Variant report

Variant	rs58783539
Chromosome Location	chr5:41798601-41798602
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	chr5:41775017..41777885-chr5:41797884..41800020,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12109484	1.00[AMR][1000 genomes]
rs55957622	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56347183	0.81[AMR][1000 genomes]
rs57536348	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57555512	0.81[AMR][1000 genomes]
rs58511292	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59074523	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59194359	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59365840	0.81[AMR][1000 genomes]
rs60432772	0.81[AMR][1000 genomes]
rs60491534	1.00[AMR][1000 genomes]
rs61303374	0.81[AMR][1000 genomes]
rs6873842	1.00[AMR][1000 genomes]
rs6876042	1.00[AMR][1000 genomes]
rs6897007	1.00[AMR][1000 genomes]
rs73076205	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73076279	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73078212	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73087787	1.00[AMR][1000 genomes]
rs73089508	0.81[AMR][1000 genomes]
rs73752207	0.81[AMR][1000 genomes]
rs73752214	0.81[AMR][1000 genomes]
rs7732111	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41731400-41800400	Weak transcription	Small Intestine	intestine
2	chr5:41735800-41800400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:41739400-41799600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:41756200-41813800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:41759800-41800400	Weak transcription	Esophagus	oesophagus
6	chr5:41761600-41804600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:41762000-41799600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:41778200-41838200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:41780000-41800200	Weak transcription	Fetal Intestine Large	intestine
10	chr5:41785800-41800000	Weak transcription	Fetal Brain Male	brain
11	chr5:41788600-41800000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:41789600-41808200	Weak transcription	Fetal Intestine Small	intestine
13	chr5:41790200-41801400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:41790200-41801600	Strong transcription	Primary T cells from cord blood	blood
15	chr5:41790400-41814000	Weak transcription	Psoas Muscle	Psoas
16	chr5:41791000-41801200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:41791600-41807600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr5:41792200-41801000	Strong transcription	Primary B cells from cord blood	blood
19	chr5:41792200-41801400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:41792400-41799000	Strong transcription	Fetal Thymus	thymus
21	chr5:41792600-41798800	Strong transcription	GM12878-XiMat	blood
22	chr5:41792600-41800400	Weak transcription	Gastric	stomach
23	chr5:41793000-41800200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:41793400-41800400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr5:41793400-41801200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr5:41793400-41810400	Weak transcription	Spleen	Spleen
27	chr5:41794400-41799000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:41795200-41800000	Weak transcription	Adipose Nuclei	Adipose
29	chr5:41795200-41800400	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:41795200-41800400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:41795200-41805800	Weak transcription	Brain Angular Gyrus	brain
32	chr5:41795400-41800000	Weak transcription	Brain Germinal Matrix	brain
33	chr5:41795400-41800200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:41795400-41800400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:41795400-41800400	Weak transcription	Right Ventricle	heart
36	chr5:41795400-41809400	Weak transcription	Fetal Kidney	kidney
37	chr5:41795400-41809800	Weak transcription	Brain Anterior Caudate	brain
38	chr5:41795400-41813000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:41795400-41816200	Weak transcription	Colon Smooth Muscle	Colon
40	chr5:41795400-41835800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:41795600-41799400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:41795600-41799600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:41795600-41799800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:41795600-41800000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr5:41795600-41800000	Weak transcription	Brain Substantia Nigra	brain
46	chr5:41795600-41800000	Weak transcription	Fetal Stomach	stomach
47	chr5:41795600-41800000	Weak transcription	Thymus	Thymus
48	chr5:41795600-41800200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr5:41795600-41800400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:41795600-41800400	Weak transcription	Aorta	Aorta

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