Variant report

Variant	rs8053521
Chromosome Location	chr16:48342278-48342279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48341376..48343288-chr16:48345448..48347987,2	K562	blood:
2	chr16:48334177..48335883-chr16:48341633..48344625,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs34567511	1.00[CHD][hapmap]
rs35374298	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3743989	1.00[CHD][hapmap]
rs57503116	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57833761	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57937994	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60654623	1.00[AMR][1000 genomes]
rs60747434	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60778835	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7192772	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550078	1.00[AMR][1000 genomes]
rs73550084	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550090	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550093	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550096	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550097	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550099	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551446	1.00[AMR][1000 genomes]
rs73551462	1.00[AMR][1000 genomes]
rs73551474	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551482	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73552007	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73555664	1.00[AMR][1000 genomes]
rs73562026	1.00[AMR][1000 genomes]
rs73562044	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562047	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562067	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562076	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048632	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056369	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056984	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8062222	1.00[CHD][hapmap]
rs9936892	1.00[CHD][hapmap]

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	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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 target site	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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 target site	34 gene(s)	inside rSNPs	diseases
3	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	29 gene(s)	inside rSNPs	diseases
4	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2758424	chr16:48329437-48479754	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv2758645	chr16:48329437-48479754	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48321400-48343200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr16:48321800-48344800	Weak transcription	Fetal Brain Male	brain
3	chr16:48325000-48350800	Weak transcription	NHLF	lung
4	chr16:48327400-48344000	Strong transcription	HepG2	liver
5	chr16:48329800-48343000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr16:48329800-48344400	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr16:48330200-48343600	Strong transcription	Duodenum Mucosa	Duodenum
8	chr16:48330200-48347800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:48330400-48344200	Strong transcription	Placenta	Placenta
10	chr16:48330400-48344800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr16:48330400-48354600	Weak transcription	Stomach Mucosa	stomach
12	chr16:48333000-48343200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr16:48333200-48344800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr16:48333600-48345600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:48334600-48350800	Weak transcription	NH-A	brain
16	chr16:48334800-48361400	Strong transcription	Liver	Liver
17	chr16:48335800-48344000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:48336200-48342400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr16:48337400-48343400	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr16:48337400-48343600	Weak transcription	Hela-S3	cervix
21	chr16:48337400-48344800	Weak transcription	K562	blood
22	chr16:48337800-48343600	Weak transcription	Right Ventricle	heart
23	chr16:48338000-48343400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr16:48338000-48344600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr16:48338000-48344800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr16:48338000-48351000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr16:48338200-48344600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr16:48338200-48344800	Weak transcription	HUVEC	blood vessel
29	chr16:48338400-48350800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr16:48338600-48352600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr16:48338600-48352600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr16:48338600-48381200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr16:48339000-48343600	Weak transcription	Psoas Muscle	Psoas
34	chr16:48339000-48345600	Weak transcription	Aorta	Aorta
35	chr16:48339000-48347200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr16:48339200-48343600	Weak transcription	Small Intestine	intestine
37	chr16:48339200-48344400	Weak transcription	Ovary	ovary
38	chr16:48339200-48345600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr16:48339400-48342600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr16:48339400-48344200	Weak transcription	Lung	lung
41	chr16:48339400-48344200	Weak transcription	Thymus	Thymus
42	chr16:48339400-48346600	Weak transcription	Gastric	stomach
43	chr16:48339400-48368000	Weak transcription	Colonic Mucosa	Colon
44	chr16:48339600-48343400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr16:48339800-48344000	Weak transcription	Fetal Thymus	thymus
46	chr16:48340200-48346400	Weak transcription	NHEK	skin
47	chr16:48340400-48343000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr16:48340400-48345200	ZNF genes & repeats	Primary T cells from cord blood	blood
49	chr16:48340600-48344600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr16:48340800-48344000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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