Variant report

Variant	rs9989432
Chromosome Location	chr16:31225189-31225190
allele	C/T
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	USF2	chr16:31225155-31225424	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr16:31225104-31225408	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr16:31225082-31225628	HCT-116	colon:	n/a	n/a
4	MAX	chr16:31224873-31227140	HCT-116	colon:	n/a	chr16:31225304-31225313
5	POLR2A	chr16:31225061-31225783	HCT-116	colon:	n/a	n/a
6	USF1	chr16:31225139-31225485	H1-hESC	embryonic stem cell:	n/a	chr16:31225303-31225314
7	USF1	chr16:31224929-31225711	HCT-116	colon:	n/a	chr16:31225303-31225314
8	USF1	chr16:31224866-31225777	HCT-116	colon:	n/a	chr16:31225303-31225314
9	USF1	chr16:31225103-31225416	H1-hESC	embryonic stem cell:	n/a	chr16:31225303-31225314

No.	Distal block	Cell Line	Cell type
1	chr16:31190054..31194646-chr16:31224217..31229118,11	MCF-7	breast:
2	chr16:31225061..31229339-chr16:31234222..31239323,4	MCF-7	breast:
3	chr16:31210451..31214037-chr16:31224426..31227776,4	MCF-7	breast:

Variant related genes	Relation type
TRIM72	TF binding region
ENSG00000089280	Chromatin interaction
ENSG00000103490	Chromatin interaction
ENSG00000261359	Chromatin interaction
ENSG00000261925	Chromatin interaction
ENSG00000260304	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62054768	0.80[EUR][1000 genomes]
rs62054769	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
12	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
13	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
14	nsv571824	chr16:31220577-31225405	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31218800-31225200	Weak transcription	Spleen	Spleen
2	chr16:31219000-31226400	Weak transcription	K562	blood
3	chr16:31223400-31225200	Weak transcription	Fetal Intestine Small	intestine
4	chr16:31223400-31225200	Weak transcription	GM12878-XiMat	blood
5	chr16:31223600-31225400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:31223600-31225400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:31223800-31225200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr16:31223800-31225800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr16:31224800-31225200	Flanking Active TSS	HSMM	muscle
10	chr16:31224800-31225400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:31224800-31225400	Enhancers	Psoas Muscle	Psoas
12	chr16:31224800-31225400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr16:31224800-31225600	Bivalent Enhancer	Fetal Intestine Large	intestine
14	chr16:31225000-31225200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr16:31225000-31225200	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr16:31225000-31225200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr16:31225000-31225400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr16:31225000-31225400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:31225000-31225600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr16:31225000-31225600	Flanking Active TSS	HSMMtube	muscle
21	chr16:31225000-31225800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:31225000-31226000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr16:31225000-31226400	Enhancers	Primary B cells from peripheral blood	blood
24	chr16:31225000-31227200	Active TSS	H9 Cell Line	embryonic stem cell

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