Variant report

Variant	rs16856187
Chromosome Location	chr2:169770386-169770387
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10497347	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12053049	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13389076	0.83[ASN][1000 genomes]
rs13419326	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16856247	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28819151	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3755157	0.84[ASN][1000 genomes]
rs4144857	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4144858	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4148804	0.84[ASN][1000 genomes]
rs504979	0.82[ASN][1000 genomes]
rs60415045	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73972707	0.98[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	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv459943	chr2:169756930-169799010	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv583600	chr2:169756930-169799010	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169768400-169770400	Enhancers	H1 Cell Line	embryonic stem cell
2	chr2:169768400-169770400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:169768400-169771400	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:169768600-169771400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:169769000-169770600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:169769200-169770600	Enhancers	Liver	Liver
7	chr2:169769400-169770400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:169769400-169770400	Enhancers	Pancreas	Pancrea
9	chr2:169769400-169772200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:169769800-169770400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr2:169769800-169770400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:169769800-169770400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:169769800-169770400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:169769800-169770400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:169769800-169770400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:169769800-169770400	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:169769800-169770400	Enhancers	Brain Hippocampus Middle	brain
18	chr2:169769800-169770400	Bivalent Enhancer	Fetal Intestine Small	intestine
19	chr2:169769800-169770400	Enhancers	Fetal Muscle Leg	muscle
20	chr2:169769800-169770600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:169769800-169770600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:169769800-169771400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:169769800-169771600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:169769800-169771600	Enhancers	Fetal Brain Male	brain
25	chr2:169769800-169773400	Enhancers	Fetal Brain Female	brain
26	chr2:169770000-169770400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:169770000-169770400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:169770000-169770400	Enhancers	Ovary	ovary
29	chr2:169770000-169770400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr2:169770000-169770600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:169770000-169770800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr2:169770000-169771000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:169770000-169772200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:169770200-169770400	Bivalent Enhancer	Brain Anterior Caudate	brain
35	chr2:169770200-169770400	Enhancers	HSMM	muscle
36	chr2:169770200-169770600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:169770200-169771000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:169770200-169771600	Weak transcription	Brain Germinal Matrix	brain

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