Variant report

Variant	rs73239280
Chromosome Location	chr5:118695579-118695580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118693986..118696448-chr5:118697023..118698533,2	K562	blood:
2	chr5:118690596..118694725-chr5:118695495..118698867,4	MCF-7	breast:
3	chr5:118694003..118697109-chr5:118701584..118704422,3	K562	blood:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11957102	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1396609	0.85[ASN][1000 genomes]
rs17145248	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17145265	0.94[ASN][1000 genomes]
rs17145294	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17385413	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3797340	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3797341	0.90[ASN][1000 genomes]
rs3797342	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3797343	0.90[ASN][1000 genomes]
rs67328001	0.84[ASN][1000 genomes]
rs6864305	0.87[ASN][1000 genomes]
rs6869512	0.87[ASN][1000 genomes]
rs6870253	0.93[ASN][1000 genomes]
rs6876224	0.85[ASN][1000 genomes]
rs6877025	0.98[ASN][1000 genomes]
rs6878879	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6883657	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6884061	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6897359	0.84[ASN][1000 genomes]
rs73237292	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73237297	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73239278	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703408	0.94[EUR][1000 genomes]
rs7707470	0.83[ASN][1000 genomes]
rs7731632	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv16366	chr5:118692052-118702846	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118690600-118700400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:118691800-118700400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr5:118692000-118707200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr5:118692200-118696800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:118692400-118696200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:118692600-118695600	Enhancers	Primary T cells from cord blood	blood
7	chr5:118692600-118696000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:118692600-118697200	Enhancers	Primary hematopoietic stem cells	blood
9	chr5:118692800-118696000	Weak transcription	HSMM	muscle
10	chr5:118692800-118702000	Weak transcription	Aorta	Aorta
11	chr5:118693000-118695800	Enhancers	Fetal Thymus	thymus
12	chr5:118693000-118695800	Weak transcription	Hela-S3	cervix
13	chr5:118693000-118696000	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:118693000-118697000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:118693000-118697800	Enhancers	Fetal Heart	heart
16	chr5:118693000-118698600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:118693000-118699800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr5:118693200-118696200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:118693200-118698600	Weak transcription	Right Ventricle	heart
20	chr5:118693200-118698800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr5:118693400-118695800	Weak transcription	NHDF-Ad	bronchial
22	chr5:118693400-118695800	Weak transcription	Osteobl	bone
23	chr5:118693400-118696200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr5:118693400-118696200	Weak transcription	Placenta	Placenta
25	chr5:118693400-118696400	Weak transcription	NH-A	brain
26	chr5:118693400-118696400	Weak transcription	NHLF	lung
27	chr5:118693400-118696800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:118693400-118696800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr5:118693400-118696800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:118693400-118697000	Enhancers	Small Intestine	intestine
31	chr5:118693400-118697600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:118693400-118699200	Enhancers	Primary T cells fromperipheralblood	blood
33	chr5:118693400-118706800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr5:118693600-118695600	Enhancers	Thymus	Thymus
35	chr5:118693600-118695800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:118693800-118695800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:118693800-118696000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:118693800-118698200	Enhancers	Adipose Nuclei	Adipose
39	chr5:118693800-118701600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr5:118694000-118696200	Enhancers	Fetal Kidney	kidney
41	chr5:118694000-118707200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr5:118694200-118695600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:118694400-118695600	Enhancers	Esophagus	oesophagus
44	chr5:118694400-118696000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr5:118694400-118696400	Enhancers	HMEC	breast
46	chr5:118694400-118696600	Enhancers	Duodenum Mucosa	Duodenum
47	chr5:118694400-118700400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:118694400-118702800	Genic enhancers	Primary B cells from peripheral blood	blood
49	chr5:118694400-118704600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:118694600-118695600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links