Variant report

Variant	rs11117758
Chromosome Location	chr1:217220574-217220575
allele	A/G
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:14)

rs_ID	r²[population]
rs10863291	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11117750	0.83[MEX][hapmap]
rs11117752	0.83[MEX][hapmap]
rs11117754	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11572421	1.00[CEU][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11572424	0.93[ASW][hapmap];0.82[GIH][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap]
rs12075072	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12141987	0.96[EUR][1000 genomes]
rs12142044	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17687992	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2377360	0.90[CEU][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs4360582	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4846805	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7549615	1.00[JPT][hapmap]

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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217204800-217226000	Weak transcription	Fetal Kidney	kidney
2	chr1:217212000-217223200	Weak transcription	Gastric	stomach
3	chr1:217212600-217223000	Weak transcription	Pancreas	Pancrea
4	chr1:217212600-217224800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:217213400-217240600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:217215400-217226600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:217216000-217221000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:217216600-217225000	Weak transcription	Right Ventricle	heart
9	chr1:217217000-217226600	Weak transcription	Brain Anterior Caudate	brain
10	chr1:217217800-217221400	Weak transcription	Left Ventricle	heart
11	chr1:217218000-217227000	Weak transcription	Fetal Heart	heart
12	chr1:217218200-217224000	Weak transcription	Fetal Intestine Large	intestine
13	chr1:217219200-217221200	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:217220000-217224000	Weak transcription	Fetal Intestine Small	intestine

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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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