Variant report

Variant	rs4254322
Chromosome Location	chr16:81813553-81813554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81812978..81813631-chr16:81907214..81907808,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11643895	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4319763	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4398100	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4410068	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4476173	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4888174	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56704282	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7198169	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
2	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3372455	chr16:81810851-81815149	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3343864	chr16:81812151-81814049	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4254322	ADAD2	cis	parietal	SCAN
rs4254322	MBTPS1	cis	cerebellum	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81812000-81814000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr16:81812200-81813600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr16:81812200-81813600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:81812200-81813800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr16:81812200-81813800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr16:81812200-81814000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr16:81812200-81814000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr16:81812200-81814000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr16:81812200-81814000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr16:81812200-81814200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr16:81812200-81814200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:81812200-81814200	Bivalent/Poised TSS	Fetal Kidney	kidney
13	chr16:81812400-81813600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:81812400-81813600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:81812400-81813600	Active TSS	Brain Anterior Caudate	brain
16	chr16:81812400-81813600	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr16:81812400-81813600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
18	chr16:81812400-81813600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
19	chr16:81812400-81813600	Active TSS	Hela-S3	cervix
20	chr16:81812400-81813800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr16:81812400-81813800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:81812400-81813800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr16:81812400-81813800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:81812400-81813800	Active TSS	Colon Smooth Muscle	Colon
25	chr16:81812400-81813800	Active TSS	Left Ventricle	heart
26	chr16:81812400-81814000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:81812400-81814000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr16:81812400-81814000	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr16:81812400-81814000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
30	chr16:81812400-81814000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr16:81812400-81815000	Active TSS	GM12878-XiMat	blood
32	chr16:81812600-81813600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr16:81812600-81813600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr16:81812600-81813600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:81812600-81813600	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr16:81812600-81813600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr16:81812600-81813600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr16:81812600-81813600	Active TSS	Esophagus	oesophagus
39	chr16:81812600-81813600	Bivalent Enhancer	Fetal Brain Male	brain
40	chr16:81812600-81813600	Flanking Active TSS	Pancreas	Pancrea
41	chr16:81812600-81813600	Active TSS	Spleen	Spleen
42	chr16:81812600-81813600	Bivalent/Poised TSS	HSMM	muscle
43	chr16:81812600-81813600	Bivalent/Poised TSS	NHLF	lung
44	chr16:81812600-81813800	Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr16:81812600-81813800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
46	chr16:81812600-81813800	Active TSS	Duodenum Mucosa	Duodenum
47	chr16:81812600-81813800	Bivalent/Poised TSS	Psoas Muscle	Psoas
48	chr16:81812600-81814000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
49	chr16:81812600-81814000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
50	chr16:81812600-81814000	Bivalent/Poised TSS	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links