Variant report

Variant	rs16848584
Chromosome Location	chr2:213316592-213316593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10207963	1.00[ASN][1000 genomes]
rs11695241	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13018441	1.00[JPT][hapmap]
rs13034755	1.00[JPT][hapmap]
rs13422701	0.97[ASN][1000 genomes]
rs16848535	1.00[CHB][hapmap]
rs16848540	1.00[CHB][hapmap]
rs16848583	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1813049	0.97[ASN][1000 genomes]
rs2170530	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4627509	1.00[CHB][hapmap]
rs6435706	1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710782	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6715328	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6719811	1.00[JPT][hapmap]
rs6738011	1.00[CHB][hapmap]
rs6752016	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6760968	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73989003	0.81[ASN][1000 genomes]
rs73989006	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73989011	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73989012	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73989013	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570124	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593163	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7603379	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[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	nsv834527	chr2:213115966-213334308	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1004573	chr2:213186537-213365252	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv875811	chr2:213200920-213347104	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv432024	chr2:213314899-213446726	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213312200-213320400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:213314000-213316600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:213314200-213316600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:213315800-213316600	Enhancers	Fetal Heart	heart
5	chr2:213315800-213317200	Enhancers	NHEK	skin
6	chr2:213315800-213317400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:213316200-213316600	Active TSS	A549	lung
8	chr2:213316200-213317000	Enhancers	Fetal Kidney	kidney
9	chr2:213316400-213316600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:213316400-213316600	Flanking Active TSS	HepG2	liver
11	chr2:213316400-213316800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:213316400-213316800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:213316400-213316800	Enhancers	Brain Hippocampus Middle	brain
14	chr2:213316400-213317000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:213316400-213317000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:213316400-213317000	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:213316400-213317000	Enhancers	Brain Substantia Nigra	brain
18	chr2:213316400-213317000	Enhancers	HMEC	breast
19	chr2:213316400-213317000	Enhancers	HSMMtube	muscle
20	chr2:213316400-213317200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:213316400-213317200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:213316400-213317200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:213316400-213317200	Enhancers	NHDF-Ad	bronchial

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