Variant report

Variant	rs57765240
Chromosome Location	chr4:186657479-186657480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55747235	1.00[AMR][1000 genomes]
rs58138803	1.00[AMR][1000 genomes]
rs58207663	1.00[AMR][1000 genomes]
rs73873309	1.00[AMR][1000 genomes]
rs73873311	1.00[AMR][1000 genomes]
rs73873317	1.00[AMR][1000 genomes]
rs73873319	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1023412	chr4:186613289-186707428	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv537421	chr4:186613289-186707428	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186642800-186657800	Weak transcription	Gastric	stomach
2	chr4:186643800-186657800	Weak transcription	Fetal Brain Female	brain
3	chr4:186648400-186658800	Weak transcription	Brain Germinal Matrix	brain
4	chr4:186649200-186659000	Weak transcription	Fetal Kidney	kidney
5	chr4:186650800-186658600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:186651000-186660000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:186652000-186657800	Weak transcription	Brain Angular Gyrus	brain
8	chr4:186652000-186658000	Weak transcription	Esophagus	oesophagus
9	chr4:186652000-186658800	Weak transcription	Lung	lung
10	chr4:186652000-186659000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:186652200-186657800	Weak transcription	Ovary	ovary
12	chr4:186652200-186658400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:186652200-186658400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:186652200-186659000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:186652200-186659600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:186652400-186657600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:186652400-186657800	Weak transcription	Stomach Mucosa	stomach
18	chr4:186652400-186658000	Weak transcription	HSMM	muscle
19	chr4:186652400-186658600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:186652400-186658600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:186652400-186658600	Weak transcription	NH-A	brain
22	chr4:186652400-186660000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:186652600-186658200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:186652600-186658800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:186652600-186661400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:186652800-186657800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr4:186653000-186657800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:186653800-186657600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:186654200-186662200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr4:186654400-186657800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr4:186654400-186658200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:186654800-186658200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:186654800-186658800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:186655000-186658200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:186655200-186659000	Weak transcription	HSMMtube	muscle
36	chr4:186655200-186660000	Weak transcription	HepG2	liver
37	chr4:186655200-186701400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:186655400-186657600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:186655400-186660200	Enhancers	Fetal Stomach	stomach
40	chr4:186655800-186658200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:186655800-186658800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:186655800-186658800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:186655800-186658800	Enhancers	Pancreas	Pancrea
44	chr4:186655800-186667600	Weak transcription	Fetal Intestine Small	intestine
45	chr4:186656000-186657800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr4:186656000-186659000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:186656000-186659000	Enhancers	Right Atrium	heart
48	chr4:186656200-186659000	Enhancers	Liver	Liver
49	chr4:186656200-186659200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr4:186656200-186661400	Weak transcription	Primary B cells from peripheral blood	blood

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