Variant report

Variant	rs2071221
Chromosome Location	chr5:151304306-151304307
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12108921	0.82[YRI][hapmap]
rs1366236	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs153959	0.83[ASN][1000 genomes]
rs2071220	0.92[CEU][hapmap];0.86[CHB][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3749653	0.85[ASN][1000 genomes]
rs413317	0.84[ASN][1000 genomes]
rs422192	0.85[ASN][1000 genomes]
rs445656	0.84[ASN][1000 genomes]
rs4467698	0.92[EUR][1000 genomes]
rs4958283	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6877199	0.92[EUR][1000 genomes]
rs72802240	0.91[ASN][1000 genomes]
rs7349787	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7708145	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7712434	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7729457	0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.92[ASN][1000 genomes]
rs7733241	0.87[YRI][hapmap]
rs991738	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531994	chr5:151292664-151331097	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2071221	C5orf46	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151299200-151305800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr5:151303400-151305200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:151303400-151305600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:151303600-151304400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
5	chr5:151303600-151304600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:151303600-151304800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:151303600-151304800	Active TSS	Brain Cingulate Gyrus	brain
8	chr5:151303600-151305000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr5:151303600-151305000	Active TSS	Brain Anterior Caudate	brain
10	chr5:151303600-151305400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:151304000-151304400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr5:151304000-151304400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
13	chr5:151304000-151304400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
14	chr5:151304000-151305200	Active TSS	Brain Angular Gyrus	brain
15	chr5:151304000-151305400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr5:151304200-151304400	Active TSS	Brain Hippocampus Middle	brain
17	chr5:151304200-151304800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:151304200-151304800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:151304200-151305200	Bivalent Enhancer	Fetal Brain Male	brain

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Input of quick search could be:

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

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