:128172725..128175521,4	MCF-7	breast:
2	chr2:128143915..128146812-chr2:128169537..128172278,4	K562	blood:
3	chr2:128143825..128149210-chr2:128164212..128171253,11	K562	blood:
4	chr2:128165398..128167231-chr2:128168499..128171120,3	MCF-7	breast:
5	chr2:128142687..128147811-chr2:128164209..128172701,12	MCF-7	breast:
6	chr2:128164669..128167933-chr2:128169756..128171725,4	MCF-7	breast:
7	chr2:128143738..128146610-chr2:128169844..128172222,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169967	Chromatin interaction
ENSG00000236682	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1128974	0.81[CHD][hapmap]
rs1158867	0.83[CEU][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11683986	0.87[MEX][hapmap]
rs13429050	0.88[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs13431911	0.88[CHD][hapmap];0.88[JPT][hapmap]
rs1799809	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1799810	0.82[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2069901	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2069904	0.81[MEX][hapmap]
rs2271026	0.81[CHD][hapmap]
rs3732209	0.81[MEX][hapmap]
rs3755310	0.81[ASN][1000 genomes]
rs4150448	0.81[CHD][hapmap]
rs4150487	0.81[CHD][hapmap]
rs4150512	0.81[CHD][hapmap]
rs4536600	0.80[CEU][hapmap];0.88[CHD][hapmap];0.87[MEX][hapmap]
rs4662726	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55826634	0.80[ASN][1000 genomes]
rs5937	0.86[MEX][hapmap]
rs61185143	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6755028	0.87[MEX][hapmap]
rs7590030	0.81[MEX][hapmap]
rs7599210	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs878461	0.92[CHD][hapmap];0.81[ASN][1000 genomes]
rs908787	0.81[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6753288	MAP3K2	cis	multi-tissue	Pritchard
rs6753288	ERCC3	cis	parietal	SCAN
rs6753288	ERCC3	cis	cerebellum	SCAN
rs6753288	MAP3K2	cis	lymphoblastoid	seeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128166200-128171400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:128166200-128173400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:128166400-128172400	Weak transcription	Gastric	stomach
4	chr2:128166400-128172600	Weak transcription	Dnd41	blood
5	chr2:128166400-128173200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:128166400-128173400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:128166400-128173400	Weak transcription	Esophagus	oesophagus
8	chr2:128166400-128173400	Weak transcription	Ovary	ovary
9	chr2:128166600-128171200	Weak transcription	Stomach Mucosa	stomach
10	chr2:128166600-128171800	Weak transcription	Pancreas	Pancrea
11	chr2:128166600-128172600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:128166600-128172600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:128166600-128173000	Weak transcription	Small Intestine	intestine
14	chr2:128166600-128173200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:128166600-128173200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:128166600-128173400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:128166800-128171200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:128166800-128172200	Enhancers	HepG2	liver
19	chr2:128166800-128172400	Weak transcription	Lung	lung
20	chr2:128166800-128173000	Weak transcription	Fetal Intestine Large	intestine
21	chr2:128166800-128173200	Weak transcription	Colonic Mucosa	Colon
22	chr2:128166800-128173400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:128167400-128173400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:128167600-128170200	Enhancers	Liver	Liver
25	chr2:128167800-128170000	Enhancers	Fetal Muscle Leg	muscle
26	chr2:128168000-128173400	Weak transcription	Right Atrium	heart
27	chr2:128168200-128170000	Enhancers	Brain Anterior Caudate	brain
28	chr2:128168200-128170000	Flanking Active TSS	Hela-S3	cervix
29	chr2:128168200-128170000	Enhancers	HMEC	breast
30	chr2:128168200-128170200	Enhancers	Primary B cells from peripheral blood	blood
31	chr2:128168200-128170200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr2:128168200-128171800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:128168400-128170200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:128168400-128170200	Flanking Active TSS	A549	lung
35	chr2:128168400-128170400	Enhancers	HSMM	muscle
36	chr2:128168800-128170200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr2:128168800-128171400	Weak transcription	K562	blood
38	chr2:128169000-128170000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr2:128169000-128170000	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr2:128169000-128170000	Enhancers	Aorta	Aorta
41	chr2:128169000-128170000	Enhancers	Placenta	Placenta
42	chr2:128169000-128173200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr2:128169000-128173200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:128169000-128173400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:128169200-128170000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr2:128169200-128170000	Enhancers	Osteobl	bone
47	chr2:128169200-128170200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:128169200-128170200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr2:128169200-128172200	Enhancers	HUVEC	blood vessel
50	chr2:128169200-128172600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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