Variant report

Variant	rs7404072
Chromosome Location	chr16:73096750-73096751
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	GATA2	chr16:73096642-73097334	SH-SY5Y	brain:	n/a	chr16:73097290-73097299 chr16:73097223-73097231
3	POLR2A	chr16:73096635-73096966	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr16:73095648-73098510	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr16:73096250-73099162	Hela-S3	cervix:	n/a	n/a
6	SP1	chr16:73096659-73097279	H1-hESC	embryonic stem cell:	n/a	chr16:73097110-73097123
7	E2F6	chr16:73096716-73098414	H1-hESC	embryonic stem cell:	n/a	chr16:73098299-73098309 chr16:73097913-73097920 chr16:73097910-73097927
8	MAX	chr16:73096743-73097580	H1-hESC	embryonic stem cell:	n/a	chr16:73097262-73097273 chr16:73097259-73097274 chr16:73097263-73097273 chr16:73097263-73097272 chr16:73097264-73097271
9	YY1	chr16:73096726-73097265	H1-hESC	embryonic stem cell:	n/a	chr16:73097058-73097072 chr16:73097055-73097069
10	POLR2A	chr16:73096734-73096816	Hela-S3	cervix:	n/a	n/a
11	SUZ12	chr16:73096739-73097659	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTBP2	chr16:73096543-73098376	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3A	chr16:73096710-73097266	H1-hESC	embryonic stem cell:	n/a	chr16:73096963-73096972
14	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
15	POLR2A	chr16:73094812-73101535	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:72808782..72811039-chr16:73094813..73097689,2	MCF-7	breast:
2	chr16:72949102..72951927-chr16:73096554..73098630,2	MCF-7	breast:
3	chr16:72878570..72880938-chr16:73094933..73097735,2	MCF-7	breast:

Variant related genes	Relation type
ZFHX3	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1075855	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12444827	0.84[EUR][1000 genomes]
rs2285394	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6416748	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6416749	0.82[EUR][1000 genomes]
rs6499607	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs739414	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7405169	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7405247	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8048267	0.84[EUR][1000 genomes];0.88[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:74 , 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	chr16:73093600-73096800	Weak transcription	Ovary	ovary
8	chr16:73094000-73096800	Weak transcription	HMEC	breast
9	chr16:73094400-73096800	Weak transcription	Right Ventricle	heart
10	chr16:73094400-73097000	Enhancers	Liver	Liver
11	chr16:73094400-73097000	Active TSS	Stomach Smooth Muscle	stomach
12	chr16:73094400-73098000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr16:73094800-73098200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:73095000-73099200	Weak transcription	Colon Smooth Muscle	Colon
15	chr16:73095200-73096800	Active TSS	NHLF	lung
16	chr16:73095200-73097400	Weak transcription	Hela-S3	cervix
17	chr16:73095200-73100200	Weak transcription	Psoas Muscle	Psoas
18	chr16:73095400-73097400	Weak transcription	Osteobl	bone
19	chr16:73095600-73098200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:73095800-73096800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr16:73095800-73098000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
22	chr16:73096000-73097600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr16:73096000-73098000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:73096000-73098400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr16:73096000-73100000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:73096200-73096800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr16:73096200-73096800	Active TSS	Brain Anterior Caudate	brain
28	chr16:73096200-73097200	Active TSS	NHDF-Ad	bronchial
29	chr16:73096200-73098200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr16:73096400-73096800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr16:73096400-73096800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr16:73096400-73096800	Bivalent Enhancer	Fetal Heart	heart
33	chr16:73096400-73097000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr16:73096400-73097000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
35	chr16:73096400-73097400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:73096400-73097600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
37	chr16:73096400-73098600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr16:73096400-73099400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr16:73096400-73099600	Bivalent Enhancer	Fetal Intestine Small	intestine
40	chr16:73096600-73096800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
41	chr16:73096600-73096800	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
42	chr16:73096600-73096800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:73096600-73096800	Bivalent Enhancer	Primary T cells from cord blood	blood
44	chr16:73096600-73096800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
45	chr16:73096600-73096800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
46	chr16:73096600-73096800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr16:73096600-73096800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
48	chr16:73096600-73096800	Bivalent Enhancer	Fetal Kidney	kidney
49	chr16:73096600-73096800	Active TSS	Placenta	Placenta
50	chr16:73096600-73096800	Active TSS	Skeletal Muscle Male	skeletal muscle

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