Variant report

Variant	rs2285394
Chromosome Location	chr16:73096243-73096244
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	SUZ12	chr16:73096034-73102137	NT2-D1	testis:	n/a	n/a
2	POLR2A	chr16:73095648-73098510	H1-neurons	neurons:	n/a	n/a
3	REST	chr16:73079663-73097378	H1-neurons	neurons:	n/a	chr16:73084142-73084155 chr16:73087431-73087444 chr16:73082371-73082384 chr16:73091909-73091929 chr16:73082047-73082060 chr16:73097037-73097057 chr16:73088004-73088022 chr16:73091374-73091387 chr16:73091745-73091758 chr16:73096963-73096973 chr16:73091633-73091646 chr16:73091913-73091926 chr16:73097037-73097057 chr16:73081695-73081715 chr16:73091544-73091557 chr16:73096925-73096938 chr16:73097330-73097339
4	POLR2A	chr16:73096169-73096388	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr16:73094812-73101535	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72808782..72811039-chr16:73094813..73097689,2	MCF-7	breast:
2	chr16:72878570..72880938-chr16:73094933..73097735,2	MCF-7	breast:

Variant related genes	Relation type
ZFHX3	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1075855	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6416748	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6499607	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs739414	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7404072	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7405169	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7405247	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8048267	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv827730	chr16:73066699-73115642	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv827732	chr16:73069343-73116594	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv827733	chr16:73075114-73103721	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv1815924	chr16:73085286-73105415	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv1837302	chr16:73091679-73102456	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73087800-73099200	Active TSS	Aorta	Aorta
2	chr16:73093000-73097400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr16:73093200-73098600	Weak transcription	Lung	lung
4	chr16:73093200-73100600	Weak transcription	Gastric	stomach
5	chr16:73093400-73096800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:73093400-73098000	Weak transcription	Pancreas	Pancrea
7	chr16:73093600-73096600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr16:73093600-73096600	Weak transcription	Placenta	Placenta
9	chr16:73093600-73096800	Weak transcription	Ovary	ovary
10	chr16:73094000-73096800	Weak transcription	HMEC	breast
11	chr16:73094200-73096600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
12	chr16:73094400-73096400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr16:73094400-73096600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr16:73094400-73096600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr16:73094400-73096800	Weak transcription	Right Ventricle	heart
16	chr16:73094400-73097000	Enhancers	Liver	Liver
17	chr16:73094400-73097000	Active TSS	Stomach Smooth Muscle	stomach
18	chr16:73094400-73098000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr16:73094600-73096600	Enhancers	HSMMtube	muscle
20	chr16:73094800-73098200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:73095000-73096400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr16:73095000-73096600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr16:73095000-73099200	Weak transcription	Colon Smooth Muscle	Colon
24	chr16:73095200-73096400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr16:73095200-73096400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:73095200-73096400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr16:73095200-73096600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr16:73095200-73096600	Weak transcription	Right Atrium	heart
29	chr16:73095200-73096600	Enhancers	A549	lung
30	chr16:73095200-73096800	Active TSS	NHLF	lung
31	chr16:73095200-73097400	Weak transcription	Hela-S3	cervix
32	chr16:73095200-73100200	Weak transcription	Psoas Muscle	Psoas
33	chr16:73095400-73097400	Weak transcription	Osteobl	bone
34	chr16:73095600-73096600	Weak transcription	HUVEC	blood vessel
35	chr16:73095600-73098200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr16:73095800-73096800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr16:73095800-73098000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
38	chr16:73096000-73096600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:73096000-73096600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr16:73096000-73096600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr16:73096000-73097600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr16:73096000-73098000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr16:73096000-73098400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:73096000-73100000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
45	chr16:73096200-73096600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr16:73096200-73096600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:73096200-73096600	Bivalent Enhancer	Fetal Lung	lung
48	chr16:73096200-73096600	Flanking Active TSS	HSMM	muscle
49	chr16:73096200-73096600	Bivalent Enhancer	NH-A	brain
50	chr16:73096200-73096800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell

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