Variant report

Variant	rs7233814
Chromosome Location	chr18:13000736-13000737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12988481..12994468-chr18:12998354..13003992,8	MCF-7	breast:
2	chr18:12948045..12950720-chr18:13000084..13003175,3	K562	blood:
3	chr18:12996926..12999710-chr18:13000576..13003531,2	K562	blood:

Variant related genes	Relation type
ENSG00000266969	Chromatin interaction
ENSG00000085415	Chromatin interaction
ENSG00000101639	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 12 )

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

rs_ID	r²[population]
rs10221326	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10221384	0.85[EUR][1000 genomes]
rs11080620	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11663049	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12605638	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12954256	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12955780	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1474043	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1786263	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1786270	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1786279	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1787000	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1787003	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1787004	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1787008	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1973779	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28619103	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28641764	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2902856	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35790309	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3809912	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs472702	0.84[EUR][1000 genomes]
rs472992	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs473580	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs474337	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs475139	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs478006	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs478399	0.84[EUR][1000 genomes]
rs482360	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs482577	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs490853	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs491349	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs492723	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs498685	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4995995	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs518145	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs527839	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs529620	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs547084	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs554719	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs554854	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs556371	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs556536	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs557846	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs562151	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs565832	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs567031	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs569453	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs576963	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs578208	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6505775	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6505776	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6505777	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6505780	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs692833	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs692964	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71353243	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7226616	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7229870	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7233600	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7234094	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7234960	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7236162	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7236764	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7237236	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7243660	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8088313	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8089123	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8097038	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8097125	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9783859	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9783903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9948139	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9948681	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9949589	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9951698	0.85[AMR][1000 genomes]
rs9952698	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9958369	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9961669	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9964466	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1062413	chr18:12988947-13039941	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv543657	chr18:12988947-13039941	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs7233814	CEP192	cis	Esophagus Muscularis	GTEx
rs7233814	CEP192	cis	Nerve Tibial	GTEx
rs7233814	CEP192	cis	lung	GTEx
rs7233814	CEP192	cis	Artery Tibial	GTEx
rs7233814	CEP192	Cis_1M	lymphoblastoid	RTeQTL
rs7233814	CEP192	cis	Stomach	GTEx
rs7233814	CEP192	cis	Skin Sun Exposed Lower leg	GTEx
rs7233814	CEP192	cis	Thyroid	GTEx
rs7233814	CEP192	cis	Esophagus Mucosa	GTEx
rs7233814	CEP192	cis	Adipose Subcutaneous	GTEx
rs7233814	CEP192	cis	Artery Aorta	GTEx
rs7233814	CEP192	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12992000-13004400	Weak transcription	Esophagus	oesophagus
2	chr18:12992200-13004800	Weak transcription	Aorta	Aorta
3	chr18:12992400-13004400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr18:12992600-13031200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr18:12992800-13004000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr18:12992800-13008800	Weak transcription	Colonic Mucosa	Colon
7	chr18:12992800-13009200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr18:12992800-13013200	Weak transcription	Fetal Kidney	kidney
9	chr18:12992800-13016000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr18:12993000-13001400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr18:12993000-13006400	Weak transcription	Fetal Brain Female	brain
12	chr18:12993000-13023800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr18:12993200-13001000	Weak transcription	Fetal Intestine Large	intestine
14	chr18:12993200-13001200	Weak transcription	A549	lung
15	chr18:12993200-13004400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr18:12993200-13004800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr18:12993200-13006800	Weak transcription	HSMMtube	muscle
18	chr18:12993200-13007000	Weak transcription	Brain Substantia Nigra	brain
19	chr18:12993200-13008400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr18:12993200-13008400	Weak transcription	Osteobl	bone
21	chr18:12993200-13008800	Weak transcription	NHLF	lung
22	chr18:12993400-13000800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr18:12993400-13003000	Weak transcription	Fetal Muscle Leg	muscle
24	chr18:12993400-13003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr18:12993400-13006200	Weak transcription	NH-A	brain
26	chr18:12993400-13006600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr18:12993400-13008200	Weak transcription	Brain Angular Gyrus	brain
28	chr18:12993400-13017800	Weak transcription	Stomach Mucosa	stomach
29	chr18:12993600-13001800	Weak transcription	Brain Germinal Matrix	brain
30	chr18:12993600-13003600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr18:12993600-13011800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr18:12993600-13011800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr18:12993800-13001600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:12993800-13002800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr18:12993800-13003600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr18:12993800-13004000	Weak transcription	NHEK	skin
37	chr18:12993800-13005000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr18:12993800-13008400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr18:12993800-13008400	Weak transcription	Psoas Muscle	Psoas
40	chr18:12993800-13008400	Weak transcription	HMEC	breast
41	chr18:12993800-13008800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr18:12993800-13009200	Weak transcription	NHDF-Ad	bronchial
43	chr18:12994000-13006000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr18:12994800-13001400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr18:12995000-13011400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr18:12995200-13042000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:12996600-13003600	Weak transcription	Fetal Intestine Small	intestine
48	chr18:12996800-13004800	Weak transcription	Spleen	Spleen
49	chr18:12997000-13004400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr18:12997000-13004400	Weak transcription	Gastric	stomach

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