Variant report

Variant	rs6598578
Chromosome Location	chr16:47563341-47563342
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1200996	1.00[AFR][1000 genomes]
rs1420670	0.90[AFR][1000 genomes]
rs2857614	1.00[AFR][1000 genomes]
rs7194003	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv2758423	chr16:47316866-47606287	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv427983	chr16:47316866-47606287	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	esv1822041	chr16:47399460-47569732	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv572537	chr16:47411203-47599502	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv1794084	chr16:47478207-47676184	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv1059367	chr16:47524706-47586335	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv2761905	chr16:47524718-47586347	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47538200-47568800	Weak transcription	Brain Angular Gyrus	brain
2	chr16:47539200-47563800	Weak transcription	Hela-S3	cervix
3	chr16:47539200-47569600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr16:47539200-47580400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:47539400-47566400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr16:47539400-47599000	Weak transcription	NHEK	skin
7	chr16:47539800-47566600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr16:47546400-47566400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:47547200-47569800	Weak transcription	Fetal Kidney	kidney
10	chr16:47547600-47567000	Weak transcription	HSMM	muscle
11	chr16:47547800-47569400	Weak transcription	Brain Hippocampus Middle	brain
12	chr16:47548600-47566200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr16:47548600-47566200	Weak transcription	Thymus	Thymus
14	chr16:47548600-47566400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:47548600-47566400	Weak transcription	Lung	lung
16	chr16:47548800-47566200	Weak transcription	Esophagus	oesophagus
17	chr16:47548800-47566400	Weak transcription	Gastric	stomach
18	chr16:47548800-47566400	Weak transcription	Pancreas	Pancrea
19	chr16:47548800-47566400	Weak transcription	Spleen	Spleen
20	chr16:47548800-47571000	Weak transcription	Brain Substantia Nigra	brain
21	chr16:47548800-47605000	Weak transcription	Right Ventricle	heart
22	chr16:47549200-47565600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:47549200-47580600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr16:47549400-47566800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr16:47550600-47566400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:47550600-47566400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:47550600-47580400	Weak transcription	NHDF-Ad	bronchial
28	chr16:47551000-47573200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:47551200-47566000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr16:47551200-47566600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr16:47551200-47572400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr16:47551400-47566400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr16:47551400-47566400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr16:47551400-47566400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr16:47551400-47566800	Weak transcription	Colonic Mucosa	Colon
36	chr16:47551400-47567000	Weak transcription	Ovary	ovary
37	chr16:47551600-47566400	Weak transcription	Fetal Muscle Leg	muscle
38	chr16:47552000-47568600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:47552200-47573400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:47552400-47565600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:47552400-47566200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr16:47552600-47565600	Weak transcription	Dnd41	blood
43	chr16:47552600-47566200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr16:47552800-47566200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr16:47553200-47566200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr16:47553600-47566400	Weak transcription	Aorta	Aorta
47	chr16:47553600-47572000	Weak transcription	Colon Smooth Muscle	Colon
48	chr16:47553600-47572600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:47553600-47573800	Weak transcription	Left Ventricle	heart
50	chr16:47553600-47599000	Weak transcription	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links