Variant report

Variant	rs1339220
Chromosome Location	chr1:217265073-217265074
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1166352	0.87[ASW][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1166353	0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2489773	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs830304	0.86[YRI][hapmap]
rs830309	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs830314	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs830315	1.00[AMR][1000 genomes]
rs830319	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs946435	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs946436	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv549205	chr1:217165548-217270219	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217261400-217265200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:217264000-217271800	Weak transcription	Pancreas	Pancrea
3	chr1:217264200-217265800	Enhancers	Duodenum Mucosa	Duodenum
4	chr1:217264200-217267200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:217264400-217266200	Enhancers	Fetal Intestine Large	intestine
6	chr1:217264400-217266200	Enhancers	Fetal Intestine Small	intestine
7	chr1:217264400-217269000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:217264400-217270800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:217264600-217265200	Enhancers	Brain Angular Gyrus	brain
10	chr1:217264600-217265400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:217264600-217265400	Enhancers	Right Ventricle	heart
12	chr1:217264600-217266200	Enhancers	Fetal Heart	heart
13	chr1:217264800-217265200	Enhancers	Fetal Muscle Leg	muscle
14	chr1:217265000-217265200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr1:217265000-217265200	Enhancers	HepG2	liver
16	chr1:217265000-217265600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:217265000-217266000	Enhancers	Fetal Kidney	kidney
18	chr1:217265000-217267800	Weak transcription	Fetal Brain Male	brain
19	chr1:217265000-217269800	Weak transcription	Psoas Muscle	Psoas

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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