Variant report

Variant	rs560113163
Chromosome Location	chr16:31022147-31022148
allele	G/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	POLR2A	chr16:31021664-31022383	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr16:31021530-31022421	H1-neurons	neurons:	n/a	n/a
3	MAZ	chr16:31021660-31022599	IMR90	lung:	n/a	chr16:31022119-31022129 chr16:31022116-31022126
4	POLR2A	chr16:31022105-31022286	H1-hESC	embryonic stem cell:	n/a	n/a
5	NRF1	chr16:31021897-31022638	SK-N-SH	brain:	n/a	n/a
6	ZNF143	chr16:31021910-31022254	H1-hESC	embryonic stem cell:	n/a	n/a
7	NRF1	chr16:31021905-31022249	H1-hESC	embryonic stem cell:	n/a	n/a
8	REST	chr16:31021051-31022768	H1-neurons	neurons:	n/a	chr16:31021227-31021237 chr16:31022728-31022741 chr16:31021502-31021511

No.	Distal block	Cell Line	Cell type
1	chr16:31007064..31010034-chr16:31018671..31022251,4	MCF-7	breast:
2	chr16:31010991..31014838-chr16:31020635..31023865,5	MCF-7	breast:
3	chr16:31021441..31023477-chr16:31083604..31085649,2	MCF-7	breast:

Variant related genes	Relation type
STX1B	TF binding region
ENSG00000167394	Chromatin interaction
ENSG00000099365	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
7	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
8	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
9	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
10	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
11	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
12	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
13	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
14	esv3410149	chr16:31020876-31023424	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
15	esv3407754	chr16:31020976-31023274	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31009200-31034400	Weak transcription	Right Atrium	heart
2	chr16:31018000-31027400	Weak transcription	A549	lung
3	chr16:31018800-31022200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:31019800-31022200	Active TSS	Brain Anterior Caudate	brain
5	chr16:31020400-31023000	Active TSS	Brain Cingulate Gyrus	brain
6	chr16:31020600-31022400	Active TSS	Brain Angular Gyrus	brain
7	chr16:31020600-31022600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr16:31020800-31022400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:31020800-31022600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr16:31021000-31022200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr16:31021000-31022400	Active TSS	Brain Hippocampus Middle	brain
12	chr16:31021000-31022600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr16:31021000-31022600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr16:31021200-31022200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr16:31021200-31022200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr16:31021200-31022400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr16:31021200-31022400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:31021200-31022400	Active TSS	Brain Substantia Nigra	brain
19	chr16:31021400-31022200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:31021400-31022200	Active TSS	Osteobl	bone
21	chr16:31021400-31022400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr16:31021400-31022400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:31021400-31022400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr16:31021400-31022400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:31021400-31022400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr16:31021400-31022400	Active TSS	Brain Germinal Matrix	brain
27	chr16:31021400-31022400	Active TSS	HSMM	muscle
28	chr16:31021400-31022400	Active TSS	NH-A	brain
29	chr16:31021400-31022600	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr16:31021400-31022600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr16:31021400-31022600	Active TSS	NHLF	lung
32	chr16:31021400-31022800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:31021400-31022800	Active TSS	Fetal Brain Female	brain
34	chr16:31021600-31022200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr16:31021600-31022200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr16:31021600-31022200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:31021600-31022200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr16:31021600-31022200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:31021600-31022200	Active TSS	Primary hematopoietic stem cells	blood
40	chr16:31021600-31022200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr16:31021600-31022200	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr16:31021600-31022200	Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr16:31021600-31022200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr16:31021600-31022200	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr16:31021600-31022200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr16:31021600-31022200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:31021600-31022200	Active TSS	Ovary	ovary
48	chr16:31021600-31022200	Active TSS	Right Ventricle	heart
49	chr16:31021600-31022400	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr16:31021600-31022400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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