Variant report

Variant	rs13147441
Chromosome Location	chr4:186638268-186638269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10014865	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs10014995	0.84[CEU][hapmap];0.86[CHD][hapmap];0.82[ASN][1000 genomes]
rs10017683	0.83[CEU][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs10031144	0.82[CEU][hapmap]
rs13140562	0.84[ASN][1000 genomes]
rs13140699	0.84[CEU][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs28367124	0.95[ASN][1000 genomes]
rs28384265	0.95[ASN][1000 genomes]
rs28523636	0.84[ASN][1000 genomes]
rs28617776	0.83[ASN][1000 genomes]
rs28755896	0.96[ASN][1000 genomes]
rs9991266	0.85[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	chr4:186627200-186639800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:186630000-186651600	Weak transcription	HSMM	muscle
4	chr4:186632200-186639800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:186633000-186642000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:186633400-186640000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:186634000-186641600	Weak transcription	Fetal Stomach	stomach
8	chr4:186634000-186642400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:186634400-186645200	Enhancers	Liver	Liver
10	chr4:186634400-186651800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:186634800-186640400	Weak transcription	Aorta	Aorta
12	chr4:186635400-186639600	Weak transcription	Hela-S3	cervix
13	chr4:186635800-186638400	Weak transcription	Gastric	stomach
14	chr4:186636000-186639000	Enhancers	Stomach Mucosa	stomach
15	chr4:186636200-186639600	Weak transcription	Fetal Intestine Large	intestine
16	chr4:186636400-186639000	Weak transcription	HepG2	liver
17	chr4:186637200-186638400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:186637200-186638800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:186637200-186639000	Enhancers	Fetal Brain Male	brain
20	chr4:186637200-186639200	Enhancers	Right Ventricle	heart
21	chr4:186637200-186640000	Enhancers	Pancreas	Pancrea
22	chr4:186637200-186642800	Enhancers	Left Ventricle	heart
23	chr4:186637800-186638400	Strong transcription	Fetal Intestine Small	intestine
24	chr4:186637800-186638400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr4:186637800-186638400	Enhancers	Fetal Muscle Leg	muscle
26	chr4:186637800-186639000	Enhancers	HUVEC	blood vessel
27	chr4:186638000-186638400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:186638000-186638400	Weak transcription	Fetal Kidney	kidney
29	chr4:186638000-186638600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:186638000-186639200	Weak transcription	Lung	lung
31	chr4:186638000-186640800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr4:186638000-186641600	Weak transcription	Spleen	Spleen
33	chr4:186638000-186645000	Weak transcription	Right Atrium	heart
34	chr4:186638200-186638400	Enhancers	Brain Angular Gyrus	brain
35	chr4:186638200-186638400	Enhancers	Colon Smooth Muscle	Colon
36	chr4:186638200-186638600	Enhancers	Fetal Heart	heart
37	chr4:186638200-186639000	Strong transcription	HSMMtube	muscle
38	chr4:186638200-186639600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:186638200-186639600	Weak transcription	Fetal Lung	lung
40	chr4:186638200-186639600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:186638200-186642400	Weak transcription	Fetal Brain Female	brain

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