Variant report

Variant	rs61378184
Chromosome Location	chr4:90659860-90659861
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	chr4:90653920..90656361-chr4:90657437..90659959,2	K562	blood:
2	chr4:90657557..90660350-chr4:90662058..90665018,2	K562	blood:

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

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

rs_ID	r²[population]
rs10516846	0.81[AFR][1000 genomes]
rs17016074	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17016083	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17016100	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17016107	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17016124	0.82[AFR][1000 genomes]
rs17016126	0.82[AFR][1000 genomes]
rs2882785	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34094566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34351491	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34356244	0.82[AFR][1000 genomes]
rs34747217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35683448	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35771728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35921673	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3796662	0.82[AFR][1000 genomes]
rs3857054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3857056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3857060	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4635786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57267227	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57928386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58877857	0.82[AFR][1000 genomes]
rs6532185	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532186	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532187	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532188	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6814056	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6825073	0.81[AFR][1000 genomes]
rs6842093	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72657741	0.81[AFR][1000 genomes]
rs7699596	0.81[AFR][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	esv2830400	chr4:90085456-90922432	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90642800-90668800	Weak transcription	Brain Substantia Nigra	brain
2	chr4:90646400-90661000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:90646800-90674000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:90648000-90668000	Weak transcription	Ovary	ovary
5	chr4:90648200-90673400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:90648600-90660000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:90648800-90667200	Weak transcription	Fetal Lung	lung
8	chr4:90649400-90674000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:90649400-90696400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:90650600-90660000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:90650600-90663000	Weak transcription	Dnd41	blood
12	chr4:90650800-90664200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:90658600-90660200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:90658600-90660200	Enhancers	Placenta	Placenta
15	chr4:90659400-90661600	Enhancers	Hela-S3	cervix
16	chr4:90659400-90662800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:90659600-90662200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:90659600-90672600	Weak transcription	HUVEC	blood vessel
19	chr4:90659600-90674000	Weak transcription	HMEC	breast

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