Variant report

Variant	rs551055
Chromosome Location	chr4:74981560-74981561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74922007..74923976-chr4:74981041..74982944,2	K562	blood:
2	chr4:74981349..74984349-chr4:75022294..75025435,3	K562	blood:
3	chr4:74904097..74906809-chr4:74980983..74983920,2	K562	blood:

Variant related genes	Relation type
ENSG00000269559	Chromatin interaction
ENSG00000163738	Chromatin interaction
ENSG00000163734	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1246766	1.00[AMR][1000 genomes]
rs1261907	1.00[AMR][1000 genomes]
rs164755	1.00[AMR][1000 genomes]
rs164756	1.00[AMR][1000 genomes]
rs16850399	1.00[AMR][1000 genomes]
rs16850536	1.00[AMR][1000 genomes]
rs191613	1.00[AMR][1000 genomes]
rs2573028	1.00[AMR][1000 genomes]
rs352039	1.00[AMR][1000 genomes]
rs352040	1.00[AMR][1000 genomes]
rs352049	1.00[AMR][1000 genomes]
rs472689	1.00[AMR][1000 genomes]
rs486154	1.00[AMR][1000 genomes]
rs488994	1.00[AMR][1000 genomes]
rs499451	1.00[AMR][1000 genomes]
rs505197	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs526993	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs539431	1.00[AMR][1000 genomes]
rs543325	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs550282	1.00[AMR][1000 genomes]
rs570922	1.00[AMR][1000 genomes]
rs571068	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	25 gene(s)	inside rSNPs	diseases
4	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74972000-74982000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:74975800-74981800	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:74975800-74982600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:74976000-74982200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:74976000-74982600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:74976000-74984400	Enhancers	Hela-S3	cervix
7	chr4:74977200-74982200	Weak transcription	Fetal Intestine Small	intestine
8	chr4:74977200-74983000	Weak transcription	Fetal Intestine Large	intestine
9	chr4:74977400-74982400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:74978200-74981800	Weak transcription	Right Ventricle	heart
11	chr4:74978200-74982200	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:74978200-74982600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:74978400-74981800	Weak transcription	Brain Anterior Caudate	brain
14	chr4:74978400-74981800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:74978400-74982200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr4:74978400-74982200	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:74978400-74982200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:74978400-74982200	Weak transcription	Stomach Mucosa	stomach
19	chr4:74978400-74982400	Weak transcription	Adipose Nuclei	Adipose
20	chr4:74978400-74982800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:74978400-74982800	Weak transcription	Fetal Thymus	thymus
22	chr4:74978400-74983200	Weak transcription	Colonic Mucosa	Colon
23	chr4:74978400-74983200	Weak transcription	Left Ventricle	heart
24	chr4:74978400-74984400	Weak transcription	Aorta	Aorta
25	chr4:74978400-74984400	Weak transcription	Pancreas	Pancrea
26	chr4:74978400-74984400	Weak transcription	Right Atrium	heart
27	chr4:74978600-74982200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr4:74978600-74982200	Weak transcription	Small Intestine	intestine
29	chr4:74978600-74982800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:74978600-74982800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:74978600-74982800	Weak transcription	HSMMtube	muscle
32	chr4:74978800-74982200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:74979800-74982600	Enhancers	A549	lung
34	chr4:74979800-74982800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr4:74980400-74981800	Weak transcription	HUVEC	blood vessel
36	chr4:74980400-74982800	Weak transcription	HSMM	muscle
37	chr4:74980600-74982000	Weak transcription	NH-A	brain
38	chr4:74980600-74982200	Weak transcription	NHLF	lung
39	chr4:74980600-74982400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:74980600-74988800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:74980800-74981600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:74980800-74981800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:74980800-74982000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:74980800-74982000	Weak transcription	Osteobl	bone
45	chr4:74980800-74982200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:74980800-74982200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:74980800-74982200	Weak transcription	NHDF-Ad	bronchial
48	chr4:74980800-74983200	Weak transcription	Placenta	Placenta
49	chr4:74981000-74982200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr4:74981000-74983800	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links