Variant report

Variant	rs57265663
Chromosome Location	chr3:52154070-52154071
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	chr3:52149366..52152201-chr3:52152396..52154883,2	K562	blood:
2	chr3:52152953..52156587-chr3:52160054..52162389,4	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs34991570	1.00[AMR][1000 genomes]
rs55931436	1.00[AMR][1000 genomes]
rs61589587	1.00[AMR][1000 genomes]
rs61734625	1.00[AMR][1000 genomes]
rs61738522	1.00[AMR][1000 genomes]
rs6789826	1.00[AMR][1000 genomes]
rs73835708	1.00[AMR][1000 genomes]
rs73835711	1.00[AMR][1000 genomes]
rs73835763	1.00[AMR][1000 genomes]
rs73835764	1.00[AMR][1000 genomes]
rs73835767	1.00[AMR][1000 genomes]
rs73835769	1.00[AMR][1000 genomes]
rs73835772	1.00[AMR][1000 genomes]
rs73835773	1.00[AMR][1000 genomes]
rs73835774	1.00[AMR][1000 genomes]
rs73837050	1.00[AMR][1000 genomes]
rs73837051	1.00[AMR][1000 genomes]
rs73838346	1.00[AMR][1000 genomes]
rs73838349	1.00[AMR][1000 genomes]
rs7644241	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
3	nsv876786	chr3:52041566-52236762	Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
6	nsv460537	chr3:52148233-52290550	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv590301	chr3:52148233-52290550	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52110600-52179400	Weak transcription	Brain Germinal Matrix	brain
2	chr3:52124200-52157200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:52126200-52160600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:52128600-52157000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:52129200-52155400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:52132200-52155200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:52133200-52162000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:52133400-52155000	Weak transcription	Osteobl	bone
9	chr3:52136800-52154400	Weak transcription	Hela-S3	cervix
10	chr3:52136800-52155000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:52136800-52156000	Weak transcription	A549	lung
12	chr3:52136800-52187200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:52139600-52154600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr3:52140400-52178200	Strong transcription	Dnd41	blood
15	chr3:52140600-52160800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:52140800-52155000	Weak transcription	Primary T cells from cord blood	blood
17	chr3:52141400-52154800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:52143000-52155000	Weak transcription	NH-A	brain
19	chr3:52143000-52156000	Weak transcription	Liver	Liver
20	chr3:52143200-52154600	Weak transcription	NHDF-Ad	bronchial
21	chr3:52143200-52156000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:52143400-52155400	Weak transcription	HSMM	muscle
23	chr3:52144200-52154600	Strong transcription	Fetal Stomach	stomach
24	chr3:52144200-52155000	Weak transcription	Stomach Mucosa	stomach
25	chr3:52144200-52155200	Weak transcription	HUVEC	blood vessel
26	chr3:52144200-52163600	Weak transcription	Aorta	Aorta
27	chr3:52144400-52154400	Weak transcription	Fetal Intestine Large	intestine
28	chr3:52145000-52154600	Weak transcription	Lung	lung
29	chr3:52145400-52154400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:52145400-52154600	Weak transcription	Right Ventricle	heart
31	chr3:52145800-52154600	Strong transcription	Fetal Intestine Small	intestine
32	chr3:52146200-52162200	Weak transcription	Gastric	stomach
33	chr3:52148600-52179800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr3:52149200-52154600	Weak transcription	HMEC	breast
35	chr3:52149200-52155000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:52149200-52156000	Weak transcription	Esophagus	oesophagus
37	chr3:52149400-52156600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:52150400-52155400	Enhancers	Brain Cingulate Gyrus	brain
39	chr3:52151000-52161000	Strong transcription	Thymus	Thymus
40	chr3:52151200-52157400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr3:52151200-52157600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr3:52151400-52154800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr3:52151400-52154800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr3:52151400-52155200	Enhancers	Brain Anterior Caudate	brain
45	chr3:52151400-52155400	Enhancers	Brain Angular Gyrus	brain
46	chr3:52151400-52155600	Enhancers	Brain Hippocampus Middle	brain
47	chr3:52151400-52155600	Enhancers	Brain Substantia Nigra	brain
48	chr3:52151600-52160000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr3:52151800-52155200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr3:52152200-52154800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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