Variant report

Variant	rs2276144
Chromosome Location	chr18:29454781-29454782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29452756..29454913-chr18:29671972..29673873,2	MCF-7	breast:
2	chr18:29446087..29447957-chr18:29452902..29455366,2	K562	blood:

Variant related genes	Relation type
ENSG00000265008	Chromatin interaction
ENSG00000134758	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10468902	0.95[JPT][hapmap]
rs11081717	0.90[ASN][1000 genomes]
rs11081718	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs11081719	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11081720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11081722	0.93[ASN][1000 genomes]
rs11081723	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11081724	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11081729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11659244	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11660557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11661525	0.95[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11662341	0.95[JPT][hapmap]
rs11662697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11665424	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11877256	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs12326860	0.85[CEU][hapmap]
rs12604691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12605636	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12606354	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12606379	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12606882	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs12606962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12607786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12608051	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17741796	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17741967	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17742014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17742105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17804129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2276145	0.82[CEU][hapmap]
rs2291239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28654480	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34180462	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35275842	0.89[ASN][1000 genomes]
rs3737373	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3737374	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs3810001	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3925536	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4539674	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4545895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55706254	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56303347	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58098304	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs614342	0.95[JPT][hapmap]
rs62093860	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62093864	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62093866	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62093867	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62093868	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62093869	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62093873	0.92[ASN][1000 genomes]
rs62093900	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62093901	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62093903	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62095507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62095508	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62095509	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62095510	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62095543	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62095544	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62095545	0.91[ASN][1000 genomes]
rs62095546	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62095547	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62095548	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6506947	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7226615	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7226713	0.92[ASN][1000 genomes]
rs7228817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7231114	0.95[JPT][hapmap]
rs7233234	0.95[ASN][1000 genomes]
rs7234341	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7234798	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs7237879	0.96[ASN][1000 genomes]
rs7239629	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72930222	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8084869	0.95[JPT][hapmap]
rs930018	0.95[JPT][hapmap]
rs9635917	0.92[ASN][1000 genomes]
rs9966530	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv3382415	chr18:29454644-29454953	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29405600-29481800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
3	chr18:29408000-29460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:29408600-29471800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr18:29409000-29456600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:29409800-29466600	Weak transcription	Gastric	stomach
7	chr18:29413800-29456600	Weak transcription	Spleen	Spleen
8	chr18:29415800-29461800	Weak transcription	Fetal Heart	heart
9	chr18:29416200-29456600	Weak transcription	Aorta	Aorta
10	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:29418400-29454800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr18:29418400-29470400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:29418600-29456600	Weak transcription	Right Ventricle	heart
14	chr18:29418800-29454800	Weak transcription	Colonic Mucosa	Colon
15	chr18:29418800-29456600	Weak transcription	NHEK	skin
16	chr18:29419000-29460400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:29419000-29461800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr18:29419400-29458600	Weak transcription	NHLF	lung
19	chr18:29421800-29455400	Strong transcription	Liver	Liver
20	chr18:29422800-29455200	Weak transcription	Ovary	ovary
21	chr18:29425800-29456600	Weak transcription	Fetal Brain Female	brain
22	chr18:29431800-29461800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr18:29431800-29499000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr18:29431800-29512600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr18:29432200-29455400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr18:29432400-29454800	Weak transcription	Brain Angular Gyrus	brain
27	chr18:29432400-29455200	Weak transcription	Lung	lung
28	chr18:29432400-29461200	Weak transcription	Psoas Muscle	Psoas
29	chr18:29432400-29468200	Weak transcription	Small Intestine	intestine
30	chr18:29432400-29480000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr18:29432600-29481600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr18:29432600-29507600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr18:29432600-29521400	Weak transcription	Stomach Mucosa	stomach
34	chr18:29433200-29455400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr18:29433600-29454800	Weak transcription	Thymus	Thymus
36	chr18:29434000-29459000	Weak transcription	Hela-S3	cervix
37	chr18:29434000-29460800	Weak transcription	A549	lung
38	chr18:29435400-29458800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr18:29437800-29456600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr18:29438000-29455400	Weak transcription	HSMMtube	muscle
41	chr18:29438000-29456800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr18:29438200-29457800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr18:29438200-29458400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr18:29441200-29460400	Weak transcription	Brain Hippocampus Middle	brain
45	chr18:29443000-29455400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr18:29443000-29455400	Weak transcription	Pancreas	Pancrea
47	chr18:29443000-29456000	Strong transcription	HSMM	muscle
48	chr18:29443800-29456800	Weak transcription	Brain Germinal Matrix	brain
49	chr18:29444600-29455600	Strong transcription	HUVEC	blood vessel
50	chr18:29445000-29458200	Strong transcription	Fetal Intestine Large	intestine

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