Variant report

Variant	rs10914002
Chromosome Location	chr1:180431938-180431939
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180431427..180433581-chr1:180456543..180458150,2	MCF-7	breast:

Extended variants
information (count: 153 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs10158367	0.82[ASN][1000 genomes]
rs10494527	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs10737342	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10753209	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs10753211	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs10753212	0.83[ASN][1000 genomes]
rs10798745	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs10798746	0.90[CHB][hapmap]
rs10798752	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798753	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798754	0.99[ASN][1000 genomes]
rs10798756	0.82[ASN][1000 genomes]
rs10798757	0.82[ASN][1000 genomes]
rs10798759	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs10798760	0.81[ASN][1000 genomes]
rs10798761	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798762	0.90[CHB][hapmap]
rs10798766	0.81[ASN][1000 genomes]
rs10798767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798769	0.82[CHB][hapmap]
rs10798770	0.80[ASN][1000 genomes]
rs10798771	0.81[ASN][1000 genomes]
rs10913969	0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs10913970	0.87[ASN][1000 genomes]
rs10913974	0.82[ASN][1000 genomes]
rs10913976	0.82[ASN][1000 genomes]
rs10913978	0.82[ASN][1000 genomes]
rs10913980	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs10913981	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs10913982	0.82[ASN][1000 genomes]
rs10913983	0.82[ASN][1000 genomes]
rs10913984	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs10913985	0.90[CHB][hapmap]
rs10913986	0.82[ASN][1000 genomes]
rs10913987	0.82[ASN][1000 genomes]
rs10913994	0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10913998	0.82[ASN][1000 genomes]
rs10914001	0.83[ASN][1000 genomes]
rs10914005	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs10914007	0.88[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10914010	0.81[ASN][1000 genomes]
rs10914014	0.82[ASN][1000 genomes]
rs10914017	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs10914018	0.86[CHB][hapmap]
rs10914023	0.81[JPT][hapmap]
rs11580793	0.90[CHB][hapmap]
rs12024156	0.85[ASN][1000 genomes]
rs12034217	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs12034669	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12039331	0.81[JPT][hapmap]
rs12039933	0.90[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs12045123	0.93[ASN][1000 genomes]
rs12045636	0.94[ASN][1000 genomes]
rs12085808	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12091722	0.90[CHB][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12121043	0.80[ASN][1000 genomes]
rs12122338	0.80[ASN][1000 genomes]
rs12127886	0.83[ASN][1000 genomes]
rs12128560	0.80[ASN][1000 genomes]
rs12129511	0.81[ASN][1000 genomes]
rs12129784	0.82[ASN][1000 genomes]
rs12131071	0.83[ASN][1000 genomes]
rs12132837	0.82[ASN][1000 genomes]
rs12135463	0.83[ASN][1000 genomes]
rs12141348	0.81[ASN][1000 genomes]
rs12141848	0.81[ASN][1000 genomes]
rs12142124	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402815	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12403665	0.91[ASN][1000 genomes]
rs12404209	0.90[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs12405902	0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12407122	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12565492	0.86[CHB][hapmap]
rs12691484	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12730889	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs1341924	0.90[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.84[YRI][hapmap];0.91[ASN][1000 genomes]
rs1416821	0.81[ASN][1000 genomes]
rs1418102	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1538620	0.90[CHB][hapmap]
rs1890731	0.84[ASN][1000 genomes]
rs1925339	0.90[CHB][hapmap]
rs2105232	0.80[ASN][1000 genomes]
rs2296378	0.90[CHB][hapmap]
rs2794962	0.85[CHB][hapmap]
rs2794978	0.88[EUR][1000 genomes]
rs28506072	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2877399	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2877415	0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs3737584	0.90[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.88[LWK][hapmap];0.94[MKK][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs3806300	0.85[CHB][hapmap];0.80[CHD][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs3923222	0.80[ASN][1000 genomes]
rs4058058	0.90[CHB][hapmap]
rs4076403	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs4142992	0.83[ASN][1000 genomes]
rs4418555	0.82[ASN][1000 genomes]
rs4420052	0.82[ASN][1000 genomes]
rs4421553	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs4424469	0.88[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4436345	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4442335	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs4483365	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4543756	0.90[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs4562579	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4578179	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs4593778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4607831	0.83[ASN][1000 genomes]
rs4634864	0.82[ASN][1000 genomes]
rs4642852	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4651064	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs4652493	0.85[CHB][hapmap]
rs4652495	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4652496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4652498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4652499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4652505	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs55874160	0.99[ASN][1000 genomes]
rs60286873	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6425625	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6425634	0.90[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs6657492	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6658310	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6659513	0.99[ASN][1000 genomes]
rs6661208	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6665719	0.90[CHB][hapmap]
rs6670544	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs6674244	0.83[ASN][1000 genomes]
rs6678216	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6680368	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6697924	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs6700986	0.83[ASN][1000 genomes]
rs72720915	0.84[ASN][1000 genomes]
rs72720917	0.84[ASN][1000 genomes]
rs7523857	0.83[ASN][1000 genomes]
rs7526189	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7528650	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs7532806	0.88[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs7538219	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7538303	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7539910	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7544585	0.99[ASN][1000 genomes]
rs822706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9425497	0.88[EUR][1000 genomes]
rs9425878	0.84[EUR][1000 genomes]
rs9425880	0.88[EUR][1000 genomes]
rs9701037	0.85[ASN][1000 genomes]
rs9729819	0.94[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	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv527918	chr1:180279710-180443808	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013716	chr1:180287338-180477072	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	nsv535221	chr1:180287338-180477072	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
6	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers 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	40 gene(s)	inside rSNPs	diseases
7	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10914002	RNASEL	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180392600-180446200	Weak transcription	K562	blood
2	chr1:180403400-180448000	Weak transcription	HMEC	breast
3	chr1:180404400-180469000	Weak transcription	Pancreas	Pancrea
4	chr1:180421000-180448000	Weak transcription	HSMM	muscle
5	chr1:180421200-180451600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:180425800-180457600	Weak transcription	Aorta	Aorta
7	chr1:180427400-180448200	Weak transcription	Osteobl	bone
8	chr1:180428000-180470000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:180428600-180438000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:180429400-180435200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:180429600-180444600	Weak transcription	Esophagus	oesophagus
12	chr1:180429600-180455000	Weak transcription	Left Ventricle	heart
13	chr1:180430200-180432600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:180430200-180454600	Weak transcription	Thymus	Thymus
15	chr1:180430400-180432000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:180430600-180432200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:180431000-180432000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
18	chr1:180431000-180432000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr1:180431000-180432200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:180431200-180432000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
21	chr1:180431200-180432000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:180431200-180432400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr1:180431200-180432800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:180431200-180435200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr1:180431200-180470200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:180431400-180432000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:180431400-180432200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
28	chr1:180431400-180432800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
29	chr1:180431400-180447800	Weak transcription	Fetal Stomach	stomach
30	chr1:180431400-180448200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:180431600-180432000	ZNF genes & repeats	Dnd41	blood
32	chr1:180431800-180432000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:180431800-180432000	ZNF genes & repeats	A549	lung

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