Variant report

Variant	rs7230391
Chromosome Location	chr18:13010016-13010017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13009187..13011605-chr18:13016095..13017651,2	MCF-7	breast:
2	chr18:12991897..12993724-chr18:13008945..13010565,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10163827	0.93[ASN][1000 genomes]
rs11080617	0.97[ASN][1000 genomes]
rs11080618	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11661322	0.86[EUR][1000 genomes]
rs11661908	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11662634	0.93[ASN][1000 genomes]
rs11664213	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11664469	0.97[ASN][1000 genomes]
rs12605267	0.97[ASN][1000 genomes]
rs12607398	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12607919	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12953783	0.91[ASN][1000 genomes]
rs12957380	0.89[ASN][1000 genomes]
rs12960349	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12961596	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12963426	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12970503	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12971069	0.85[AMR][1000 genomes]
rs13381779	0.93[ASN][1000 genomes]
rs1523064	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17603207	0.91[ASN][1000 genomes]
rs17659689	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17659749	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17659896	0.99[ASN][1000 genomes]
rs2015763	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2282540	0.89[ASN][1000 genomes]
rs2282541	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28551661	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28654613	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34166083	0.95[ASN][1000 genomes]
rs34302481	0.99[ASN][1000 genomes]
rs35368962	0.95[ASN][1000 genomes]
rs35563947	0.99[ASN][1000 genomes]
rs3809914	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3976787	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4499304	0.86[EUR][1000 genomes]
rs56263236	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58871601	0.88[EUR][1000 genomes]
rs68004799	0.95[ASN][1000 genomes]
rs7228684	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7229869	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7230435	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7234163	0.86[EUR][1000 genomes]
rs7234938	0.89[ASN][1000 genomes]
rs7236710	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7237711	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7239486	0.88[ASN][1000 genomes]
rs8083401	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8086882	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8089724	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8090667	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8092888	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8093236	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8093576	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8096860	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8566	0.95[ASN][1000 genomes]
rs9950241	0.84[EUR][1000 genomes];0.98[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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7230391	CEP192	Cis_1M	lymphoblastoid	RTeQTL
rs7230391	CEP192	cis	Nerve Tibial	GTEx
rs7230391	CEP192	cis	Adipose Subcutaneous	GTEx
rs7230391	CEP192	cis	Esophagus Muscularis	GTEx
rs7230391	CEP192	cis	lung	GTEx
rs7230391	CEP192	cis	Artery Tibial	GTEx
rs7230391	CEP192	cis	Whole Blood	GTEx
rs7230391	CEP192	cis	Esophagus Mucosa	GTEx
rs7230391	CEP192	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12992600-13031200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:12992800-13013200	Weak transcription	Fetal Kidney	kidney
3	chr18:12992800-13016000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr18:12993000-13023800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:12993400-13017800	Weak transcription	Stomach Mucosa	stomach
6	chr18:12993600-13011800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:12993600-13011800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr18:12995000-13011400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:12995200-13042000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:12997200-13011200	Weak transcription	Right Ventricle	heart
11	chr18:12997200-13013200	Weak transcription	Small Intestine	intestine
12	chr18:12997400-13015000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr18:12998400-13041600	Strong transcription	Dnd41	blood
14	chr18:12999000-13011800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr18:12999200-13039000	Strong transcription	Fetal Thymus	thymus
16	chr18:12999400-13020800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr18:12999400-13021800	Strong transcription	Primary T cells from cord blood	blood
18	chr18:12999600-13017200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr18:12999600-13018800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr18:13000200-13011200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:13000400-13034000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr18:13002800-13021200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr18:13003000-13011400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr18:13003200-13011200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr18:13003400-13016800	Strong transcription	Thymus	Thymus
26	chr18:13004000-13010800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr18:13004000-13012000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr18:13004000-13015000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr18:13004600-13018200	Strong transcription	GM12878-XiMat	blood
30	chr18:13004800-13024200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr18:13004800-13031800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr18:13005000-13039200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr18:13005400-13017400	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr18:13005400-13018600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr18:13005400-13018600	Strong transcription	Fetal Intestine Large	intestine
36	chr18:13005400-13033400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr18:13005600-13015800	Weak transcription	Esophagus	oesophagus
38	chr18:13005800-13011800	Weak transcription	Primary B cells from cord blood	blood
39	chr18:13005800-13012200	Weak transcription	Brain Germinal Matrix	brain
40	chr18:13005800-13013200	Weak transcription	Aorta	Aorta
41	chr18:13005800-13015600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr18:13006200-13010400	Strong transcription	NH-A	brain
43	chr18:13006400-13034400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr18:13006600-13018000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr18:13006800-13010400	Strong transcription	HUVEC	blood vessel
46	chr18:13006800-13014000	Strong transcription	HepG2	liver
47	chr18:13007200-13013400	Weak transcription	Fetal Heart	heart
48	chr18:13007200-13044000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr18:13007400-13012600	Weak transcription	Fetal Brain Male	brain
50	chr18:13007600-13014800	Weak transcription	Fetal Brain Female	brain

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