Variant report

Variant	rs16853396
Chromosome Location	chr2:168173003-168173004
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10497322	0.81[AFR][1000 genomes]
rs1564385	0.81[AFR][1000 genomes]
rs16853313	0.83[AFR][1000 genomes]
rs16853424	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs3749005	0.83[AFR][1000 genomes]
rs58432165	0.81[AFR][1000 genomes]
rs73012071	0.83[AFR][1000 genomes]
rs73012082	0.83[AFR][1000 genomes]
rs73015852	0.97[AFR][1000 genomes]
rs73015860	0.97[AFR][1000 genomes]
rs73015863	0.91[AFR][1000 genomes]
rs73015865	0.85[AFR][1000 genomes]
rs73029719	0.82[AMR][1000 genomes]
rs73029736	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1008704	chr2:168153525-168196371	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2763488	chr2:168163136-168181440	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168152000-168174400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:168154400-168173600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:168167000-168175200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:168167400-168174800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:168167600-168173800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:168167800-168175200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:168173000-168173200	Enhancers	Left Ventricle	heart
8	chr2:168173000-168173400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:168173000-168173400	Enhancers	Brain Germinal Matrix	brain
10	chr2:168173000-168173800	Enhancers	Right Ventricle	heart
11	chr2:168173000-168174000	Enhancers	Cortex derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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