Variant report

Variant	rs11641414
Chromosome Location	chr16:83070470-83070471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11642883	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4300637	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4366698	0.88[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4519324	0.83[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4783309	0.88[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7498488	0.83[MKK][hapmap]
rs7500448	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1903	chr16:83035452-83080314	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv949450	chr16:83044981-83099707	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv573385	chr16:83059913-83080502	Enhancers Strong transcription Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83060600-83073600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:83064600-83073200	Weak transcription	HMEC	breast
3	chr16:83065400-83071600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:83067800-83071000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr16:83067800-83073000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:83067800-83094200	Weak transcription	Aorta	Aorta
7	chr16:83069000-83079800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:83069000-83080400	Weak transcription	HSMMtube	muscle
9	chr16:83069400-83072600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:83070000-83070600	Enhancers	Lung	lung
11	chr16:83070000-83071200	Enhancers	Left Ventricle	heart
12	chr16:83070000-83071200	Enhancers	Right Atrium	heart
13	chr16:83070200-83070600	Enhancers	Psoas Muscle	Psoas
14	chr16:83070200-83070600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr16:83070200-83071600	Enhancers	Right Ventricle	heart
16	chr16:83070400-83071000	Enhancers	Fetal Muscle Leg	muscle
17	chr16:83070400-83071200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr16:83070400-83072800	Weak transcription	HSMM	muscle
19	chr16:83070400-83072800	Weak transcription	NHEK	skin

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

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