Variant report

Variant	rs852979
Chromosome Location	chr5:142693398-142693399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:142692942..142695069-chr5:142695202..142696766,2	K562	blood:
2	chr5:142692199..142694089-chr5:142770902..142772456,2	K562	blood:
3	chr5:142692596..142694749-chr5:142742836..142745085,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10052957	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11747997	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1438732	0.93[ASN][1000 genomes]
rs1635474	0.80[EUR][1000 genomes]
rs1635475	0.82[ASN][1000 genomes]
rs174048	0.98[ASN][1000 genomes]
rs174050	0.98[ASN][1000 genomes]
rs1837262	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1866388	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs190488	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2043840	0.93[ASN][1000 genomes]
rs258748	0.98[ASN][1000 genomes]
rs258750	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs258751	0.98[ASN][1000 genomes]
rs258752	0.82[ASN][1000 genomes]
rs258753	0.81[EUR][1000 genomes]
rs258754	0.81[EUR][1000 genomes]
rs258755	0.81[EUR][1000 genomes]
rs258757	0.80[ASN][1000 genomes]
rs258813	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs258814	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2918415	0.93[ASN][1000 genomes]
rs2918416	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2918417	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2918418	0.93[ASN][1000 genomes]
rs2918419	0.93[ASN][1000 genomes]
rs2963148	0.93[ASN][1000 genomes]
rs2963149	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2963150	0.93[ASN][1000 genomes]
rs2963153	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2963154	0.93[ASN][1000 genomes]
rs33380	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs33381	0.93[ASN][1000 genomes]
rs33382	0.93[ASN][1000 genomes]
rs33389	0.98[ASN][1000 genomes]
rs6188	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6194	0.98[ASN][1000 genomes]
rs6196	0.98[ASN][1000 genomes]
rs6861962	0.93[ASN][1000 genomes]
rs712189	0.87[ASN][1000 genomes]
rs72801090	0.89[ASN][1000 genomes]
rs852975	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs852977	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs852978	0.98[ASN][1000 genomes]
rs852982	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs852984	0.93[ASN][1000 genomes]
rs853156	0.82[ASN][1000 genomes]
rs853157	0.82[ASN][1000 genomes]
rs853176	0.83[ASN][1000 genomes]
rs853179	0.85[ASN][1000 genomes]
rs853182	0.98[ASN][1000 genomes]
rs853184	0.98[ASN][1000 genomes]
rs860457	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs860458	0.98[ASN][1000 genomes]
rs864082	0.98[ASN][1000 genomes]
rs864355	0.85[ASN][1000 genomes]
rs865482	0.98[ASN][1000 genomes]
rs9324918	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825941	chr5:142568715-142728031	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv33748	chr5:142638267-142699595	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv5041	chr5:142653189-142697896	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1023976	chr5:142692062-142813664	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription 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 lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142655800-142699200	Strong transcription	Dnd41	blood
2	chr5:142657800-142695400	Weak transcription	Pancreas	Pancrea
3	chr5:142658200-142694800	Weak transcription	Right Ventricle	heart
4	chr5:142658400-142714800	Weak transcription	Esophagus	oesophagus
5	chr5:142664400-142693400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:142668800-142693800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:142677600-142697800	Weak transcription	Fetal Brain Male	brain
8	chr5:142678200-142695400	Weak transcription	Gastric	stomach
9	chr5:142678400-142693400	Weak transcription	Aorta	Aorta
10	chr5:142678400-142693400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:142678400-142693600	Weak transcription	Brain Angular Gyrus	brain
12	chr5:142678400-142693800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:142682600-142698400	Weak transcription	Stomach Mucosa	stomach
14	chr5:142683200-142693800	Strong transcription	Primary T cells from cord blood	blood
15	chr5:142683200-142693800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr5:142683200-142693800	Strong transcription	Fetal Thymus	thymus
17	chr5:142684200-142697800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:142684400-142693600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:142685000-142693600	Strong transcription	Fetal Intestine Large	intestine
20	chr5:142685000-142694000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:142685400-142693400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:142686000-142693400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:142686800-142693800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr5:142687200-142693600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:142687200-142693600	Strong transcription	Fetal Muscle Leg	muscle
26	chr5:142687400-142693800	Strong transcription	Primary B cells from cord blood	blood
27	chr5:142687600-142693800	Strong transcription	Thymus	Thymus
28	chr5:142688400-142695600	Weak transcription	Lung	lung
29	chr5:142688600-142693600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr5:142689000-142707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:142689200-142693400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:142689200-142693800	Genic enhancers	NHLF	lung
33	chr5:142689200-142695400	Weak transcription	Psoas Muscle	Psoas
34	chr5:142689200-142695400	Enhancers	HUVEC	blood vessel
35	chr5:142689600-142693600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
36	chr5:142689800-142693800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:142689800-142693800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:142689800-142694000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:142690000-142693800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr5:142690000-142695600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:142690000-142695600	Weak transcription	Small Intestine	intestine
42	chr5:142690600-142693600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:142690800-142693800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr5:142690800-142693800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:142690800-142693800	Genic enhancers	Osteobl	bone
46	chr5:142691000-142693400	Genic enhancers	NHDF-Ad	bronchial
47	chr5:142691400-142693400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
48	chr5:142691400-142693800	Genic enhancers	HMEC	breast
49	chr5:142691600-142695400	Weak transcription	Right Atrium	heart
50	chr5:142691600-142703400	Weak transcription	Spleen	Spleen

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