Variant report

Variant	rs55819025
Chromosome Location	chr16:83149130-83149131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:83145390..83147785-chr16:83148088..83150957,2	K562	blood:
2	chr16:83147849..83150197-chr16:83152325..83154955,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10153218	0.95[EUR][1000 genomes]
rs13329932	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13329937	0.98[EUR][1000 genomes]
rs13332819	0.95[EUR][1000 genomes]
rs13333884	0.95[EUR][1000 genomes]
rs13333926	0.95[EUR][1000 genomes]
rs13337135	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13337231	0.95[EUR][1000 genomes]
rs17194176	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17194204	0.98[EUR][1000 genomes]
rs17194225	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17194386	0.95[EUR][1000 genomes]
rs17194449	0.95[EUR][1000 genomes]
rs17279307	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17279341	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17279383	0.98[EUR][1000 genomes]
rs17279551	0.95[EUR][1000 genomes]
rs28524119	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6565123	0.98[EUR][1000 genomes]
rs6565124	0.98[EUR][1000 genomes]
rs6565125	0.98[EUR][1000 genomes]
rs6565126	0.98[EUR][1000 genomes]
rs7187117	0.98[EUR][1000 genomes]
rs7187925	1.00[ASN][1000 genomes]
rs7188901	1.00[ASN][1000 genomes]
rs7192647	0.98[EUR][1000 genomes]
rs7205046	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72798347	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72798349	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72798354	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72798356	0.95[EUR][1000 genomes]
rs72798364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72798366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72798368	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72798373	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8046790	0.98[EUR][1000 genomes]
rs9921372	0.95[EUR][1000 genomes]
rs9921422	0.95[EUR][1000 genomes]
rs9921952	0.95[EUR][1000 genomes]
rs9922134	0.95[EUR][1000 genomes]
rs9930263	0.95[EUR][1000 genomes]
rs9932351	0.95[EUR][1000 genomes]
rs9932357	0.91[EUR][1000 genomes]
rs9933033	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv573386	chr16:83091463-83170417	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv833306	chr16:83113899-83298775	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv869185	chr16:83125002-83342105	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv907032	chr16:83130260-83152148	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv907033	chr16:83130260-83162678	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv457583	chr16:83134457-83155723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv573388	chr16:83134457-83155723	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv1062989	chr16:83138449-83271119	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83133600-83149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:83134600-83151800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr16:83136400-83157600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:83138000-83154600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:83139600-83150000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:83140000-83153000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:83140000-83158400	Weak transcription	HMEC	breast
8	chr16:83140200-83158400	Weak transcription	NHEK	skin
9	chr16:83142200-83149600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:83142400-83153400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:83144200-83149200	Weak transcription	HSMM	muscle
12	chr16:83144200-83149600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:83144400-83153200	Weak transcription	HSMMtube	muscle
14	chr16:83147000-83151000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:83147200-83149400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr16:83147200-83151000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr16:83147400-83149200	Weak transcription	Right Ventricle	heart
18	chr16:83147600-83149200	Weak transcription	Left Ventricle	heart
19	chr16:83147600-83149600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr16:83147600-83149600	Weak transcription	Lung	lung
21	chr16:83147600-83149600	Weak transcription	Psoas Muscle	Psoas
22	chr16:83147600-83150000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:83147600-83150000	Weak transcription	Right Atrium	heart
24	chr16:83147600-83152000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr16:83147600-83157600	Weak transcription	Fetal Muscle Leg	muscle
26	chr16:83147600-83158800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr16:83148200-83149200	Weak transcription	NHDF-Ad	bronchial
28	chr16:83148200-83149800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr16:83148400-83149400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr16:83148800-83149400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr16:83148800-83150200	Enhancers	Aorta	Aorta
32	chr16:83149000-83149200	Enhancers	Osteobl	bone
33	chr16:83149000-83149600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:83149000-83150800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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