Variant report

Variant	rs57038345
Chromosome Location	chr5:167835471-167835472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:167835375-167835621	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
WWC1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10050875	1.00[AMR][1000 genomes]
rs10051004	1.00[AMR][1000 genomes]
rs10052800	1.00[AMR][1000 genomes]
rs10064050	1.00[AMR][1000 genomes]
rs10065566	1.00[AMR][1000 genomes]
rs10072769	1.00[AMR][1000 genomes]
rs57509071	1.00[AMR][1000 genomes]
rs60286732	1.00[AMR][1000 genomes]
rs73383505	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	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023985	chr5:167756193-168285807	Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv537941	chr5:167756193-168285807	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3444818	chr5:167770667-167902204	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167809400-167835600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:167812200-167835600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:167812400-167836800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:167812600-167896400	Weak transcription	Colonic Mucosa	Colon
5	chr5:167824200-167836600	Weak transcription	Right Atrium	heart
6	chr5:167824400-167839400	Strong transcription	Fetal Intestine Small	intestine
7	chr5:167824400-167849200	Strong transcription	Liver	Liver
8	chr5:167825000-167835600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:167825000-167857000	Weak transcription	Fetal Kidney	kidney
10	chr5:167826400-167838400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:167827000-167840600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:167828200-167870800	Weak transcription	Small Intestine	intestine
13	chr5:167829000-167896800	Weak transcription	Stomach Mucosa	stomach
14	chr5:167829600-167836600	Weak transcription	Fetal Lung	lung
15	chr5:167829600-167838200	Weak transcription	Esophagus	oesophagus
16	chr5:167830800-167856600	Strong transcription	Fetal Intestine Large	intestine
17	chr5:167831400-167835600	Weak transcription	Ovary	ovary
18	chr5:167831400-167836600	Weak transcription	Fetal Brain Male	brain
19	chr5:167831400-167845000	Weak transcription	Brain Germinal Matrix	brain
20	chr5:167831400-167857000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:167831400-167863200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:167831600-167835600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:167831600-167836400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:167831600-167836600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:167831800-167836200	Weak transcription	Brain Anterior Caudate	brain
26	chr5:167831800-167844800	Weak transcription	Left Ventricle	heart
27	chr5:167831800-167847200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:167831800-167853400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:167832000-167835600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:167832000-167835800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:167832000-167836200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:167832000-167836400	Weak transcription	Fetal Heart	heart
33	chr5:167832200-167835800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:167832200-167835800	Weak transcription	Brain Angular Gyrus	brain
35	chr5:167832200-167836000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:167832200-167836000	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:167832200-167836400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:167832400-167835600	Weak transcription	Osteobl	bone
39	chr5:167832400-167836200	Strong transcription	NHEK	skin
40	chr5:167832400-167837200	Strong transcription	Gastric	stomach
41	chr5:167832400-167857000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:167832400-167860800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:167832600-167835600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:167832600-167835600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:167832600-167835600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:167832600-167835600	Weak transcription	HMEC	breast
47	chr5:167833000-167839800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:167833200-167835800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:167833200-167847000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:167833600-167835800	Weak transcription	Hela-S3	cervix

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