Variant report

Variant	rs9591288
Chromosome Location	chr13:50190246-50190247
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1043729	0.81[YRI][hapmap]
rs12429055	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429621	1.00[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap]
rs17072932	1.00[JPT][hapmap]
rs17072933	1.00[JPT][hapmap]
rs17073175	1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.81[ASN][1000 genomes]
rs2236326	0.93[YRI][hapmap]
rs2296502	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3782929	0.81[YRI][hapmap]
rs4941656	0.81[YRI][hapmap]
rs4942865	0.81[YRI][hapmap]
rs55693373	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67033206	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67360567	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7318481	1.00[JPT][hapmap]
rs7318922	0.93[YRI][hapmap]
rs73190794	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7321391	0.80[YRI][hapmap]
rs7323959	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7324615	1.00[JPT][hapmap]
rs7324805	1.00[JPT][hapmap]
rs7335220	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7335310	0.81[YRI][hapmap]
rs7336147	0.90[EUR][1000 genomes]
rs7994710	1.00[JPT][hapmap]
rs7995006	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7996015	0.88[ASW][hapmap];0.93[YRI][hapmap]
rs7998996	1.00[JPT][hapmap]
rs8002212	0.93[YRI][hapmap]
rs9316456	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9316470	0.80[ASW][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap]
rs9596107	1.00[JPT][hapmap]
rs9596108	1.00[JPT][hapmap]
rs9596111	1.00[JPT][hapmap]
rs9596112	1.00[JPT][hapmap]
rs9596127	1.00[JPT][hapmap]
rs9596137	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9596158	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596174	0.81[YRI][hapmap]
rs9596175	0.81[YRI][hapmap]
rs9596188	0.80[YRI][hapmap]
rs9671042	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS 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 target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv2763020	chr13:50105055-50192259	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv561616	chr13:50120435-50190246	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv949162	chr13:50120985-50195882	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv2752657	chr13:50144995-50244150	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer 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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50181200-50192000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr13:50181400-50194400	Weak transcription	Right Ventricle	heart
3	chr13:50184600-50193000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:50189200-50192800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr13:50189600-50190400	Enhancers	HUVEC	blood vessel
6	chr13:50189600-50191000	Enhancers	Primary hematopoietic stem cells	blood
7	chr13:50189600-50191000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:50189600-50191200	Enhancers	Fetal Stomach	stomach
9	chr13:50189600-50191400	Enhancers	Fetal Muscle Leg	muscle
10	chr13:50189800-50190400	Enhancers	Brain Angular Gyrus	brain
11	chr13:50189800-50190400	Enhancers	Brain Cingulate Gyrus	brain
12	chr13:50189800-50190400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr13:50189800-50190600	Enhancers	Ovary	ovary
14	chr13:50189800-50190600	Enhancers	Right Atrium	heart
15	chr13:50189800-50190600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr13:50189800-50190800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr13:50189800-50191000	Enhancers	Fetal Thymus	thymus
18	chr13:50189800-50191200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:50189800-50191200	Enhancers	Adipose Nuclei	Adipose
20	chr13:50189800-50191200	Enhancers	NHDF-Ad	bronchial
21	chr13:50189800-50192400	Enhancers	Fetal Lung	lung
22	chr13:50190000-50190400	Enhancers	Colon Smooth Muscle	Colon
23	chr13:50190000-50190400	Flanking Active TSS	Fetal Heart	heart
24	chr13:50190000-50190800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:50190000-50190800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr13:50190000-50190800	Enhancers	Brain Anterior Caudate	brain
27	chr13:50190000-50190800	Enhancers	Rectal Smooth Muscle	rectum
28	chr13:50190000-50190800	Enhancers	NHLF	lung
29	chr13:50190000-50191000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr13:50190000-50191600	Weak transcription	Lung	lung
31	chr13:50190000-50194200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:50190200-50190800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr13:50190200-50191000	Enhancers	Primary B cells from cord blood	blood
34	chr13:50190200-50191200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:50190200-50191200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr13:50190200-50194400	Weak transcription	Left Ventricle	heart
37	chr13:50190200-50194400	Weak transcription	Spleen	Spleen

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