Variant report

Variant	rs16939922
Chromosome Location	chr18:12848867-12848868
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105767252..105767935-chr18:12848222..12849114,2	NB4	blood:
2	chr18:12842848..12844844-chr18:12847185..12849843,2	K562	blood:
3	chr18:12847244..12848879-chr18:12882579..12885256,2	MCF-7	breast:
4	chr18:12846087..12850941-chr18:12851540..12856043,5	K562	blood:
5	chr18:12844145..12846750-chr18:12847501..12849925,3	MCF-7	breast:
6	chr18:12843344..12845815-chr18:12847400..12849843,3	K562	blood:
7	chr18:12838410..12841239-chr18:12848544..12850733,2	K562	blood:
8	chr18:12799895..12802487-chr18:12847227..12849522,2	K562	blood:
9	chr18:12846508..12849258-chr18:12882728..12885710,3	MCF-7	breast:
10	chr18:12799895..12802421-chr18:12847227..12849041,2	K562	blood:
11	chr18:12845628..12848100-chr18:12848205..12851298,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175354	Chromatin interaction
ENSG00000185024	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57491167	1.00[AMR][1000 genomes]
rs7232191	1.00[AMR][1000 genomes]
rs73404475	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8084146	1.00[AMR][1000 genomes]
rs8084203	1.00[AMR][1000 genomes]
rs8085013	1.00[AMR][1000 genomes]
rs8091049	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
7	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12821800-12851800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr18:12828400-12856000	Weak transcription	Fetal Kidney	kidney
3	chr18:12829000-12861200	Weak transcription	Fetal Brain Female	brain
4	chr18:12829000-12862600	Weak transcription	Brain Germinal Matrix	brain
5	chr18:12834200-12850200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:12838600-12851800	Weak transcription	Fetal Brain Male	brain
7	chr18:12838600-12852000	Weak transcription	Ovary	ovary
8	chr18:12838600-12854000	Weak transcription	Left Ventricle	heart
9	chr18:12838600-12856000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr18:12838600-12856200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr18:12838600-12857200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr18:12838600-12861800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:12838600-12862000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr18:12838600-12862400	Weak transcription	NH-A	brain
15	chr18:12838600-12862600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:12838800-12851800	Weak transcription	Fetal Lung	lung
17	chr18:12838800-12852600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr18:12838800-12854600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr18:12838800-12855600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:12838800-12879000	Weak transcription	Psoas Muscle	Psoas
21	chr18:12839400-12861200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr18:12839600-12851600	Weak transcription	HSMMtube	muscle
23	chr18:12839600-12852000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr18:12839600-12854800	Weak transcription	Fetal Intestine Small	intestine
25	chr18:12839600-12855200	Weak transcription	Fetal Intestine Large	intestine
26	chr18:12839600-12857200	Weak transcription	Aorta	Aorta
27	chr18:12839600-12858800	Weak transcription	Adipose Nuclei	Adipose
28	chr18:12839600-12861200	Weak transcription	Brain Hippocampus Middle	brain
29	chr18:12839600-12862600	Weak transcription	HSMM	muscle
30	chr18:12839800-12853400	Weak transcription	HepG2	liver
31	chr18:12840000-12863800	Weak transcription	Brain Anterior Caudate	brain
32	chr18:12840200-12851800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:12840400-12851600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr18:12840800-12849200	Weak transcription	NHEK	skin
35	chr18:12840800-12854400	Weak transcription	Hela-S3	cervix
36	chr18:12840800-12855400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr18:12840800-12858000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr18:12841000-12849200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr18:12841000-12851600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr18:12841000-12853800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr18:12841000-12855400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr18:12841000-12856000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr18:12841000-12859000	Weak transcription	Right Ventricle	heart
44	chr18:12841000-12863200	Weak transcription	Colonic Mucosa	Colon
45	chr18:12841200-12854400	Weak transcription	A549	lung
46	chr18:12841200-12855600	Weak transcription	Fetal Muscle Leg	muscle
47	chr18:12841400-12854200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr18:12841400-12855200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr18:12841400-12856200	Weak transcription	Pancreas	Pancrea
50	chr18:12841400-12863400	Weak transcription	Esophagus	oesophagus

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