Variant report

Variant	rs58822138
Chromosome Location	chr4:76587557-76587558
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	chr4:76584918..76589893-chr4:76647342..76651400,4	K562	blood:
2	chr4:76585902..76588334-chr4:76648159..76650846,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138757	Chromatin interaction
ENSG00000138768	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs17000766	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801838	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2017607	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2037012	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41398350	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56084244	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56151783	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56308338	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56693719	1.00[AMR][1000 genomes]
rs56728961	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57008925	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57099382	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58140957	1.00[AMR][1000 genomes]
rs59405026	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59448225	0.94[AMR][1000 genomes]
rs59684133	0.86[AFR][1000 genomes]
rs60332325	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66606482	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67662392	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6812339	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs68155345	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6817228	1.00[ASN][1000 genomes]
rs6818849	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821144	1.00[AMR][1000 genomes]
rs6823013	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6828587	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6841290	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841486	1.00[ASN][1000 genomes]
rs6843244	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857983	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72649405	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72649420	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879496	chr4:76493256-76620803	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv879497	chr4:76519096-76620803	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76556200-76590000	Weak transcription	Small Intestine	intestine
2	chr4:76565600-76588600	Strong transcription	Fetal Thymus	thymus
3	chr4:76565600-76588800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:76566200-76596600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:76566400-76593800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:76567000-76588200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:76567000-76588200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr4:76567400-76588400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr4:76567400-76588400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr4:76567400-76596600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:76567600-76588000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr4:76567600-76588200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr4:76567600-76588400	Strong transcription	Dnd41	blood
14	chr4:76568000-76588600	Strong transcription	Primary B cells from cord blood	blood
15	chr4:76568600-76588600	Strong transcription	Primary B cells from peripheral blood	blood
16	chr4:76568800-76587800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:76569800-76588600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:76570000-76588200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:76571800-76590000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:76572000-76590000	Weak transcription	Pancreas	Pancrea
21	chr4:76572000-76592200	Weak transcription	Psoas Muscle	Psoas
22	chr4:76572000-76594400	Weak transcription	Aorta	Aorta
23	chr4:76573800-76596200	Weak transcription	Colonic Mucosa	Colon
24	chr4:76574000-76596400	Weak transcription	Right Ventricle	heart
25	chr4:76576000-76588000	Strong transcription	K562	blood
26	chr4:76578000-76592200	Weak transcription	Spleen	Spleen
27	chr4:76578000-76596400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:76578000-76597000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:76578000-76597000	Weak transcription	Esophagus	oesophagus
30	chr4:76579000-76594000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:76579600-76588600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:76581000-76587800	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:76581000-76594000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:76581400-76588000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:76582200-76588000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:76583400-76591000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr4:76583400-76595800	Weak transcription	Brain Hippocampus Middle	brain
38	chr4:76583400-76595800	Weak transcription	Fetal Kidney	kidney
39	chr4:76583400-76596200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:76583400-76596200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr4:76583600-76594200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:76583600-76594200	Weak transcription	Adipose Nuclei	Adipose
43	chr4:76583600-76596200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:76583800-76587800	Weak transcription	Osteobl	bone
45	chr4:76583800-76596200	Weak transcription	Brain Substantia Nigra	brain
46	chr4:76584000-76588200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr4:76584200-76588000	Enhancers	Fetal Heart	heart
48	chr4:76584400-76587800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr4:76584400-76592200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:76584400-76592600	Weak transcription	H9 Cell Line	embryonic stem cell

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