Variant report

Variant	rs28755896
Chromosome Location	chr4:186639947-186639948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10004511	0.80[AMR][1000 genomes]
rs10014995	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10017683	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10026539	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13127592	0.80[AMR][1000 genomes]
rs13132598	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13140562	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13140699	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13140805	0.80[AMR][1000 genomes]
rs13147441	0.96[ASN][1000 genomes]
rs28367124	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28384265	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28523636	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28617776	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9991266	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186622000-186651800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:186630000-186651600	Weak transcription	HSMM	muscle
3	chr4:186633000-186642000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:186633400-186640000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:186634000-186641600	Weak transcription	Fetal Stomach	stomach
6	chr4:186634000-186642400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:186634400-186645200	Enhancers	Liver	Liver
8	chr4:186634400-186651800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:186634800-186640400	Weak transcription	Aorta	Aorta
10	chr4:186637200-186640000	Enhancers	Pancreas	Pancrea
11	chr4:186637200-186642800	Enhancers	Left Ventricle	heart
12	chr4:186638000-186640800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr4:186638000-186641600	Weak transcription	Spleen	Spleen
14	chr4:186638000-186645000	Weak transcription	Right Atrium	heart
15	chr4:186638200-186642400	Weak transcription	Fetal Brain Female	brain
16	chr4:186638400-186640200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr4:186638400-186641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:186638400-186648200	Weak transcription	Brain Angular Gyrus	brain
19	chr4:186638400-186648200	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:186638600-186641200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:186638600-186651600	Weak transcription	Psoas Muscle	Psoas
22	chr4:186638800-186641000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:186638800-186641200	Weak transcription	Gastric	stomach
24	chr4:186639000-186640000	Weak transcription	Fetal Brain Male	brain
25	chr4:186639000-186642400	Enhancers	HepG2	liver
26	chr4:186639000-186642600	Weak transcription	HSMMtube	muscle
27	chr4:186639000-186644000	Weak transcription	HUVEC	blood vessel
28	chr4:186639000-186651000	Enhancers	Fetal Heart	heart
29	chr4:186639200-186640800	Weak transcription	Right Ventricle	heart
30	chr4:186639400-186640400	Enhancers	Stomach Mucosa	stomach
31	chr4:186639600-186640200	Enhancers	Fetal Lung	lung
32	chr4:186639600-186640600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:186639600-186640800	Enhancers	Fetal Intestine Large	intestine
34	chr4:186639600-186641000	Enhancers	Fetal Intestine Small	intestine
35	chr4:186639600-186641200	Enhancers	Fetal Kidney	kidney
36	chr4:186639600-186642600	Enhancers	Hela-S3	cervix
37	chr4:186639600-186645800	Enhancers	Rectal Smooth Muscle	rectum
38	chr4:186639800-186640000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr4:186639800-186640000	Enhancers	Stomach Smooth Muscle	stomach
40	chr4:186639800-186640200	Enhancers	Colon Smooth Muscle	Colon
41	chr4:186639800-186641000	Weak transcription	Lung	lung

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