Variant report

Variant	rs55643523
Chromosome Location	chr16:31219487-31219488
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31219370-31219769	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31219002..31224135-chr16:31224460..31227404,5	K562	blood:
2	chr16:31217446..31220627-chr16:31224134..31227211,5	MCF-7	breast:

Variant related genes	Relation type
PYCARD	TF binding region
ENSG00000177238	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10782003	1.00[EUR][1000 genomes]
rs16956408	1.00[EUR][1000 genomes]
rs17839571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17839573	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55651936	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55995755	1.00[EUR][1000 genomes]
rs56068718	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58076927	1.00[EUR][1000 genomes]
rs58585879	0.84[AFR][1000 genomes]
rs58865641	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59064674	1.00[EUR][1000 genomes]
rs60375074	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60976516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61086377	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61196325	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61733962	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68121698	1.00[EUR][1000 genomes]
rs7186737	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72550895	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530256	1.00[AMR][1000 genomes]
rs73530263	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530266	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530269	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530272	1.00[EUR][1000 genomes]
rs73530280	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530283	1.00[EUR][1000 genomes]
rs73530293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532211	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532214	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532217	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532228	1.00[EUR][1000 genomes]
rs73532236	1.00[EUR][1000 genomes]
rs73532241	1.00[EUR][1000 genomes]
rs73532245	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532246	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532249	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532254	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74015090	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74015096	1.00[EUR][1000 genomes]
rs9708646	1.00[EUR][1000 genomes]
rs9927298	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
6	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
7	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
8	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
9	nsv905744	chr16:31216517-31234288	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv905745	chr16:31216517-31247924	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv571821	chr16:31216909-31225149	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv571822	chr16:31216909-31225405	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv571823	chr16:31216909-31227908	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
14	nsv1066073	chr16:31219071-31278572	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31215600-31223000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:31216200-31222600	Weak transcription	GM12878-XiMat	blood
3	chr16:31218000-31219800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr16:31218000-31220200	Enhancers	Fetal Intestine Large	intestine
5	chr16:31218000-31220400	Enhancers	Duodenum Mucosa	Duodenum
6	chr16:31218200-31220800	Enhancers	Fetal Intestine Small	intestine
7	chr16:31218800-31219600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr16:31218800-31225200	Weak transcription	Spleen	Spleen
9	chr16:31219000-31226400	Weak transcription	K562	blood
10	chr16:31219200-31220000	Bivalent Enhancer	HepG2	liver
11	chr16:31219200-31224800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:31219400-31219600	Enhancers	Colonic Mucosa	Colon
13	chr16:31219400-31219600	Enhancers	Esophagus	oesophagus

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