Variant report

Variant	rs17003245
Chromosome Location	chr4:79375566-79375567
allele	A/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:21)

rs_ID	r²[population]
rs1484329	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1484330	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003215	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003218	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003230	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003237	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28456030	1.00[AMR][1000 genomes]
rs2867069	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6837371	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6842607	0.80[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6852327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827988	1.00[AMR][1000 genomes]
rs7655401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7660612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7671908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7678622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7679013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7695148	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7695507	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79320000-79400200	Weak transcription	Psoas Muscle	Psoas
2	chr4:79333200-79391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:79343200-79431800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:79344200-79375600	Weak transcription	Fetal Stomach	stomach
5	chr4:79348400-79378000	Weak transcription	Right Ventricle	heart
6	chr4:79354000-79391000	Weak transcription	Left Ventricle	heart
7	chr4:79354000-79401600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:79354200-79391000	Weak transcription	Fetal Kidney	kidney
9	chr4:79354400-79385200	Weak transcription	Pancreas	Pancrea
10	chr4:79359800-79382800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:79361400-79376600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:79362400-79378000	Weak transcription	HSMMtube	muscle
13	chr4:79363200-79409800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:79363400-79375800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:79363400-79455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:79363800-79464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:79365600-79406400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:79365800-79388200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:79366200-79408200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:79366600-79382800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:79366800-79382200	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr4:79367200-79385400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:79368000-79385600	Weak transcription	Aorta	Aorta
24	chr4:79369200-79379000	Strong transcription	HepG2	liver
25	chr4:79369200-79382000	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr4:79369400-79397800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:79372000-79379200	Weak transcription	Fetal Heart	heart
28	chr4:79372600-79379400	Strong transcription	Fetal Intestine Large	intestine
29	chr4:79372600-79395000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:79373200-79375600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:79373600-79385400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:79374000-79397600	Weak transcription	Fetal Lung	lung
33	chr4:79374200-79376000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:79374200-79398800	Weak transcription	Esophagus	oesophagus
35	chr4:79374600-79391000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:79374800-79375600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:79374800-79376000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:79374800-79376200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:79374800-79377400	Strong transcription	Fetal Intestine Small	intestine
40	chr4:79375400-79375600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:79375400-79376200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
42	chr4:79375400-79376200	Enhancers	Placenta Amnion	Placenta Amnion

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