Variant report

Variant	rs73532246
Chromosome Location	chr16:31234600-31234601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:31190075..31193214-chr16:31233435..31236932,3	MCF-7	breast:
2	chr16:31229524..31232280-chr16:31234140..31236879,3	MCF-7	breast:
3	chr16:31225061..31229339-chr16:31234222..31239323,4	MCF-7	breast:
4	chr16:31202771..31204452-chr16:31233343..31235697,2	K562	blood:

Variant related genes	Relation type
ENSG00000177238	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000169900	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10782003	1.00[EUR][1000 genomes]
rs16956408	1.00[EUR][1000 genomes]
rs17839571	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17839573	1.00[EUR][1000 genomes]
rs55643523	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55651936	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55995755	1.00[EUR][1000 genomes]
rs56068718	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58076927	1.00[EUR][1000 genomes]
rs58585879	0.88[AFR][1000 genomes]
rs58865641	1.00[EUR][1000 genomes]
rs59064674	1.00[EUR][1000 genomes]
rs60375074	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60976516	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61086377	1.00[EUR][1000 genomes]
rs61196325	0.88[AFR][1000 genomes]
rs61733962	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs68121698	1.00[EUR][1000 genomes]
rs7186737	1.00[EUR][1000 genomes]
rs72550895	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73530254	1.00[EUR][1000 genomes]
rs73530263	1.00[EUR][1000 genomes]
rs73530266	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73530269	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73530272	1.00[EUR][1000 genomes]
rs73530280	1.00[EUR][1000 genomes]
rs73530283	1.00[EUR][1000 genomes]
rs73530293	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73530298	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532211	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73532214	1.00[EUR][1000 genomes]
rs73532217	0.85[AFR][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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532249	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73532254	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74015090	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:11 , 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	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
7	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
8	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
9	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
10	nsv905746	chr16:31223549-31237920	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	esv3370394	chr16:31234476-31237024	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	4 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	chr16:31227600-31239600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr16:31228400-31240200	Weak transcription	Right Atrium	heart
3	chr16:31228800-31240200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:31230400-31238800	Strong transcription	Fetal Muscle Leg	muscle
5	chr16:31231000-31246800	Weak transcription	Psoas Muscle	Psoas
6	chr16:31232800-31236600	Weak transcription	K562	blood
7	chr16:31233000-31238000	Weak transcription	Spleen	Spleen
8	chr16:31233400-31235600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:31234200-31235000	Strong transcription	Fetal Muscle Trunk	muscle
10	chr16:31234200-31235800	Strong transcription	HSMM	muscle
11	chr16:31234400-31234800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
12	chr16:31234400-31235000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
13	chr16:31234400-31235000	Strong transcription	HSMMtube	muscle

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