Variant report

Variant	rs68145475
Chromosome Location	chr4:74475794-74475795
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	chr4:74475388..74478250-chr4:74479848..74482817,2	K562	blood:
2	chr4:74475388..74478250-chr4:74479848..74483850,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10518115	0.86[AMR][1000 genomes]
rs1074085	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1247593	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1247651	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247670	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247671	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12508661	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13133747	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13144390	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1528916	0.81[EUR][1000 genomes]
rs1528917	0.81[EUR][1000 genomes]
rs1528918	0.81[EUR][1000 genomes]
rs16849675	0.81[EUR][1000 genomes]
rs16849677	0.81[EUR][1000 genomes]
rs17192413	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17805623	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28658027	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34123018	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34773614	0.81[EUR][1000 genomes]
rs34832471	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34859660	0.81[EUR][1000 genomes]
rs4694626	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6838329	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72649103	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7665563	0.81[EUR][1000 genomes]
rs7665972	0.81[EUR][1000 genomes]
rs7667019	0.81[EUR][1000 genomes]
rs7667185	0.81[EUR][1000 genomes]
rs7695792	0.81[EUR][1000 genomes]
rs7695946	0.81[EUR][1000 genomes]
rs9997572	0.88[ASN][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74464200-74476400	Enhancers	Stomach Mucosa	stomach
2	chr4:74464200-74477200	Enhancers	Fetal Intestine Small	intestine
3	chr4:74465400-74483000	Weak transcription	Esophagus	oesophagus
4	chr4:74465800-74476000	Weak transcription	Placenta	Placenta
5	chr4:74469800-74477200	Enhancers	HepG2	liver
6	chr4:74470800-74476000	Enhancers	Fetal Intestine Large	intestine
7	chr4:74472200-74485600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:74472400-74477800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:74472800-74476200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:74472800-74483000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:74473000-74476600	Enhancers	NHEK	skin
12	chr4:74473200-74476000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:74473200-74476200	Weak transcription	Gastric	stomach
14	chr4:74473400-74476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:74473400-74476400	Enhancers	Dnd41	blood
16	chr4:74473600-74475800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:74473600-74476000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr4:74474200-74476600	Enhancers	HSMM	muscle
19	chr4:74474200-74477000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:74474200-74477200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:74474400-74476000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:74474400-74476200	Enhancers	Rectal Smooth Muscle	rectum
23	chr4:74474400-74476400	Enhancers	Colon Smooth Muscle	Colon
24	chr4:74474400-74477000	Genic enhancers	Thymus	Thymus
25	chr4:74474400-74477400	Genic enhancers	HMEC	breast
26	chr4:74474400-74477800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:74474400-74479800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:74474400-74481400	Genic enhancers	Fetal Thymus	thymus
29	chr4:74474600-74477600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:74474800-74475800	Enhancers	Osteobl	bone
31	chr4:74474800-74476000	Weak transcription	Pancreas	Pancrea
32	chr4:74474800-74477400	Enhancers	A549	lung
33	chr4:74474800-74483200	Weak transcription	Small Intestine	intestine
34	chr4:74475000-74476400	Enhancers	Hela-S3	cervix
35	chr4:74475200-74475800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:74475200-74475800	Enhancers	Fetal Kidney	kidney
37	chr4:74475400-74475800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr4:74475400-74475800	Enhancers	HSMMtube	muscle
39	chr4:74475400-74476200	Enhancers	Fetal Lung	lung
40	chr4:74475400-74476200	Enhancers	Stomach Smooth Muscle	stomach
41	chr4:74475600-74475800	Bivalent Enhancer	HUVEC	blood vessel
42	chr4:74475600-74476200	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr4:74475600-74477800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr4:74475600-74478400	Weak transcription	Colonic Mucosa	Colon
45	chr4:74475600-74482600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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