Variant report

Variant	rs11645253
Chromosome Location	chr16:81900964-81900965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11644646	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11648071	0.80[ASN][1000 genomes]
rs3934986	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3935743	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3935744	0.81[ASN][1000 genomes]
rs41301799	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41312260	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4627338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56070867	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56314015	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56676680	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1065088	chr16:81878481-81953248	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81876200-81918200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:81880000-81911200	Weak transcription	Pancreas	Pancrea
3	chr16:81880400-81908200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:81887600-81901800	Weak transcription	Fetal Kidney	kidney
5	chr16:81894800-81912400	Weak transcription	Fetal Intestine Small	intestine
6	chr16:81895800-81902600	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr16:81896400-81902400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:81896800-81910400	Weak transcription	Gastric	stomach
9	chr16:81897400-81901800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr16:81897600-81902000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:81897600-81902200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:81897600-81902600	Genic enhancers	GM12878-XiMat	blood
13	chr16:81898600-81901200	Enhancers	Lung	lung
14	chr16:81898800-81907400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr16:81898800-81912400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr16:81899000-81901600	Weak transcription	Right Ventricle	heart
17	chr16:81899000-81902000	Enhancers	Spleen	Spleen
18	chr16:81899000-81904000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:81899000-81934600	Weak transcription	Right Atrium	heart
20	chr16:81899600-81901200	Enhancers	Adipose Nuclei	Adipose
21	chr16:81899600-81901400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr16:81899800-81901200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr16:81899800-81901400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr16:81900000-81901000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr16:81900000-81901200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:81900000-81901200	Enhancers	Placenta	Placenta
27	chr16:81900000-81904400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr16:81900200-81901200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr16:81900400-81901000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr16:81900400-81901000	Enhancers	Liver	Liver
31	chr16:81900400-81901000	Enhancers	Brain Substantia Nigra	brain
32	chr16:81900400-81901200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr16:81900400-81901200	Enhancers	Fetal Thymus	thymus
34	chr16:81900400-81901200	Enhancers	HMEC	breast
35	chr16:81900400-81904800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr16:81900600-81901000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr16:81900600-81901000	Flanking Active TSS	HUVEC	blood vessel
38	chr16:81900600-81901200	Enhancers	Thymus	Thymus
39	chr16:81900800-81901000	Enhancers	Esophagus	oesophagus
40	chr16:81900800-81901200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr16:81900800-81925000	Weak transcription	Rectal Smooth Muscle	rectum

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