Variant report

Variant	rs994186
Chromosome Location	chr4:79220748-79220749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17003090	0.87[AMR][1000 genomes]
rs17003102	1.00[AMR][1000 genomes]
rs17003104	1.00[AMR][1000 genomes]
rs17003105	0.87[AMR][1000 genomes]
rs17003107	0.87[AMR][1000 genomes]
rs17003109	0.87[AMR][1000 genomes]
rs1825417	1.00[AMR][1000 genomes]
rs55714031	0.87[AMR][1000 genomes]
rs59522692	1.00[AMR][1000 genomes]
rs61150533	0.87[AMR][1000 genomes]
rs61476761	0.87[AMR][1000 genomes]
rs6812049	0.87[AMR][1000 genomes]
rs6821829	0.87[AMR][1000 genomes]
rs6822437	0.87[AMR][1000 genomes]
rs6834011	1.00[AMR][1000 genomes]
rs6838026	0.87[AMR][1000 genomes]
rs6839334	1.00[AMR][1000 genomes]
rs6840751	0.89[AMR][1000 genomes]
rs6840763	1.00[AMR][1000 genomes]
rs6855248	0.87[AMR][1000 genomes]
rs728200	0.87[AMR][1000 genomes]
rs73827916	0.87[AMR][1000 genomes]
rs73827918	0.87[AMR][1000 genomes]
rs73827923	0.87[AMR][1000 genomes]
rs73827925	0.87[AMR][1000 genomes]
rs73827930	0.87[AMR][1000 genomes]
rs73827931	0.87[AMR][1000 genomes]
rs73827932	0.87[AMR][1000 genomes]
rs73827934	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827935	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827943	1.00[AMR][1000 genomes]
rs73827948	0.87[AMR][1000 genomes]
rs7667557	0.87[AMR][1000 genomes]
rs7687027	1.00[AMR][1000 genomes]
rs7687406	1.00[AMR][1000 genomes]
rs7688218	0.87[AMR][1000 genomes]
rs7690232	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	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
5	nsv829978	chr4:79144453-79291868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv818246	chr4:79184338-79221851	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79198600-79221000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:79198600-79241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:79208400-79220800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:79208400-79229200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:79208800-79236800	Weak transcription	Fetal Intestine Large	intestine
6	chr4:79214000-79223400	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:79215600-79223000	Weak transcription	Fetal Brain Male	brain
8	chr4:79215600-79229200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:79215800-79237600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:79215800-79243800	Weak transcription	Right Ventricle	heart
11	chr4:79217200-79222200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:79217600-79222200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:79217800-79221400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:79218000-79224600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:79218200-79220800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:79218200-79222800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:79218600-79220800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:79218600-79221200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:79218600-79221200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:79218600-79221200	Enhancers	Osteobl	bone
21	chr4:79218600-79221400	Enhancers	NHDF-Ad	bronchial
22	chr4:79218600-79229200	Weak transcription	Fetal Stomach	stomach
23	chr4:79218600-79230000	Weak transcription	Fetal Kidney	kidney
24	chr4:79219000-79221200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:79219200-79221800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:79219600-79220800	Enhancers	NH-A	brain
27	chr4:79219600-79220800	Enhancers	NHLF	lung
28	chr4:79219600-79221000	Enhancers	Hela-S3	cervix
29	chr4:79219600-79221200	Enhancers	Fetal Lung	lung
30	chr4:79219600-79221600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:79219800-79220800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:79219800-79221000	Enhancers	Fetal Heart	heart
33	chr4:79219800-79221200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr4:79220000-79221200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:79220000-79228200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:79220200-79220800	Enhancers	Fetal Intestine Small	intestine
37	chr4:79220200-79221000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:79220200-79221200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:79220200-79221200	Enhancers	Gastric	stomach
40	chr4:79220200-79221200	Enhancers	Lung	lung
41	chr4:79220200-79221200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr4:79220200-79221200	Genic enhancers	HepG2	liver
43	chr4:79220200-79221800	Enhancers	Pancreas	Pancrea
44	chr4:79220200-79222000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:79220200-79223000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr4:79220400-79220800	Enhancers	Placenta	Placenta
47	chr4:79220400-79220800	Weak transcription	Psoas Muscle	Psoas
48	chr4:79220400-79246600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:79220400-79246600	Weak transcription	HMEC	breast
50	chr4:79220600-79220800	Enhancers	Stomach Smooth Muscle	stomach

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