Variant report

Variant	rs3012135
Chromosome Location	chr13:49566515-49566516
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49561168..49563389-chr13:49566205..49568551,2	K562	blood:

Variant related genes	Relation type
ENSG00000201662	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs12872974	0.82[EUR][1000 genomes]
rs1359066	0.82[EUR][1000 genomes]
rs1928109	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1928110	0.95[EUR][1000 genomes]
rs1937180	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1937181	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2021622	0.82[EUR][1000 genomes]
rs2026029	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2149498	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2181537	0.80[EUR][1000 genomes]
rs2181538	0.80[EUR][1000 genomes]
rs2181539	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2183095	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2407265	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2407266	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2897633	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2987528	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2987532	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2987535	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994377	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2994378	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2994379	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2994380	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2994381	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3012116	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3012117	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3012118	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3012121	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3012127	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3012133	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3012136	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34360275	0.81[AFR][1000 genomes]
rs4142065	0.82[EUR][1000 genomes]
rs4942795	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4942796	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4942798	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4942799	0.95[EUR][1000 genomes]
rs4942800	0.83[EUR][1000 genomes]
rs6561491	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6561493	0.83[EUR][1000 genomes]
rs6561496	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7139854	0.95[EUR][1000 genomes]
rs720627	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs728075	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7318871	0.82[EUR][1000 genomes]
rs7322842	0.83[ASN][1000 genomes]
rs7325026	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7328000	0.91[EUR][1000 genomes]
rs7329291	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7331917	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7983885	0.95[EUR][1000 genomes]
rs7986624	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7987258	0.83[EUR][1000 genomes]
rs7988168	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7990573	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7994910	0.90[EUR][1000 genomes]
rs7995616	0.89[EUR][1000 genomes]
rs7997118	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7998359	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7999513	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9316426	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9316427	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9316428	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9526517	0.83[EUR][1000 genomes]
rs9526518	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9526520	0.95[EUR][1000 genomes]
rs9526521	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9535126	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535133	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9535136	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9535140	0.83[EUR][1000 genomes]
rs9535141	0.83[EUR][1000 genomes]
rs9535145	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9535147	0.82[EUR][1000 genomes]
rs9535149	0.81[EUR][1000 genomes]
rs9535154	0.81[AMR][1000 genomes]
rs9562866	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9568150	0.81[EUR][1000 genomes]
rs9568151	0.81[EUR][1000 genomes]
rs9591235	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9596064	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1034	chr13:49526761-49572727	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv455882	chr13:49531551-49679157	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv561593	chr13:49531551-49679157	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv900067	chr13:49552271-49594818	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv900068	chr13:49559790-49605774	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49551400-49638800	Weak transcription	Pancreas	Pancrea
2	chr13:49551800-49569400	Weak transcription	Psoas Muscle	Psoas
3	chr13:49552200-49570400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr13:49553600-49596200	Weak transcription	Ovary	ovary
5	chr13:49554200-49573000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:49554200-49573200	Weak transcription	NHDF-Ad	bronchial
7	chr13:49554400-49567400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr13:49554400-49568600	Weak transcription	Placenta	Placenta
9	chr13:49554600-49568600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:49555000-49569200	Weak transcription	HMEC	breast
11	chr13:49555000-49573000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr13:49555000-49581600	Weak transcription	Left Ventricle	heart
13	chr13:49557000-49579800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr13:49557000-49626800	Weak transcription	Right Ventricle	heart
15	chr13:49557200-49573200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:49557800-49567000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr13:49560000-49587600	Weak transcription	Fetal Kidney	kidney
18	chr13:49560200-49572000	Weak transcription	Colon Smooth Muscle	Colon
19	chr13:49560200-49578000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr13:49560200-49581000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr13:49560800-49587200	Weak transcription	Small Intestine	intestine
22	chr13:49562000-49572800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:49562400-49573000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr13:49563400-49567000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr13:49563800-49573000	Weak transcription	Hela-S3	cervix
26	chr13:49563800-49583400	Weak transcription	Fetal Heart	heart
27	chr13:49565000-49567000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr13:49565200-49573000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr13:49565600-49566600	Weak transcription	HSMM	muscle
30	chr13:49565600-49567000	Weak transcription	Liver	Liver
31	chr13:49565600-49568400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr13:49565600-49569000	Weak transcription	Osteobl	bone
33	chr13:49565600-49573200	Weak transcription	Dnd41	blood
34	chr13:49565600-49573400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr13:49565600-49573600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr13:49565800-49567400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr13:49565800-49568400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr13:49565800-49568600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:49565800-49568600	Weak transcription	Fetal Intestine Small	intestine
40	chr13:49565800-49571200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr13:49565800-49571400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr13:49565800-49571600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr13:49566000-49585400	Weak transcription	Fetal Stomach	stomach
44	chr13:49566200-49572800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr13:49566200-49573400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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