Variant report

Variant	rs4783295
Chromosome Location	chr16:82923022-82923023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11150513	0.83[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.98[LWK][hapmap];0.87[MEX][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11150514	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12444122	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12928678	0.87[LWK][hapmap];0.82[MKK][hapmap];0.81[AFR][1000 genomes]
rs12934108	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1862681	0.82[JPT][hapmap];0.91[LWK][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1862682	0.89[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.89[LWK][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4783298	0.90[JPT][hapmap]
rs57863391	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	esv2830385	chr16:82841335-82950413	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv573382	chr16:82905546-82950502	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1064158	chr16:82919690-82935671	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82905800-82924800	Weak transcription	HSMM	muscle
2	chr16:82905800-82925200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:82910400-82932600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:82915800-82953000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:82918800-82933400	Weak transcription	NHEK	skin
6	chr16:82921800-82923200	Enhancers	Fetal Intestine Large	intestine
7	chr16:82921800-82923200	Enhancers	Fetal Intestine Small	intestine
8	chr16:82922200-82924400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr16:82922400-82924800	Weak transcription	Psoas Muscle	Psoas
10	chr16:82922400-82925000	Weak transcription	HSMMtube	muscle
11	chr16:82922400-82925200	Weak transcription	Right Ventricle	heart
12	chr16:82922400-82925800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr16:82922600-82925000	Weak transcription	Aorta	Aorta
14	chr16:82922600-82925000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr16:82922600-82925000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr16:82922600-82925200	Weak transcription	Right Atrium	heart
17	chr16:82922600-82925800	Weak transcription	NH-A	brain
18	chr16:82922600-82933200	Weak transcription	Fetal Muscle Leg	muscle
19	chr16:82922600-82933200	Weak transcription	Left Ventricle	heart
20	chr16:82922800-82924800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:82922800-82925600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr16:82922800-82925600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr16:82922800-82925600	Weak transcription	Osteobl	bone

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