Variant report

Variant	rs57778711
Chromosome Location	chr5:58647903-58647904
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs73092916	1.00[AMR][1000 genomes]
rs73092938	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092940	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092947	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092980	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092997	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093002	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1030716	chr5:58636116-58718362	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1032732	chr5:58637179-58689010	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1022160	chr5:58645805-58689010	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58635200-58652600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:58641200-58648000	Enhancers	A549	lung
3	chr5:58642200-58653200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:58642600-58652600	Weak transcription	Fetal Brain Male	brain
5	chr5:58642600-58652600	Weak transcription	Small Intestine	intestine
6	chr5:58643600-58652400	Weak transcription	Fetal Kidney	kidney
7	chr5:58644200-58650400	Enhancers	Fetal Heart	heart
8	chr5:58644800-58648600	Weak transcription	Hela-S3	cervix
9	chr5:58646000-58648400	Enhancers	Brain Hippocampus Middle	brain
10	chr5:58646000-58648400	Enhancers	Psoas Muscle	Psoas
11	chr5:58646200-58654400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:58646600-58648000	Enhancers	Fetal Brain Female	brain
13	chr5:58646600-58648000	Enhancers	Fetal Muscle Leg	muscle
14	chr5:58646600-58648000	Enhancers	Ovary	ovary
15	chr5:58646600-58648600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:58646600-58649400	Enhancers	Brain Substantia Nigra	brain
17	chr5:58646600-58649400	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr5:58646600-58650000	Enhancers	Fetal Lung	lung
19	chr5:58646800-58648600	Enhancers	Brain Angular Gyrus	brain
20	chr5:58647000-58648200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:58647000-58648200	Enhancers	Brain Cingulate Gyrus	brain
22	chr5:58647000-58648600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr5:58647000-58648800	Enhancers	Brain Anterior Caudate	brain
24	chr5:58647000-58649000	Enhancers	Fetal Stomach	stomach
25	chr5:58647200-58650400	Enhancers	Rectal Smooth Muscle	rectum
26	chr5:58647600-58648000	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr5:58647600-58648000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr5:58647600-58648600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:58647800-58648000	Enhancers	Right Atrium	heart
30	chr5:58647800-58648000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr5:58647800-58648000	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr5:58647800-58648200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:58647800-58648400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:58647800-58648400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:58647800-58648400	Enhancers	Left Ventricle	heart
36	chr5:58647800-58648600	Enhancers	Right Ventricle	heart
37	chr5:58647800-58649000	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links