Variant report

Variant	rs7491365
Chromosome Location	chr13:76203070-76203071
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11840945	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12866456	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs12872149	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1323696	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1535726	0.93[ASN][1000 genomes]
rs2031235	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs2274049	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2281762	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2328961	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2328962	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs3812844	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3812845	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs3812846	1.00[CHB][hapmap]
rs4539477	1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4884008	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs4885312	0.89[ASN][1000 genomes]
rs4885313	0.88[ASN][1000 genomes]
rs4885319	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4885321	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4885328	0.93[ASN][1000 genomes]
rs4885330	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4885331	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4885332	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4885333	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4885334	0.96[ASN][1000 genomes]
rs61960594	0.92[ASN][1000 genomes]
rs6562920	0.94[ASN][1000 genomes]
rs7139862	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs7319334	0.83[CHB][hapmap]
rs7319441	0.80[ASN][1000 genomes]
rs7326807	1.00[CHB][hapmap]
rs7331205	0.85[ASN][1000 genomes]
rs7358977	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs7982534	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7982613	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7984443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7995040	0.85[CEU][hapmap];0.84[CHB][hapmap]
rs7995889	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8000062	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8192738	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8192741	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs8192744	1.00[CEU][hapmap]
rs8192746	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8192748	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs8192750	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8192751	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8192753	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9318358	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs9530450	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9530453	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9530456	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9543969	0.84[CHB][hapmap]
rs9543994	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9543996	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9543997	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9543999	0.93[ASN][1000 genomes]
rs9544008	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9565175	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9573580	0.84[CHB][hapmap]
rs9573584	0.89[ASN][1000 genomes]
rs9573590	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9635000	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs966058	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs966059	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs972542	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs975938	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900571	chr13:76123678-76207565	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv900577	chr13:76132484-76207565	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76125000-76209600	Weak transcription	Right Ventricle	heart
2	chr13:76148200-76209600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr13:76149800-76209600	Weak transcription	Lung	lung
4	chr13:76159000-76209600	Weak transcription	Brain Hippocampus Middle	brain
5	chr13:76164600-76209400	Weak transcription	Esophagus	oesophagus
6	chr13:76165200-76209200	Weak transcription	Fetal Muscle Leg	muscle
7	chr13:76170800-76209600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr13:76177600-76209400	Weak transcription	Left Ventricle	heart
9	chr13:76177600-76209600	Weak transcription	Fetal Stomach	stomach
10	chr13:76180000-76209600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr13:76180600-76204000	Weak transcription	GM12878-XiMat	blood
12	chr13:76180800-76204600	Weak transcription	Dnd41	blood
13	chr13:76180800-76209200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr13:76180800-76209200	Weak transcription	Adipose Nuclei	Adipose
15	chr13:76180800-76209600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:76181000-76209400	Weak transcription	Fetal Thymus	thymus
17	chr13:76181000-76209600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr13:76181000-76209600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr13:76181200-76209400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr13:76181200-76209600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr13:76181600-76207400	Weak transcription	HMEC	breast
22	chr13:76182800-76209400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr13:76189600-76209400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr13:76190600-76209600	Weak transcription	Brain Angular Gyrus	brain
25	chr13:76192000-76209600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:76192200-76209400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:76192600-76209600	Weak transcription	Fetal Intestine Small	intestine
28	chr13:76193400-76209400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:76196200-76207600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:76196800-76203600	Weak transcription	NH-A	brain
31	chr13:76197000-76203600	Weak transcription	HSMMtube	muscle
32	chr13:76197000-76209600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr13:76197800-76209600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:76198800-76209400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr13:76199800-76209600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr13:76200000-76205800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:76200200-76208200	Weak transcription	Placenta	Placenta
38	chr13:76200200-76209400	Weak transcription	Primary T cells from cord blood	blood
39	chr13:76200200-76209400	Weak transcription	Aorta	Aorta
40	chr13:76200200-76209600	Weak transcription	Primary B cells from cord blood	blood
41	chr13:76200200-76209600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr13:76200200-76209600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr13:76200400-76209400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr13:76201200-76204000	Genic enhancers	Osteobl	bone
45	chr13:76201400-76205600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr13:76201600-76203200	Enhancers	NHLF	lung
47	chr13:76201800-76207200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:76202200-76204200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr13:76202400-76209400	Weak transcription	Fetal Lung	lung
50	chr13:76202600-76203400	Weak transcription	NHDF-Ad	bronchial

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