Variant report

Variant	rs60372583
Chromosome Location	chr5:118271478-118271479
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	chr5:118266340..118268996-chr5:118269997..118272106,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs17144674	1.00[AMR][1000 genomes]
rs17144719	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17144749	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17144777	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17144807	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56253801	0.81[AFR][1000 genomes]
rs57269254	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57879671	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57935306	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58272882	1.00[AMR][1000 genomes]
rs58511548	1.00[AMR][1000 genomes]
rs58532063	1.00[AMR][1000 genomes]
rs58886471	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58907676	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59983556	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60221161	1.00[AMR][1000 genomes]
rs61128026	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61196104	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73236928	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73236931	1.00[AMR][1000 genomes]
rs73236934	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73236952	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73236955	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73236956	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73239017	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73239018	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73239038	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73239050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73239054	0.90[AFR][1000 genomes]
rs73239061	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73239070	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73239073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253504	1.00[AMR][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	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118225400-118300400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:118233800-118289200	Weak transcription	Psoas Muscle	Psoas
3	chr5:118244000-118279600	Weak transcription	Liver	Liver
4	chr5:118244000-118287400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:118245000-118272200	Weak transcription	Aorta	Aorta
6	chr5:118250400-118289400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:118252000-118279000	Weak transcription	Left Ventricle	heart
8	chr5:118253200-118280200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:118253400-118279200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:118254000-118279800	Weak transcription	Pancreas	Pancrea
11	chr5:118256000-118277800	Weak transcription	Fetal Intestine Small	intestine
12	chr5:118257400-118285600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:118257600-118279800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:118258000-118280400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:118259600-118286800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:118259600-118305000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:118260600-118289400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:118262600-118282800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:118263000-118306000	Weak transcription	Primary T cells from cord blood	blood
20	chr5:118263400-118304000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:118267200-118274000	Weak transcription	Fetal Stomach	stomach
22	chr5:118268400-118286800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:118268600-118277400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:118269400-118276800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:118269400-118277800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:118269600-118286800	Weak transcription	Adipose Nuclei	Adipose
27	chr5:118269800-118273200	Weak transcription	Small Intestine	intestine
28	chr5:118270400-118291800	Weak transcription	Fetal Intestine Large	intestine
29	chr5:118270600-118271600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:118270600-118271600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:118270600-118271800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr5:118270600-118271800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr5:118270800-118271600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr5:118270800-118271600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr5:118271200-118272800	Weak transcription	Ovary	ovary
36	chr5:118271200-118273200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:118271200-118274800	Weak transcription	Lung	lung
38	chr5:118271200-118277800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:118271400-118271600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr5:118271400-118273200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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