Variant report

Variant	rs41378053
Chromosome Location	chr16:82801530-82801531
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82800736..82802731-chr16:82823544..82826539,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11648993	0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs12449008	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs12924657	0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs12934135	0.94[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs16958471	1.00[CEU][hapmap]
rs16958587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16958616	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs4782730	0.89[CHB][hapmap]
rs7185386	0.82[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7186123	1.00[ASW][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs7191150	0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs7200332	1.00[CEU][hapmap]
rs7201067	0.85[CHB][hapmap];0.85[CHD][hapmap]
rs726122	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs8061163	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap]
rs9989405	0.82[CEU][hapmap];0.94[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1059718	chr16:82564054-82810003	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv573379	chr16:82713551-82887631	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
7	esv2751616	chr16:82714696-82852296	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1067216	chr16:82719694-82821762	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
9	nsv543000	chr16:82719694-82821762	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
10	nsv907026	chr16:82765607-82812853	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1066132	chr16:82769526-82847359	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv543001	chr16:82769526-82847359	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1055547	chr16:82784440-82801892	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv2761928	chr16:82784440-82806653	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv573381	chr16:82784943-82805384	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82790200-82810400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:82793000-82815200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:82795000-82806000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:82795600-82806400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:82795800-82805000	Weak transcription	NHEK	skin
6	chr16:82795800-82810800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:82796200-82803000	Weak transcription	Brain Substantia Nigra	brain
8	chr16:82796200-82803200	Weak transcription	Brain Angular Gyrus	brain
9	chr16:82796200-82803200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr16:82796200-82805400	Weak transcription	HMEC	breast
11	chr16:82796400-82803600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr16:82796400-82810000	Weak transcription	HUVEC	blood vessel
13	chr16:82800600-82801600	Enhancers	Fetal Heart	heart
14	chr16:82800600-82802000	Enhancers	Right Ventricle	heart
15	chr16:82800600-82802600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr16:82800800-82803400	Enhancers	HSMMtube	muscle
17	chr16:82800800-82803800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr16:82800800-82806400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:82801000-82802000	Enhancers	Psoas Muscle	Psoas
20	chr16:82801200-82801600	Enhancers	Brain Hippocampus Middle	brain
21	chr16:82801200-82801600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:82801200-82801800	Enhancers	Right Atrium	heart
23	chr16:82801200-82801800	Strong transcription	HSMM	muscle
24	chr16:82801200-82802000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr16:82801200-82802000	Enhancers	Left Ventricle	heart
26	chr16:82801400-82802000	Enhancers	Aorta	Aorta
27	chr16:82801400-82802000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon

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