Variant report

Variant	rs9591235
Chromosome Location	chr13:49628281-49628282
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs12872974	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1359066	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1407827	0.83[EUR][1000 genomes]
rs1407829	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1928109	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1928110	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1937180	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1937181	0.84[EUR][1000 genomes]
rs1983805	0.83[EUR][1000 genomes]
rs2021622	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2026029	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2146748	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2149498	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2181537	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2181538	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2181539	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2183095	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2407265	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2407266	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2897633	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987528	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2987532	0.81[EUR][1000 genomes]
rs2987535	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2994377	0.89[EUR][1000 genomes]
rs2994378	0.89[EUR][1000 genomes]
rs2994379	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2994380	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2994381	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3012116	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3012117	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3012118	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3012121	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3012127	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3012133	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3012135	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3012136	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34360275	0.81[EUR][1000 genomes]
rs4142065	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4530025	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4942795	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4942796	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4942798	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4942799	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4942800	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6561491	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6561493	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6561496	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7139854	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs720627	0.81[EUR][1000 genomes]
rs728075	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7318871	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7325026	0.80[EUR][1000 genomes]
rs7328000	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7329291	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7331917	0.88[EUR][1000 genomes]
rs7333097	0.82[ASN][1000 genomes]
rs7338529	0.85[EUR][1000 genomes]
rs7983885	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7986624	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7987258	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7988168	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7989175	0.82[ASN][1000 genomes]
rs7990573	0.83[EUR][1000 genomes]
rs7994910	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7995616	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7997118	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7998359	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7999513	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9316426	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9316427	0.87[EUR][1000 genomes]
rs9316428	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316429	0.96[ASN][1000 genomes]
rs9526517	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9526518	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9526520	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9526521	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9535126	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9535133	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9535136	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535140	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9535141	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9535145	0.88[EUR][1000 genomes]
rs9535146	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9535147	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9535149	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9535154	0.82[EUR][1000 genomes]
rs9562866	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9568150	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9568151	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9596064	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	esv1803100	chr13:49576474-49655941	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49551400-49638800	Weak transcription	Pancreas	Pancrea
2	chr13:49573400-49634800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr13:49582200-49659000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr13:49584200-49649200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr13:49592800-49649600	Weak transcription	Fetal Intestine Large	intestine
6	chr13:49594800-49636000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr13:49598000-49650200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr13:49599000-49649200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr13:49601800-49660600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:49603200-49649200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr13:49603200-49652200	Weak transcription	Dnd41	blood
12	chr13:49604800-49636400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:49605200-49643400	Weak transcription	HSMM	muscle
14	chr13:49608800-49638800	Weak transcription	Ovary	ovary
15	chr13:49608800-49658800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr13:49612600-49628600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:49614600-49628400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:49618600-49636000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr13:49619400-49628600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:49620600-49636200	Weak transcription	Primary T cells from cord blood	blood
21	chr13:49624200-49628800	Weak transcription	Fetal Stomach	stomach
22	chr13:49625600-49631200	Weak transcription	GM12878-XiMat	blood
23	chr13:49625600-49636600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr13:49625600-49642600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:49625800-49631400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr13:49626000-49628600	Weak transcription	Primary B cells from cord blood	blood
27	chr13:49626000-49636200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr13:49626200-49650200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr13:49626600-49628600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr13:49626600-49628600	Enhancers	NHEK	skin
31	chr13:49626600-49628800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:49626600-49629200	Enhancers	Placenta	Placenta
33	chr13:49626800-49628800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr13:49627000-49630800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr13:49627200-49636800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr13:49627200-49656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:49627400-49628600	Weak transcription	Lung	lung
38	chr13:49627400-49628800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr13:49627400-49628800	Weak transcription	Fetal Intestine Small	intestine
40	chr13:49627400-49629200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:49627400-49634600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr13:49627400-49635200	Weak transcription	Right Ventricle	heart
43	chr13:49627400-49635600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr13:49627400-49638600	Weak transcription	Left Ventricle	heart
45	chr13:49627400-49656800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr13:49627400-49672400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr13:49627600-49628800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr13:49627600-49628800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr13:49627600-49635200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr13:49627800-49628600	Weak transcription	HMEC	breast

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