Variant report

Variant	rs6795138
Chromosome Location	chr3:53008431-53008432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53004813..53006485-chr3:53007030..53009652,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10049313	1.00[EUR][1000 genomes]
rs1052728	1.00[EUR][1000 genomes]
rs12486028	1.00[EUR][1000 genomes]
rs13066997	1.00[EUR][1000 genomes]
rs1986738	1.00[EUR][1000 genomes]
rs1986739	1.00[EUR][1000 genomes]
rs1991567	1.00[EUR][1000 genomes]
rs2001733	1.00[EUR][1000 genomes]
rs2001734	1.00[EUR][1000 genomes]
rs2245536	1.00[EUR][1000 genomes]
rs2246888	1.00[EUR][1000 genomes]
rs2246889	1.00[EUR][1000 genomes]
rs2256728	1.00[EUR][1000 genomes]
rs2256734	1.00[EUR][1000 genomes]
rs2276814	1.00[EUR][1000 genomes]
rs2276819	1.00[EUR][1000 genomes]
rs2276821	1.00[EUR][1000 genomes]
rs2336155	1.00[EUR][1000 genomes]
rs2336157	1.00[EUR][1000 genomes]
rs2336158	1.00[EUR][1000 genomes]
rs2336159	1.00[EUR][1000 genomes]
rs2336161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2336556	1.00[EUR][1000 genomes]
rs2336557	1.00[EUR][1000 genomes]
rs2336559	1.00[EUR][1000 genomes]
rs2535615	1.00[EUR][1000 genomes]
rs2535616	1.00[EUR][1000 genomes]
rs2535618	1.00[EUR][1000 genomes]
rs2535619	1.00[EUR][1000 genomes]
rs2535620	1.00[EUR][1000 genomes]
rs2535621	1.00[EUR][1000 genomes]
rs2535622	1.00[EUR][1000 genomes]
rs2535623	1.00[EUR][1000 genomes]
rs2535624	1.00[EUR][1000 genomes]
rs2535626	1.00[EUR][1000 genomes]
rs2535628	1.00[EUR][1000 genomes]
rs2535631	1.00[EUR][1000 genomes]
rs2535632	1.00[EUR][1000 genomes]
rs2535636	1.00[EUR][1000 genomes]
rs2535637	1.00[EUR][1000 genomes]
rs2535638	1.00[EUR][1000 genomes]
rs2535639	1.00[EUR][1000 genomes]
rs2535641	1.00[EUR][1000 genomes]
rs2535642	1.00[EUR][1000 genomes]
rs2535645	1.00[EUR][1000 genomes]
rs2535646	1.00[EUR][1000 genomes]
rs2564925	1.00[EUR][1000 genomes]
rs2564927	1.00[EUR][1000 genomes]
rs2564935	0.86[AFR][1000 genomes]
rs2564943	1.00[EUR][1000 genomes]
rs2564946	1.00[EUR][1000 genomes]
rs2581814	1.00[EUR][1000 genomes]
rs2710315	1.00[EUR][1000 genomes]
rs2710316	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710318	1.00[EUR][1000 genomes]
rs2710319	1.00[EUR][1000 genomes]
rs2710320	1.00[EUR][1000 genomes]
rs2710321	1.00[EUR][1000 genomes]
rs2710324	1.00[EUR][1000 genomes]
rs2710325	1.00[EUR][1000 genomes]
rs2710327	1.00[EUR][1000 genomes]
rs2710328	1.00[EUR][1000 genomes]
rs2710329	1.00[EUR][1000 genomes]
rs2710336	1.00[EUR][1000 genomes]
rs2710340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710343	1.00[EUR][1000 genomes]
rs2710344	1.00[EUR][1000 genomes]
rs2878633	1.00[EUR][1000 genomes]
rs2878634	1.00[EUR][1000 genomes]
rs2878635	1.00[EUR][1000 genomes]
rs2878636	1.00[EUR][1000 genomes]
rs3774361	1.00[EUR][1000 genomes]
rs4234637	1.00[EUR][1000 genomes]
rs4234640	1.00[EUR][1000 genomes]
rs4687555	1.00[EUR][1000 genomes]
rs4687557	1.00[EUR][1000 genomes]
rs4687659	1.00[EUR][1000 genomes]
rs4687661	1.00[EUR][1000 genomes]
rs4687665	1.00[EUR][1000 genomes]
rs4687666	1.00[EUR][1000 genomes]
rs4687667	1.00[EUR][1000 genomes]
rs4687668	1.00[EUR][1000 genomes]
rs4687669	1.00[EUR][1000 genomes]
rs4687670	1.00[EUR][1000 genomes]
rs4687671	1.00[EUR][1000 genomes]
rs4687674	1.00[EUR][1000 genomes]
rs4687675	1.00[EUR][1000 genomes]
rs4687685	1.00[EUR][1000 genomes]
rs4687688	1.00[AMR][1000 genomes]
rs4687690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57430179	1.00[EUR][1000 genomes]
rs59094265	1.00[EUR][1000 genomes]
rs61274383	1.00[EUR][1000 genomes]
rs61641433	1.00[EUR][1000 genomes]
rs6445537	1.00[EUR][1000 genomes]
rs6445540	1.00[EUR][1000 genomes]
rs6445542	1.00[EUR][1000 genomes]
rs6445548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6774869	1.00[EUR][1000 genomes]
rs6776862	1.00[EUR][1000 genomes]
rs6776990	1.00[EUR][1000 genomes]
rs6787916	1.00[EUR][1000 genomes]
rs6797070	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72961745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72961755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72967404	1.00[EUR][1000 genomes]
rs7623667	1.00[EUR][1000 genomes]
rs7629350	1.00[EUR][1000 genomes]
rs7629528	1.00[EUR][1000 genomes]
rs7637212	1.00[EUR][1000 genomes]
rs7647534	1.00[EUR][1000 genomes]
rs7649515	1.00[EUR][1000 genomes]
rs7650966	1.00[EUR][1000 genomes]
rs7652175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7652476	1.00[EUR][1000 genomes]
rs9681089	1.00[EUR][1000 genomes]
rs9682449	1.00[EUR][1000 genomes]
rs9682819	1.00[EUR][1000 genomes]
rs9815408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9833487	1.00[EUR][1000 genomes]
rs9846827	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9869545	1.00[EUR][1000 genomes]
rs9877711	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446915	chr3:52786850-53049217	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv1818974	chr3:52966316-53096394	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv3823	chr3:53003659-53051063	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2756989	chr3:53006055-53039455	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759149	chr3:53006055-53039455	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv998445	chr3:53008146-53023199	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52954000-53012200	Weak transcription	Esophagus	oesophagus
2	chr3:52954200-53012200	Weak transcription	Pancreas	Pancrea
3	chr3:52962400-53012400	Weak transcription	Adipose Nuclei	Adipose
4	chr3:52964600-53012200	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:52965000-53039800	Weak transcription	Left Ventricle	heart
6	chr3:52977600-53017000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:52986400-53012200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:52987200-53017400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:52987600-53009400	Weak transcription	Placenta	Placenta
10	chr3:52987600-53014200	Weak transcription	Fetal Thymus	thymus
11	chr3:52987600-53014200	Weak transcription	Thymus	Thymus
12	chr3:52987800-53017000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:52987800-53017000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr3:52988000-53014200	Weak transcription	Primary T cells from cord blood	blood
15	chr3:52992000-53015800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:52993800-53016800	Weak transcription	Primary B cells from cord blood	blood
17	chr3:53001800-53008800	Weak transcription	Brain Substantia Nigra	brain
18	chr3:53002000-53017600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:53002400-53012000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:53002400-53013400	Weak transcription	Liver	Liver
21	chr3:53003400-53016000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:53003400-53017000	Weak transcription	Dnd41	blood
23	chr3:53004000-53012200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:53004200-53014800	Weak transcription	Fetal Intestine Small	intestine
25	chr3:53006200-53015600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:53006400-53012000	Weak transcription	Fetal Heart	heart
27	chr3:53007800-53008600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr3:53007800-53008600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr3:53008000-53008600	Enhancers	HepG2	liver
30	chr3:53008200-53008600	Enhancers	NHLF	lung
31	chr3:53008200-53008800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr3:53008200-53009400	Enhancers	GM12878-XiMat	blood
33	chr3:53008200-53015800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr3:53008400-53008800	Weak transcription	A549	lung
35	chr3:53008400-53031000	Weak transcription	Hela-S3	cervix

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