Variant report

Variant	rs7192772
Chromosome Location	chr16:48331444-48331445
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48323778..48328194-chr16:48330285..48332445,4	K562	blood:
2	chr16:48326197..48328194-chr16:48330285..48332666,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs35374298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57503116	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57833761	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57937994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60654623	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60747434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60778835	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550078	1.00[AMR][1000 genomes]
rs73550084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550090	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550093	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550096	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550097	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550099	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551446	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551462	1.00[AMR][1000 genomes]
rs73551474	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551482	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73552007	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73555664	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562026	1.00[AMR][1000 genomes]
rs73562044	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562076	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048632	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053521	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056984	0.97[AFR][1000 genomes];1.00[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	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48313600-48331800	Strong transcription	Liver	Liver
2	chr16:48313600-48337200	Weak transcription	Gastric	stomach
3	chr16:48317400-48336400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:48321200-48336400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr16:48321200-48337200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr16:48321400-48333000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:48321400-48333400	Weak transcription	HSMMtube	muscle
8	chr16:48321400-48335800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr16:48321400-48337800	Weak transcription	Psoas Muscle	Psoas
10	chr16:48321400-48343200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr16:48321600-48333600	Weak transcription	Colon Smooth Muscle	Colon
12	chr16:48321600-48335800	Weak transcription	Fetal Heart	heart
13	chr16:48321600-48337000	Weak transcription	Brain Angular Gyrus	brain
14	chr16:48321600-48340400	Strong transcription	Primary T cells from cord blood	blood
15	chr16:48321600-48341600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr16:48321600-48341800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:48321600-48342000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr16:48321800-48341600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:48321800-48344800	Weak transcription	Fetal Brain Male	brain
20	chr16:48322400-48332400	Strong transcription	Adipose Nuclei	Adipose
21	chr16:48322600-48333400	Weak transcription	K562	blood
22	chr16:48322600-48335200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:48322800-48339800	Strong transcription	Primary B cells from cord blood	blood
24	chr16:48323400-48337200	Weak transcription	Aorta	Aorta
25	chr16:48323400-48341600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr16:48323600-48336400	Weak transcription	Right Ventricle	heart
27	chr16:48323600-48337200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr16:48324800-48333400	Weak transcription	Fetal Brain Female	brain
29	chr16:48324800-48333400	Weak transcription	NHDF-Ad	bronchial
30	chr16:48324800-48333600	Weak transcription	Hela-S3	cervix
31	chr16:48324800-48335600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr16:48324800-48337000	Weak transcription	Colonic Mucosa	Colon
33	chr16:48324800-48337000	Weak transcription	Small Intestine	intestine
34	chr16:48324800-48337000	Weak transcription	Spleen	Spleen
35	chr16:48325000-48331800	Weak transcription	Fetal Thymus	thymus
36	chr16:48325000-48333400	Weak transcription	Brain Substantia Nigra	brain
37	chr16:48325000-48336200	Weak transcription	HUVEC	blood vessel
38	chr16:48325000-48337200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:48325000-48350800	Weak transcription	NHLF	lung
40	chr16:48326000-48331800	Weak transcription	Brain Germinal Matrix	brain
41	chr16:48326400-48333600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr16:48326600-48341600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:48327200-48332400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr16:48327400-48334200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr16:48327400-48334600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr16:48327400-48335600	Strong transcription	Fetal Intestine Small	intestine
47	chr16:48327400-48344000	Strong transcription	HepG2	liver
48	chr16:48327600-48342000	Strong transcription	Fetal Intestine Large	intestine
49	chr16:48328800-48332200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr16:48328800-48332200	Strong transcription	HSMM	muscle

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