Variant report

Variant	rs8054997
Chromosome Location	chr16:12849881-12849882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28461718	0.91[AFR][1000 genomes]
rs28584880	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28674050	1.00[EUR][1000 genomes]
rs28816685	1.00[ASN][1000 genomes]
rs9940360	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1053617	chr16:12730958-12871639	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv869284	chr16:12735729-13533462	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1052802	chr16:12766360-12964248	Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1036493	chr16:12817416-12881078	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	esv2751547	chr16:12817920-12882336	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	esv2751548	chr16:12817920-12892036	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
12	nsv1052892	chr16:12824219-12881078	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
13	nsv525286	chr16:12826785-12878592	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
14	nsv571480	chr16:12826785-12878592	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
15	nsv571481	chr16:12826785-12880446	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
16	esv2751549	chr16:12829006-12880446	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12826600-12851000	Weak transcription	Brain Angular Gyrus	brain
2	chr16:12834800-12873600	Weak transcription	Aorta	Aorta
3	chr16:12835600-12863400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:12835600-12865200	Weak transcription	Ovary	ovary
5	chr16:12835600-12869800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr16:12835800-12851000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr16:12839000-12851400	Weak transcription	Spleen	Spleen
8	chr16:12839200-12852200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr16:12839200-12863600	Weak transcription	Fetal Intestine Large	intestine
10	chr16:12839200-12869000	Weak transcription	Primary B cells from cord blood	blood
11	chr16:12839600-12851600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr16:12839600-12854400	Weak transcription	Fetal Intestine Small	intestine
13	chr16:12839600-12865000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:12839600-12873600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:12842000-12851200	Weak transcription	Fetal Brain Female	brain
16	chr16:12843000-12851600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:12845200-12851400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr16:12845600-12851200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr16:12845600-12851200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr16:12846200-12850800	Weak transcription	Brain Substantia Nigra	brain
21	chr16:12846200-12851600	Weak transcription	K562	blood
22	chr16:12846400-12851000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr16:12846800-12856200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr16:12847600-12852200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr16:12847600-12865000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr16:12848000-12853400	Enhancers	Liver	Liver
27	chr16:12848000-12858400	Weak transcription	Gastric	stomach
28	chr16:12848200-12857000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:12848600-12854200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr16:12848800-12851400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr16:12849000-12850600	Genic enhancers	HepG2	liver
32	chr16:12849000-12850800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:12849000-12853600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:12849200-12851200	Weak transcription	Brain Hippocampus Middle	brain
35	chr16:12849200-12865000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr16:12849400-12851200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr16:12849400-12851800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr16:12849600-12851400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr16:12849600-12852000	Weak transcription	HSMM	muscle
40	chr16:12849600-12852400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr16:12849600-12865000	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links