Variant report

Variant	rs2433350
Chromosome Location	chr15:44801010-44801011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10152710	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10162700	0.92[JPT][hapmap]
rs1021800	1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs10467977	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12324194	0.80[ASN][1000 genomes]
rs12324710	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap]
rs12591178	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12591581	0.94[EUR][1000 genomes]
rs12591811	0.94[EUR][1000 genomes]
rs12591898	1.00[CHB][hapmap]
rs12592995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12593125	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12593325	0.94[EUR][1000 genomes]
rs12593686	0.94[EUR][1000 genomes]
rs12593943	0.94[EUR][1000 genomes]
rs12594110	1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs12594139	0.94[EUR][1000 genomes]
rs12594167	0.87[ASW][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs12594463	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[MEX][hapmap]
rs12594621	0.94[EUR][1000 genomes]
rs12594645	0.94[EUR][1000 genomes]
rs12594746	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12594905	1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];0.90[YRI][hapmap];0.80[ASN][1000 genomes]
rs12594910	0.80[ASN][1000 genomes]
rs12595484	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs12595838	0.80[CHD][hapmap];0.92[JPT][hapmap]
rs17551416	0.94[EUR][1000 genomes]
rs2055061	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2288341	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs2288342	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2303577	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs2303578	0.87[EUR][1000 genomes]
rs2412883	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2412908	1.00[MEX][hapmap]
rs2412909	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2555353	0.87[ASW][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2556562	0.92[ASN][1000 genomes]
rs2556566	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2556567	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28508235	0.94[EUR][1000 genomes]
rs28561508	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2899113	0.94[EUR][1000 genomes]
rs35555389	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3784565	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3784567	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3809471	0.87[ASW][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs3816928	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3986142	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3986143	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4415978	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4477677	0.87[ASW][hapmap];1.00[CEU][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs4577056	0.87[ASW][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs57270586	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58956090	1.00[EUR][1000 genomes]
rs59230801	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59997416	0.94[EUR][1000 genomes]
rs60003667	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60399672	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61185650	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61234123	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61258861	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61278540	0.94[EUR][1000 genomes]
rs61329003	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61501839	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493103	0.82[EUR][1000 genomes]
rs7162671	0.92[JPT][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]
rs7162802	0.94[EUR][1000 genomes]
rs7163287	0.88[ASN][1000 genomes]
rs7163529	0.94[EUR][1000 genomes]
rs7164709	1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[EUR][1000 genomes]
rs7166278	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7166945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7167752	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs7167870	0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7169333	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7170248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7172106	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7175200	0.94[EUR][1000 genomes]
rs7178318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7179390	1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap];0.80[ASN][1000 genomes]
rs7179894	0.94[EUR][1000 genomes]
rs7181772	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7183109	0.89[EUR][1000 genomes]
rs73417597	0.80[ASN][1000 genomes]
rs8023453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8024623	0.94[EUR][1000 genomes]
rs8024805	0.94[EUR][1000 genomes]
rs8025727	0.94[EUR][1000 genomes]
rs8025876	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8025955	0.94[EUR][1000 genomes]
rs8026945	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8027036	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8028509	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8028907	0.82[EUR][1000 genomes]
rs8032079	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[EUR][1000 genomes]
rs8037395	0.82[EUR][1000 genomes]
rs883943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9672237	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9673085	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9806511	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs9806725	0.84[EUR][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	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv904177	chr15:44582886-44821843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv904179	chr15:44614684-44821843	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
7	nsv904180	chr15:44783700-44820054	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv569301	chr15:44797575-44814968	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2433350	EIF3J	cis	lymphoblastoid	seeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44721000-44828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:44740600-44824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:44750000-44827400	Weak transcription	Pancreas	Pancrea
4	chr15:44750200-44828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:44754600-44816200	Weak transcription	Brain Angular Gyrus	brain
6	chr15:44757000-44827400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr15:44775800-44820200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:44776200-44801400	Strong transcription	Dnd41	blood
9	chr15:44777200-44803800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:44777600-44801800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:44778000-44827800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr15:44778000-44827800	Weak transcription	Psoas Muscle	Psoas
13	chr15:44779800-44813600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr15:44779800-44824200	Weak transcription	Gastric	stomach
15	chr15:44779800-44827800	Weak transcription	Aorta	Aorta
16	chr15:44783200-44819400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr15:44783200-44827800	Weak transcription	NHLF	lung
18	chr15:44783600-44828000	Weak transcription	HSMMtube	muscle
19	chr15:44783800-44816400	Weak transcription	HMEC	breast
20	chr15:44785800-44804800	Weak transcription	Fetal Heart	heart
21	chr15:44790400-44827200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr15:44790800-44807000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr15:44790800-44813600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:44790800-44827800	Weak transcription	Small Intestine	intestine
25	chr15:44791000-44812000	Weak transcription	Colonic Mucosa	Colon
26	chr15:44791000-44818600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr15:44791400-44803000	Weak transcription	Fetal Brain Male	brain
28	chr15:44791800-44826800	Weak transcription	Brain Germinal Matrix	brain
29	chr15:44794600-44801200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:44794600-44804200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:44795000-44820400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr15:44795200-44801200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:44795200-44820200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr15:44795400-44801600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:44795400-44802600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:44795400-44804600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:44795400-44809200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr15:44795600-44801600	Strong transcription	Fetal Intestine Large	intestine
39	chr15:44795600-44801800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:44795600-44801800	Strong transcription	Placenta	Placenta
41	chr15:44795600-44802400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr15:44795600-44802800	Strong transcription	Fetal Stomach	stomach
43	chr15:44795600-44804000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr15:44795600-44804000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr15:44795600-44804400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr15:44795600-44804400	Strong transcription	Fetal Muscle Leg	muscle
47	chr15:44795600-44804400	Strong transcription	Fetal Thymus	thymus
48	chr15:44795800-44802200	Weak transcription	Fetal Kidney	kidney
49	chr15:44795800-44804400	Strong transcription	Primary T cells from cord blood	blood
50	chr15:44796000-44802800	Strong transcription	Fetal Intestine Small	intestine

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