Variant report

Variant	rs4238723
Chromosome Location	chr16:82787996-82787997
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82784687..82786214-chr16:82787764..82790062,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1000076	0.88[ASN][1000 genomes]
rs1000078	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10514557	0.97[ASN][1000 genomes]
rs10514558	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11150492	0.81[YRI][hapmap]
rs1157118	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs11646288	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11646321	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs11647530	0.84[ASN][1000 genomes]
rs12103370	0.85[JPT][hapmap]
rs12448904	0.82[JPT][hapmap]
rs13332390	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1350888	0.88[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs1350889	0.88[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs1462035	0.92[JPT][hapmap]
rs1462043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17183029	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17183071	0.86[ASN][1000 genomes]
rs17183279	0.88[ASN][1000 genomes]
rs17183490	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17273696	0.92[JPT][hapmap]
rs17274555	0.88[ASN][1000 genomes]
rs17274597	0.81[JPT][hapmap]
rs17274793	0.89[ASN][1000 genomes]
rs17274905	0.90[ASN][1000 genomes]
rs2126369	0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs2318186	0.88[ASN][1000 genomes]
rs2318187	0.88[ASN][1000 genomes]
rs2318190	0.86[JPT][hapmap]
rs4293370	0.86[ASN][1000 genomes]
rs4783262	0.96[CEU][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4783263	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4783266	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs55713633	0.85[ASN][1000 genomes]
rs58786779	0.87[ASN][1000 genomes]
rs62034479	0.83[ASN][1000 genomes]
rs62034480	0.84[ASN][1000 genomes]
rs62034481	0.84[ASN][1000 genomes]
rs62034482	0.84[ASN][1000 genomes]
rs62034484	0.85[ASN][1000 genomes]
rs7185447	0.88[ASN][1000 genomes]
rs7197336	0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7197344	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7197523	0.88[ASN][1000 genomes]
rs7201087	0.88[ASN][1000 genomes]
rs8044955	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8046067	0.85[ASN][1000 genomes]
rs8046098	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8060282	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv1064438	chr16:82762729-82788901	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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
16	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
17	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82766800-82788600	Weak transcription	HMEC	breast
2	chr16:82774400-82792200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:82781600-82789000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr16:82781800-82788400	Weak transcription	Fetal Heart	heart
5	chr16:82781800-82788600	Weak transcription	Right Atrium	heart
6	chr16:82781800-82788800	Weak transcription	Aorta	Aorta
7	chr16:82782000-82790000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr16:82782200-82788400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr16:82782200-82790000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:82782400-82789200	Weak transcription	HSMMtube	muscle
11	chr16:82782600-82790200	Weak transcription	Adipose Nuclei	Adipose
12	chr16:82783800-82788600	Weak transcription	Psoas Muscle	Psoas
13	chr16:82784800-82789400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr16:82785000-82788800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:82785200-82794200	Weak transcription	Lung	lung
16	chr16:82786400-82788600	Weak transcription	Left Ventricle	heart
17	chr16:82786800-82790800	Enhancers	NH-A	brain
18	chr16:82786800-82793800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:82787000-82788000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr16:82787000-82790000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr16:82787200-82789000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr16:82787400-82790000	Enhancers	HUVEC	blood vessel
23	chr16:82787600-82789600	Weak transcription	NHLF	lung
24	chr16:82787800-82788200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr16:82787800-82789200	Weak transcription	HSMM	muscle
26	chr16:82787800-82789400	Weak transcription	NHDF-Ad	bronchial
27	chr16:82787800-82789600	Weak transcription	NHEK	skin
28	chr16:82787800-82789600	Weak transcription	Osteobl	bone
29	chr16:82787800-82790000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:82787800-82794800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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