Variant report

Variant	rs17631799
Chromosome Location	chr4:151133778-151133779
allele	C/T
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:19)

rs_ID	r²[population]
rs10015813	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1002006	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10471053	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11099756	0.83[YRI][hapmap]
rs17631959	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17631971	0.87[AMR][1000 genomes]
rs17688421	0.87[AMR][1000 genomes]
rs2004467	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2054271	0.90[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2359940	0.87[AMR][1000 genomes]
rs28713632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35861079	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4240359	0.91[JPT][hapmap]
rs4411962	0.84[JPT][hapmap]
rs4696635	0.85[AMR][1000 genomes]
rs73858508	0.87[AMR][1000 genomes]
rs922121	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs922122	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9999860	1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.90[ASN][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	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151103200-151138000	Weak transcription	NH-A	brain
2	chr4:151114200-151154200	Weak transcription	Aorta	Aorta
3	chr4:151122200-151137800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:151123800-151136800	Weak transcription	Fetal Intestine Large	intestine
5	chr4:151128000-151137000	Weak transcription	Brain Angular Gyrus	brain
6	chr4:151128000-151138000	Weak transcription	Brain Substantia Nigra	brain
7	chr4:151128000-151138000	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:151128200-151137800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:151128400-151133800	Weak transcription	HSMM	muscle
10	chr4:151128400-151138200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:151128600-151137800	Weak transcription	Brain Anterior Caudate	brain
12	chr4:151129400-151137600	Weak transcription	Fetal Brain Male	brain
13	chr4:151130000-151134000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:151130400-151138000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:151130600-151133800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:151130600-151156000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:151132200-151134000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:151132200-151134000	Enhancers	NHDF-Ad	bronchial
19	chr4:151132200-151134400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:151132200-151134400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:151132200-151134400	Enhancers	A549	lung
22	chr4:151132200-151134600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:151132200-151134600	Enhancers	Fetal Heart	heart
24	chr4:151132200-151134800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:151132600-151133800	Enhancers	NHLF	lung
26	chr4:151132600-151134000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:151132600-151134400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:151132600-151138200	Weak transcription	Fetal Brain Female	brain
29	chr4:151132600-151143200	Weak transcription	Fetal Stomach	stomach
30	chr4:151132800-151133800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:151132800-151133800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:151132800-151134000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:151132800-151134000	Weak transcription	Left Ventricle	heart
34	chr4:151132800-151134000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr4:151132800-151134600	Enhancers	Placenta Amnion	Placenta Amnion
36	chr4:151132800-151134800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:151132800-151137400	Weak transcription	Brain Hippocampus Middle	brain
38	chr4:151132800-151150400	Weak transcription	Pancreas	Pancrea
39	chr4:151133000-151134600	Enhancers	NHEK	skin
40	chr4:151133200-151133800	Weak transcription	Placenta	Placenta
41	chr4:151133200-151135200	Enhancers	HMEC	breast
42	chr4:151133200-151135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr4:151133200-151138400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:151133200-151145600	Weak transcription	HSMMtube	muscle
45	chr4:151133200-151150400	Weak transcription	Right Ventricle	heart
46	chr4:151133400-151134000	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr4:151133400-151137800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:151133400-151138200	Weak transcription	Fetal Lung	lung
49	chr4:151133400-151150400	Weak transcription	Fetal Muscle Leg	muscle
50	chr4:151133600-151134400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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