Variant report

Variant	rs12443573
Chromosome Location	chr16:65154036-65154037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12051500	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12232421	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16968496	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16968497	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16968508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7193430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7195772	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7200327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833260	chr16:65050647-65218759	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv34131	chr16:65137094-65379496	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65151200-65154400	Active TSS	Fetal Brain Female	brain
2	chr16:65151800-65154600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr16:65151800-65155000	Flanking Active TSS	HUVEC	blood vessel
4	chr16:65152000-65159400	Active TSS	Ovary	ovary
5	chr16:65152400-65155800	Active TSS	Fetal Brain Male	brain
6	chr16:65153000-65154600	Active TSS	Placenta	Placenta
7	chr16:65153000-65154800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
8	chr16:65153000-65155600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:65153200-65154600	Active TSS	Fetal Stomach	stomach
10	chr16:65153200-65156400	Active TSS	Stomach Smooth Muscle	stomach
11	chr16:65153200-65156600	Active TSS	NH-A	brain
12	chr16:65153200-65157800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:65153200-65158600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:65153200-65158600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:65153400-65156200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:65153400-65156400	Bivalent/Poised TSS	Fetal Lung	lung
17	chr16:65153400-65157600	Active TSS	NHLF	lung
18	chr16:65153400-65158600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
19	chr16:65153600-65154200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr16:65153600-65154200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
21	chr16:65153600-65154200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr16:65153600-65154200	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr16:65153600-65156200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:65153600-65157800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:65153600-65158000	Active TSS	HSMM	muscle
26	chr16:65153600-65158000	Active TSS	HSMMtube	muscle
27	chr16:65153600-65158000	Active TSS	NHDF-Ad	bronchial
28	chr16:65153800-65154200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr16:65153800-65154200	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr16:65153800-65154200	Flanking Active TSS	HMEC	breast
31	chr16:65153800-65154400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
32	chr16:65153800-65154400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
33	chr16:65153800-65154400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
34	chr16:65153800-65154400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr16:65153800-65154600	Active TSS	Adipose Nuclei	Adipose
36	chr16:65153800-65154600	Active TSS	Fetal Muscle Trunk	muscle
37	chr16:65153800-65156400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr16:65153800-65156400	Bivalent/Poised TSS	NHEK	skin
39	chr16:65153800-65157800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:65153800-65158000	Active TSS	Aorta	Aorta
41	chr16:65153800-65158200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr16:65153800-65158200	Active TSS	Brain Cingulate Gyrus	brain
43	chr16:65153800-65158400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr16:65154000-65154200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:65154000-65154200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
46	chr16:65154000-65154200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr16:65154000-65154200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
48	chr16:65154000-65154200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr16:65154000-65154200	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr16:65154000-65154200	Flanking Active TSS	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links