Variant report

Variant	rs11264367
Chromosome Location	chr1:155337338-155337339
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	chr1:155332612..155335852-chr1:155337057..155340155,3	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10752611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10796943	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10796945	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs10796946	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10908463	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs10908465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10908466	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10908467	0.86[EUR][1000 genomes]
rs10908469	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10908470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11264359	0.84[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs11264361	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs11264362	0.92[ASN][1000 genomes]
rs11264363	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11264365	0.83[EUR][1000 genomes]
rs11264366	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11264369	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11264370	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11264371	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11264372	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs11264374	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11264375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs11264380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11264381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12021631	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12024696	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12025532	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12026638	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12028416	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12037824	0.84[AFR][1000 genomes]
rs12041534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12046473	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12049455	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12067371	0.87[EUR][1000 genomes]
rs12079134	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs12081067	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12131079	0.95[ASN][1000 genomes]
rs12143948	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12239100	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12239114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12724079	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12746592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1325908	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1360554	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1886905	0.96[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2025669	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2297480	0.88[CEU][hapmap];0.89[CHB][hapmap]
rs35615695	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4492610	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs5005770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56675301	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6677385	0.84[EUR][1000 genomes]
rs6684889	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs6688636	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6692183	0.83[EUR][1000 genomes]
rs66923802	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6696888	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs71517782	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7416976	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7556102	0.85[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
4	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv1795478	chr1:155334933-155510824	Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv1803551	chr1:155334933-155522572	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11264367	FDPS	Cis_1M	lymphoblastoid	RTeQTL
rs11264367	PKLR	cis	Nerve Tibial	GTEx
rs11264367	GBA	cis	Esophagus Mucosa	GTEx
rs11264367	RIT1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155296200-155349400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:155296600-155348200	Strong transcription	Fetal Stomach	stomach
3	chr1:155297800-155357400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:155299600-155341200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr1:155299600-155353600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:155302400-155341200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:155303000-155341200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:155303000-155352800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:155303200-155341000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:155306000-155348200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:155306200-155341200	Strong transcription	Liver	Liver
12	chr1:155306200-155375400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:155310000-155347800	Strong transcription	Fetal Intestine Small	intestine
14	chr1:155312400-155407400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:155313000-155348400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:155317600-155344000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:155317800-155339800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:155317800-155340000	Weak transcription	Fetal Heart	heart
19	chr1:155318400-155340000	Weak transcription	Fetal Brain Male	brain
20	chr1:155322400-155339800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:155323400-155339800	Weak transcription	Small Intestine	intestine
22	chr1:155323800-155349400	Strong transcription	Fetal Thymus	thymus
23	chr1:155324000-155339800	Weak transcription	HUVEC	blood vessel
24	chr1:155324600-155338000	Weak transcription	HMEC	breast
25	chr1:155324600-155339000	Weak transcription	Fetal Kidney	kidney
26	chr1:155325400-155339400	Weak transcription	HSMM	muscle
27	chr1:155325600-155344400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:155325800-155340000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:155327600-155338600	Weak transcription	Hela-S3	cervix
30	chr1:155327600-155339800	Weak transcription	K562	blood
31	chr1:155327800-155339400	Weak transcription	NHDF-Ad	bronchial
32	chr1:155327800-155347200	Weak transcription	Psoas Muscle	Psoas
33	chr1:155328000-155337400	Weak transcription	NH-A	brain
34	chr1:155329400-155339400	Weak transcription	Colonic Mucosa	Colon
35	chr1:155329800-155338000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:155330000-155339600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:155330000-155339600	Weak transcription	Gastric	stomach
38	chr1:155330000-155339800	Weak transcription	Esophagus	oesophagus
39	chr1:155330000-155339800	Weak transcription	Ovary	ovary
40	chr1:155330000-155339800	Weak transcription	Pancreas	Pancrea
41	chr1:155330000-155340000	Weak transcription	Brain Substantia Nigra	brain
42	chr1:155330000-155340000	Weak transcription	Right Ventricle	heart
43	chr1:155330000-155340200	Weak transcription	NHLF	lung
44	chr1:155330000-155349000	Weak transcription	Aorta	Aorta
45	chr1:155330200-155337400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:155330200-155338000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:155330200-155338000	Weak transcription	Brain Anterior Caudate	brain
48	chr1:155330200-155338000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:155330200-155338400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:155330200-155338600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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