Variant report

Variant	rs1371053
Chromosome Location	chr12:30845705-30845706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr12:30845517-30845715	MCF10A-Er-Src	breast:	n/a	n/a
2	ZNF263	chr12:30845493-30845921	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30840570..30842757-chr12:30843253..30846337,3	K562	blood:
2	chr12:30845389..30848478-chr12:30907681..30910609,3	K562	blood:

Variant related genes	Relation type
IPO8	TF binding region
ENSG00000133704	Chromatin interaction
ENSG00000110888	Chromatin interaction
ENSG00000246331	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10219701	0.90[ASN][1000 genomes]
rs1054426	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10734790	0.90[ASN][1000 genomes]
rs10734791	0.86[ASN][1000 genomes]
rs10743724	0.86[ASN][1000 genomes]
rs10743726	0.90[ASN][1000 genomes]
rs10743727	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10743728	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10743733	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10743734	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10771747	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10771748	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10771750	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10771751	0.90[ASN][1000 genomes]
rs10771752	0.87[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs10771753	0.90[ASN][1000 genomes]
rs10771754	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10771755	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10771758	0.83[ASN][1000 genomes]
rs10771759	0.86[ASN][1000 genomes]
rs10771764	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10771769	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10843795	0.81[ASN][1000 genomes]
rs10843796	0.92[CHB][hapmap];0.85[JPT][hapmap];0.90[YRI][hapmap];0.87[ASN][1000 genomes]
rs10843799	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10843800	0.87[ASN][1000 genomes]
rs10843802	0.88[ASN][1000 genomes]
rs10843806	0.91[ASN][1000 genomes]
rs10843807	0.91[ASN][1000 genomes]
rs10843808	0.91[ASN][1000 genomes]
rs10843809	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10843810	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10843811	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10843812	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11051013	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051052	0.85[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11834524	0.87[ASN][1000 genomes]
rs12368765	0.83[ASN][1000 genomes]
rs12370429	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12579337	0.91[ASN][1000 genomes]
rs13656	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1371049	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs14139	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[ASN][1000 genomes]
rs1545175	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1866416	0.80[EUR][1000 genomes]
rs2043844	0.88[ASN][1000 genomes]
rs2043845	0.86[ASN][1000 genomes]
rs2043846	0.88[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2099661	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278558	0.95[JPT][hapmap]
rs2289300	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2289301	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2304626	0.91[ASN][1000 genomes]
rs2304630	0.92[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2352210	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2352217	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28661513	0.86[ASN][1000 genomes]
rs33132	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35059863	0.84[ASN][1000 genomes]
rs3782685	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3816169	0.91[ASN][1000 genomes]
rs3825307	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3850961	0.87[ASN][1000 genomes]
rs3862399	0.87[ASN][1000 genomes]
rs3862400	0.87[ASN][1000 genomes]
rs3898406	0.87[ASN][1000 genomes]
rs3910561	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3910562	0.90[ASN][1000 genomes]
rs3910563	0.90[ASN][1000 genomes]
rs3910564	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4082413	0.91[YRI][hapmap]
rs4143103	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4143104	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4143105	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4143106	0.87[ASN][1000 genomes]
rs4930935	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930936	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4931356	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60452057	0.90[ASN][1000 genomes]
rs6487923	0.87[ASN][1000 genomes]
rs6487925	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6487927	0.87[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6487930	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[ASN][1000 genomes]
rs6487932	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487933	0.92[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7132317	0.87[ASN][1000 genomes]
rs7136079	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs718368	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7296614	0.85[ASN][1000 genomes]
rs7297455	0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.85[ASN][1000 genomes]
rs7298007	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7298180	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7299444	0.87[ASN][1000 genomes]
rs7300234	0.90[ASN][1000 genomes]
rs7303626	0.90[ASN][1000 genomes]
rs7304879	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7304976	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7305853	0.90[ASN][1000 genomes]
rs7310816	0.82[ASN][1000 genomes]
rs7310838	0.83[ASN][1000 genomes]
rs7310875	0.85[ASN][1000 genomes]
rs7311215	0.87[ASN][1000 genomes]
rs7311651	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7313517	0.87[ASN][1000 genomes]
rs7315693	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7315932	0.91[ASN][1000 genomes]
rs7316477	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7316896	0.87[ASN][1000 genomes]
rs7325	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[ASN][1000 genomes]
rs7326	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[ASN][1000 genomes]
rs7327	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[ASN][1000 genomes]
rs794152	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7955420	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7955574	0.91[ASN][1000 genomes]
rs7963494	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7968343	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7968587	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7970643	0.87[ASN][1000 genomes]
rs7972532	0.87[ASN][1000 genomes]
rs7978343	0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7978936	0.91[ASN][1000 genomes]
rs8414	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[ASN][1000 genomes]
rs9300199	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1371053	IPO8	cis	Artery Tibial	GTEx
rs1371053	IPO8	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:30785000-30847800	Weak transcription	Gastric	stomach
3	chr12:30785200-30846400	Weak transcription	Spleen	Spleen
4	chr12:30785400-30847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:30815400-30845800	Weak transcription	Fetal Brain Male	brain
6	chr12:30821800-30847200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:30821800-30847400	Weak transcription	Lung	lung
8	chr12:30822000-30846600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:30822600-30846400	Weak transcription	Esophagus	oesophagus
10	chr12:30822600-30847400	Weak transcription	Aorta	Aorta
11	chr12:30827000-30847000	Weak transcription	Colonic Mucosa	Colon
12	chr12:30830400-30846600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:30831800-30846400	Weak transcription	Thymus	Thymus
14	chr12:30831800-30846600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:30831800-30846800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:30832200-30846800	Weak transcription	Fetal Stomach	stomach
17	chr12:30833600-30846600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr12:30833600-30847000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:30834800-30846400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:30834800-30847000	Weak transcription	Stomach Mucosa	stomach
21	chr12:30836600-30846400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:30837400-30846400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:30837400-30847000	Weak transcription	Fetal Thymus	thymus
24	chr12:30837600-30845800	Weak transcription	Fetal Brain Female	brain
25	chr12:30837600-30846400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:30837600-30846600	Weak transcription	Fetal Kidney	kidney
27	chr12:30837600-30847000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:30838200-30846400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:30838400-30847400	Weak transcription	Placenta	Placenta
30	chr12:30838600-30847400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:30838800-30846200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:30839400-30846000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:30839600-30846400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:30839600-30846400	Weak transcription	Fetal Intestine Large	intestine
35	chr12:30839600-30846600	Weak transcription	Fetal Intestine Small	intestine
36	chr12:30839600-30846800	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:30839600-30847000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:30840800-30847000	Weak transcription	Primary B cells from cord blood	blood
39	chr12:30843200-30846800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:30844000-30847000	Enhancers	NHEK	skin
41	chr12:30844200-30846800	Enhancers	Hela-S3	cervix
42	chr12:30844200-30847400	Enhancers	HUVEC	blood vessel
43	chr12:30844400-30846600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:30844400-30846800	Enhancers	HepG2	liver
45	chr12:30844600-30845800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr12:30844600-30846400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:30844600-30846400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:30844600-30846400	Weak transcription	K562	blood
49	chr12:30844600-30846600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr12:30844600-30846600	Weak transcription	Fetal Heart	heart

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