Variant report

Variant	rs2998392
Chromosome Location	chr6:76147615-76147616
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12176377	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12202178	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1336043	0.88[AMR][1000 genomes]
rs1336044	0.88[AMR][1000 genomes]
rs1932523	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2464434	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2464435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703662	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2703665	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2703702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703714	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2808182	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2808183	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2808186	0.88[AMR][1000 genomes]
rs2808206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2808207	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2951917	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2951918	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2951919	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2951920	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2951922	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2951924	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2951925	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2951926	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2951929	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2951932	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2998365	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2998366	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2998367	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2998382	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2998384	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2998389	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2998390	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2998391	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2998393	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2998394	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6937196	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9341520	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9343290	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
7	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
8	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
9	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv886182	chr6:76096230-76194007	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76139200-76150200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:76145600-76148600	Enhancers	Duodenum Smooth Muscle	Duodenum
3	chr6:76145600-76149600	Enhancers	Rectal Smooth Muscle	rectum
4	chr6:76145600-76150400	Enhancers	A549	lung
5	chr6:76145800-76148000	Enhancers	Aorta	Aorta
6	chr6:76145800-76148800	Enhancers	Ovary	ovary
7	chr6:76146000-76148400	Enhancers	Fetal Stomach	stomach
8	chr6:76146000-76148400	Enhancers	Stomach Smooth Muscle	stomach
9	chr6:76146000-76148600	Enhancers	NHLF	lung
10	chr6:76146000-76148800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:76146000-76148800	Enhancers	Fetal Muscle Leg	muscle
12	chr6:76146200-76148000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:76146200-76148400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr6:76146400-76148400	Enhancers	HSMMtube	muscle
15	chr6:76146400-76171600	Weak transcription	Right Ventricle	heart
16	chr6:76146600-76148000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:76146600-76148000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:76146600-76148000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr6:76146600-76148000	Enhancers	HSMM	muscle
20	chr6:76146600-76148200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:76146800-76147800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:76146800-76147800	Weak transcription	Adipose Nuclei	Adipose
23	chr6:76146800-76148000	Flanking Active TSS	NHDF-Ad	bronchial
24	chr6:76146800-76150200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:76147000-76148000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:76147000-76148200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:76147000-76148400	Enhancers	NH-A	brain
28	chr6:76147000-76150400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr6:76147200-76148000	Enhancers	Fetal Heart	heart
30	chr6:76147200-76148000	Enhancers	HMEC	breast
31	chr6:76147200-76148000	Enhancers	NHEK	skin
32	chr6:76147200-76149800	Enhancers	Colon Smooth Muscle	Colon
33	chr6:76147400-76148000	Enhancers	Placenta	Placenta
34	chr6:76147400-76148200	Weak transcription	Left Ventricle	heart
35	chr6:76147400-76148400	Enhancers	Fetal Kidney	kidney
36	chr6:76147400-76148400	Enhancers	Placenta Amnion	Placenta Amnion
37	chr6:76147400-76148400	Enhancers	Osteobl	bone
38	chr6:76147400-76148600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:76147400-76150000	Weak transcription	Right Atrium	heart
40	chr6:76147400-76150400	Enhancers	Fetal Lung	lung
41	chr6:76147600-76148000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr6:76147600-76148200	Weak transcription	Brain Anterior Caudate	brain
43	chr6:76147600-76149000	Enhancers	Psoas Muscle	Psoas
44	chr6:76147600-76149800	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links