Variant report

Variant	rs245588
Chromosome Location	chr5:36923210-36923211
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36878820..36881398-chr5:36921398..36924147,2	K562	blood:
2	chr5:36910368..36911914-chr5:36922337..36924698,2	MCF-7	breast:
3	chr5:36873234..36875731-chr5:36921521..36923722,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12656269	0.81[ASN][1000 genomes]
rs12659960	0.81[ASN][1000 genomes]
rs12659981	0.81[ASN][1000 genomes]
rs12659983	0.81[ASN][1000 genomes]
rs13177875	0.80[EUR][1000 genomes]
rs13183090	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs151945	0.90[ASN][1000 genomes]
rs151946	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs151947	0.90[ASN][1000 genomes]
rs158410	0.90[ASN][1000 genomes]
rs158411	0.90[ASN][1000 genomes]
rs158412	0.90[ASN][1000 genomes]
rs158792	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158793	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs158794	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs158797	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158798	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158799	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158802	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs159140	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159141	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs167146	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16903459	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16903490	0.82[ASN][1000 genomes]
rs181755	0.90[ASN][1000 genomes]
rs2123010	0.81[ASN][1000 genomes]
rs2133786	0.84[ASN][1000 genomes]
rs245587	0.90[ASN][1000 genomes]
rs292160	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs292179	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292180	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs292181	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs292186	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs292196	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293746	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs293748	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs293774	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs294695	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34066351	0.85[ASN][1000 genomes]
rs34479946	0.85[ASN][1000 genomes]
rs34701667	0.87[ASN][1000 genomes]
rs34920909	0.84[ASN][1000 genomes]
rs35011787	0.96[ASN][1000 genomes]
rs35135658	0.81[ASN][1000 genomes]
rs35263618	0.84[ASN][1000 genomes]
rs35701604	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35899185	0.84[ASN][1000 genomes]
rs468022	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56261529	0.96[ASN][1000 genomes]
rs56974222	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58952013	0.81[ASN][1000 genomes]
rs59889951	0.84[ASN][1000 genomes]
rs61748200	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv830264	chr5:36887002-36941494	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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	27 gene(s)	inside rSNPs	diseases
7	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36895800-36928600	Weak transcription	HSMM	muscle
2	chr5:36899000-36926400	Weak transcription	Gastric	stomach
3	chr5:36905200-36927800	Weak transcription	Psoas Muscle	Psoas
4	chr5:36907400-36928600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:36907400-36938200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:36910200-36928000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:36911200-36928600	Weak transcription	A549	lung
8	chr5:36911600-36928600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:36913000-36925800	Weak transcription	Primary T cells from cord blood	blood
10	chr5:36913800-36931400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr5:36919600-36928000	Weak transcription	Ovary	ovary
12	chr5:36919600-36928000	Weak transcription	Small Intestine	intestine
13	chr5:36919600-36931400	Weak transcription	Left Ventricle	heart
14	chr5:36919600-36938200	Weak transcription	Pancreas	Pancrea
15	chr5:36919800-36925800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:36919800-36926200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:36919800-36953000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr5:36919800-36961600	Weak transcription	K562	blood
19	chr5:36920000-36928200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:36920000-36928600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr5:36920400-36951400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:36921000-36924000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:36921000-36925800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:36921600-36924000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:36921600-36925600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr5:36921600-36926600	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:36921600-36929200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:36921600-36931600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:36921800-36924600	Weak transcription	Fetal Heart	heart
30	chr5:36921800-36924800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:36922000-36923400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:36922400-36923600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:36923000-36923400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:36923200-36924600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr5:36923200-36925200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:36923200-36926000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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