Variant report

Variant	rs12964717
Chromosome Location	chr18:12704961-12704962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12701252..12704007-chr18:12704390..12707416,3	K562	blood:
2	chr18:12701407..12705081-chr18:12945993..12949483,5	MCF-7	breast:
3	chr18:12700812..12705381-chr18:12946243..12950219,9	K562	blood:
4	chr18:12656018..12659900-chr18:12701056..12705601,5	K562	blood:

Variant related genes	Relation type
ENSG00000215527	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000085415	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000128789	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1105748	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12954350	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12954606	1.00[ASN][1000 genomes]
rs12955162	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12955176	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12956026	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12956686	1.00[ASN][1000 genomes]
rs12957011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12957283	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12958301	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12958598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12959199	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12961307	1.00[ASN][1000 genomes]
rs12961711	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12963149	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12965549	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12966082	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12966571	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12967250	1.00[ASN][1000 genomes]
rs12970939	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17525318	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17525459	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17525599	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17615525	1.00[ASN][1000 genomes]
rs17615801	1.00[ASN][1000 genomes]
rs17615991	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17616124	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34054541	1.00[ASN][1000 genomes]
rs34084006	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34088731	1.00[ASN][1000 genomes]
rs34180475	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34183067	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34229934	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34371240	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34460164	1.00[ASN][1000 genomes]
rs34503700	1.00[ASN][1000 genomes]
rs34737110	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34859829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34923819	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34933611	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35082337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35160505	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35190325	1.00[ASN][1000 genomes]
rs35280383	1.00[ASN][1000 genomes]
rs35309605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35612342	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35616981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35643117	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs35686128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35744165	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35815040	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35826479	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35864675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35939870	1.00[ASN][1000 genomes]
rs4510091	1.00[ASN][1000 genomes]
rs45541436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71351491	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71351492	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71351494	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71351495	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71351501	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71353221	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71353222	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71363149	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv1820040	chr18:12635601-12725236	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv1817845	chr18:12635601-12733705	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1821625	chr18:12635601-12733705	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	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
10	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
11	nsv1064273	chr18:12697601-12828251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12964717	CEP76	Cis_1M	lymphoblastoid	RTeQTL
rs12964717	SLMO1	cis	Artery Tibial	GTEx
rs12964717	SPIRE1	cis	Thyroid	GTEx
rs12964717	RP11-861E21.2	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12703400-12709000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:12703800-12705000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr18:12703800-12705000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr18:12703800-12705000	Flanking Active TSS	Hela-S3	cervix
5	chr18:12703800-12713200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:12704000-12705000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:12704000-12705000	Enhancers	Stomach Mucosa	stomach
8	chr18:12704000-12705400	Enhancers	Primary B cells from peripheral blood	blood
9	chr18:12704000-12705600	Enhancers	Spleen	Spleen
10	chr18:12704000-12706000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr18:12704000-12707400	Weak transcription	Lung	lung
12	chr18:12704200-12705000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr18:12704200-12705000	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr18:12704200-12705000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr18:12704200-12705000	Enhancers	Liver	Liver
16	chr18:12704200-12705000	Enhancers	Brain Anterior Caudate	brain
17	chr18:12704200-12705000	Enhancers	Brain Cingulate Gyrus	brain
18	chr18:12704200-12705000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr18:12704200-12705000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr18:12704200-12705000	Enhancers	Brain Substantia Nigra	brain
21	chr18:12704200-12705000	Enhancers	Colon Smooth Muscle	Colon
22	chr18:12704200-12705000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr18:12704200-12705000	Enhancers	Fetal Muscle Leg	muscle
24	chr18:12704200-12705000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr18:12704200-12705000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr18:12704200-12705000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr18:12704200-12705000	Enhancers	Small Intestine	intestine
28	chr18:12704200-12705000	Enhancers	NH-A	brain
29	chr18:12704200-12705200	Enhancers	Brain Angular Gyrus	brain
30	chr18:12704200-12705600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr18:12704200-12705600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr18:12704200-12705600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr18:12704200-12705800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr18:12704200-12706200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr18:12704200-12706200	Weak transcription	Fetal Intestine Large	intestine
36	chr18:12704200-12706400	Weak transcription	Ovary	ovary
37	chr18:12704200-12707200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr18:12704200-12707200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr18:12704200-12707600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr18:12704200-12707600	Weak transcription	Esophagus	oesophagus
41	chr18:12704200-12709600	Weak transcription	HSMMtube	muscle
42	chr18:12704200-12709800	Weak transcription	Right Ventricle	heart
43	chr18:12704200-12713000	Weak transcription	Aorta	Aorta
44	chr18:12704200-12713200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr18:12704200-12713200	Weak transcription	Psoas Muscle	Psoas
46	chr18:12704200-12726800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr18:12704400-12705000	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr18:12704400-12705000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr18:12704400-12705000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr18:12704400-12705000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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