Variant report

Variant	rs202346
Chromosome Location	chr13:51087443-51087444
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:51085819..51089100-chr13:51090794..51093089,4	K562	blood:
2	chr13:51087212..51089990-chr13:51483181..51484978,2	K562	blood:
3	chr13:51066276..51068266-chr13:51086109..51088000,2	K562	blood:
4	chr13:50569721..50571547-chr13:51085881..51088680,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233672	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000136104	Chromatin interaction
ENSG00000176124	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11618527	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1262775	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1262776	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1262778	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1262779	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1262780	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1327653	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs149889	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs157164	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs157165	0.86[EUR][1000 genomes]
rs157166	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs157167	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs157169	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs157173	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1626445	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1630605	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1638703	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1752106	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1752107	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1753633	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1753639	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs183950	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs201754	0.83[EUR][1000 genomes]
rs201757	0.86[EUR][1000 genomes]
rs201762	0.85[EUR][1000 genomes]
rs202347	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs202348	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs202349	0.88[AMR][1000 genomes]
rs2286658	0.83[ASN][1000 genomes]
rs2429562	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3116598	0.82[EUR][1000 genomes]
rs3116600	0.81[EUR][1000 genomes]
rs3116601	0.81[EUR][1000 genomes]
rs3118903	0.83[EUR][1000 genomes]
rs3118909	0.81[EUR][1000 genomes]
rs3118910	0.80[EUR][1000 genomes]
rs495838	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs616268	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs975319	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs987086	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription 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	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1040	chr13:51041591-51090903	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1835159	chr13:51061044-51091390	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1815534	chr13:51061044-51092946	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1816672	chr13:51061044-51092946	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv1830736	chr13:51061044-51092946	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv1834352	chr13:51061044-51092946	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv1841390	chr13:51061044-51092946	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv1843375	chr13:51061044-51092946	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51084200-51093200	Weak transcription	Spleen	Spleen
2	chr13:51084400-51093000	Weak transcription	Lung	lung
3	chr13:51085400-51087800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:51085600-51089200	Enhancers	Fetal Intestine Small	intestine
5	chr13:51085800-51087600	Flanking Active TSS	Dnd41	blood
6	chr13:51086000-51087600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr13:51086000-51088000	Enhancers	Fetal Kidney	kidney
8	chr13:51086000-51088000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr13:51086000-51088200	Enhancers	Fetal Stomach	stomach
10	chr13:51086200-51087600	Enhancers	Small Intestine	intestine
11	chr13:51086200-51093000	Weak transcription	Placenta	Placenta
12	chr13:51086400-51087600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:51086400-51087600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr13:51086400-51092400	Weak transcription	Pancreas	Pancrea
15	chr13:51086800-51087600	Active TSS	HepG2	liver
16	chr13:51086800-51087800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:51086800-51087800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:51086800-51087800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr13:51086800-51089200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr13:51086800-51089200	Enhancers	Fetal Intestine Large	intestine
21	chr13:51087000-51087600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr13:51087000-51087600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr13:51087000-51087600	Enhancers	HMEC	breast
24	chr13:51087000-51087800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr13:51087000-51088000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr13:51087000-51088000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr13:51087000-51088200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr13:51087000-51088200	Enhancers	HSMMtube	muscle
29	chr13:51087000-51088800	Weak transcription	Aorta	Aorta
30	chr13:51087000-51089200	Enhancers	Primary hematopoietic stem cells	blood
31	chr13:51087000-51089200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr13:51087000-51089400	Enhancers	Fetal Thymus	thymus
33	chr13:51087200-51087600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr13:51087200-51087600	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr13:51087200-51087600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr13:51087200-51087600	Flanking Active TSS	NHLF	lung
37	chr13:51087200-51087800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr13:51087200-51087800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr13:51087200-51087800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr13:51087200-51087800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr13:51087200-51087800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr13:51087200-51087800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr13:51087200-51087800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr13:51087200-51087800	Weak transcription	Colonic Mucosa	Colon
45	chr13:51087200-51087800	Enhancers	Fetal Muscle Trunk	muscle
46	chr13:51087200-51088000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:51087200-51088000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr13:51087200-51088000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr13:51087200-51088000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr13:51087200-51088000	Enhancers	Muscle Satellite Cultured Cells	--

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