Variant report

Variant	rs73500278
Chromosome Location	chr13:50999938-50999939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50995789..50999098-chr13:50999435..51002324,3	K562	blood:
2	chr13:50999195..51000016-chr6:117926177..117926868,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1149854	1.00[EUR][1000 genomes]
rs1149855	1.00[EUR][1000 genomes]
rs1149856	1.00[EUR][1000 genomes]
rs2762044	1.00[EUR][1000 genomes]
rs2762062	1.00[EUR][1000 genomes]
rs55929963	1.00[EUR][1000 genomes]
rs55987657	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56222340	1.00[EUR][1000 genomes]
rs56277884	1.00[EUR][1000 genomes]
rs56285935	1.00[EUR][1000 genomes]
rs57723811	1.00[EUR][1000 genomes]
rs57938299	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58214088	1.00[EUR][1000 genomes]
rs58521176	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58911842	1.00[EUR][1000 genomes]
rs59137919	1.00[EUR][1000 genomes]
rs59563441	1.00[EUR][1000 genomes]
rs59729773	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59951137	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60147627	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60154020	1.00[EUR][1000 genomes]
rs61382687	1.00[EUR][1000 genomes]
rs61495306	1.00[EUR][1000 genomes]
rs7324132	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7337343	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73483957	1.00[EUR][1000 genomes]
rs73483973	1.00[EUR][1000 genomes]
rs73495815	1.00[EUR][1000 genomes]
rs73495825	1.00[EUR][1000 genomes]
rs73495852	1.00[EUR][1000 genomes]
rs73495865	1.00[EUR][1000 genomes]
rs73495869	1.00[EUR][1000 genomes]
rs73495873	1.00[EUR][1000 genomes]
rs73495880	1.00[EUR][1000 genomes]
rs73495885	1.00[EUR][1000 genomes]
rs73495888	1.00[EUR][1000 genomes]
rs73495900	1.00[EUR][1000 genomes]
rs73498015	1.00[EUR][1000 genomes]
rs73498022	1.00[EUR][1000 genomes]
rs73498030	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73498061	1.00[EUR][1000 genomes]
rs73498091	1.00[EUR][1000 genomes]
rs73498093	1.00[EUR][1000 genomes]
rs73498096	1.00[EUR][1000 genomes]
rs73500213	1.00[EUR][1000 genomes]
rs73500225	1.00[EUR][1000 genomes]
rs73500236	1.00[EUR][1000 genomes]
rs73500241	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73500242	1.00[EUR][1000 genomes]
rs73500246	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73500250	1.00[EUR][1000 genomes]
rs73500259	1.00[EUR][1000 genomes]
rs73500262	1.00[EUR][1000 genomes]
rs73500267	1.00[AFR][1000 genomes]
rs73500270	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73500279	1.00[EUR][1000 genomes]
rs73500287	1.00[EUR][1000 genomes]
rs73500290	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73500300	1.00[EUR][1000 genomes]
rs73500302	1.00[EUR][1000 genomes]
rs73502108	1.00[EUR][1000 genomes]
rs73502118	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73502137	1.00[EUR][1000 genomes]
rs74079205	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74079217	1.00[EUR][1000 genomes]
rs74079242	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7981983	1.00[EUR][1000 genomes]
rs7990648	1.00[EUR][1000 genomes]
rs7996036	1.00[EUR][1000 genomes]
rs9591331	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50992200-51014600	Weak transcription	HepG2	liver
2	chr13:50994000-51002400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:50994400-51001200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:50995200-51000000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr13:50996000-51001600	Enhancers	K562	blood
6	chr13:50996600-51022200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:50997000-51001000	Weak transcription	Stomach Mucosa	stomach
8	chr13:50997000-51001400	Weak transcription	Fetal Muscle Leg	muscle
9	chr13:50997000-51002200	Weak transcription	Right Atrium	heart
10	chr13:50997200-51001200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr13:50997200-51001400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr13:50997400-51000800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr13:50997400-51001200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr13:50997600-51001400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr13:50997600-51002200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr13:50997800-51002600	Weak transcription	HSMMtube	muscle
17	chr13:50998600-51000800	Weak transcription	Fetal Heart	heart
18	chr13:50999400-51000200	Enhancers	Left Ventricle	heart
19	chr13:50999400-51000600	Enhancers	Primary B cells from peripheral blood	blood
20	chr13:50999400-51003800	Enhancers	Fetal Thymus	thymus
21	chr13:50999600-51000000	Enhancers	Spleen	Spleen
22	chr13:50999600-51000200	Enhancers	Thymus	Thymus
23	chr13:50999800-51000200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr13:50999800-51000200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr13:50999800-51000200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr13:50999800-51001600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr13:50999800-51002000	Enhancers	Brain Germinal Matrix	brain

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