Variant report

Variant	rs7498798
Chromosome Location	chr16:73097029-73097030
allele	A/G
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	GABPA	chr16:73096796-73097222	H1-hESC	embryonic stem cell:	n/a	chr16:73097079-73097088 chr16:73097077-73097086
2	RAD21	chr16:73096887-73097142	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr16:73096961-73097124	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr16:73096034-73102137	NT2-D1	testis:	n/a	n/a
5	JUND	chr16:73096989-73097283	H1-hESC	embryonic stem cell:	n/a	n/a
6	GATA2	chr16:73096642-73097334	SH-SY5Y	brain:	n/a	chr16:73097290-73097299 chr16:73097223-73097231
7	ZNF143	chr16:73096942-73097313	H1-hESC	embryonic stem cell:	n/a	chr16:73096962-73096972
8	TBP	chr16:73096865-73097469	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr16:73096989-73097189	H1-hESC	embryonic stem cell:	n/a	n/a
10	USF1	chr16:73096999-73097445	H1-hESC	embryonic stem cell:	n/a	chr16:73097055-73097071
11	NANOG	chr16:73096883-73097240	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr16:73095648-73098510	H1-neurons	neurons:	n/a	n/a
13	EGR1	chr16:73096852-73097309	H1-hESC	embryonic stem cell:	n/a	chr16:73097018-73097031
14	POLR2A	chr16:73096250-73099162	Hela-S3	cervix:	n/a	n/a
15	TEAD4	chr16:73096795-73097116	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr16:73097000-73097150	GM12871	blood:	n/a	n/a
17	GABPA	chr16:73096773-73097233	H1-hESC	embryonic stem cell:	n/a	chr16:73097079-73097088 chr16:73097077-73097086
18	EP300	chr16:73096773-73097205	H1-hESC	embryonic stem cell:	n/a	chr16:73097068-73097084 chr16:73097148-73097164 chr16:73096926-73096942
19	TCF12	chr16:73096991-73097225	H1-hESC	embryonic stem cell:	n/a	n/a
20	SP1	chr16:73096659-73097279	H1-hESC	embryonic stem cell:	n/a	chr16:73097110-73097123
21	E2F6	chr16:73096716-73098414	H1-hESC	embryonic stem cell:	n/a	chr16:73098299-73098309 chr16:73097913-73097920 chr16:73097910-73097927
22	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
23	YY1	chr16:73096726-73097265	H1-hESC	embryonic stem cell:	n/a	chr16:73097058-73097072 chr16:73097055-73097069
24	MAX	chr16:73096844-73097514	H1-hESC	embryonic stem cell:	n/a	chr16:73097262-73097273 chr16:73097259-73097274 chr16:73097263-73097273 chr16:73097263-73097272 chr16:73097264-73097271
25	RAD21	chr16:73096779-73097342	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD1	chr16:73096933-73097060	H1-hESC	embryonic stem cell:	n/a	n/a
27	SUZ12	chr16:73096739-73097659	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr16:73096806-73097377	H1-hESC	embryonic stem cell:	n/a	chr16:73097262-73097273 chr16:73097259-73097274 chr16:73097263-73097273 chr16:73097263-73097272 chr16:73097264-73097271
29	CTBP2	chr16:73096543-73098376	H1-hESC	embryonic stem cell:	n/a	n/a
30	SIN3A	chr16:73096710-73097266	H1-hESC	embryonic stem cell:	n/a	chr16:73096963-73096972
31	YY1	chr16:73096835-73097319	H1-hESC	embryonic stem cell:	n/a	chr16:73097058-73097072 chr16:73097055-73097069
32	E2F6	chr16:73096824-73097464	H1-hESC	embryonic stem cell:	n/a	n/a
33	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
34	CTCF	chr16:73096920-73097070	GM12864	blood:	n/a	n/a
35	POLR2A	chr16:73094812-73101535	H1-neurons	neurons:	n/a	n/a
36	MXI1	chr16:73096780-73097302	H1-hESC	embryonic stem cell:	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: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1075855	0.84[AFR][1000 genomes]
rs6416749	0.93[AFR][1000 genomes];0.90[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:84 , 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	chr16:73093400-73098000	Weak transcription	Pancreas	Pancrea
6	chr16:73094400-73098000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:73094800-73098200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:73095000-73099200	Weak transcription	Colon Smooth Muscle	Colon
9	chr16:73095200-73097400	Weak transcription	Hela-S3	cervix
10	chr16:73095200-73100200	Weak transcription	Psoas Muscle	Psoas
11	chr16:73095400-73097400	Weak transcription	Osteobl	bone
12	chr16:73095600-73098200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:73095800-73098000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
14	chr16:73096000-73097600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr16:73096000-73098000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:73096000-73098400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr16:73096000-73100000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:73096200-73097200	Active TSS	NHDF-Ad	bronchial
19	chr16:73096200-73098200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:73096400-73097400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:73096400-73097600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
22	chr16:73096400-73098600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr16:73096400-73099400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:73096400-73099600	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr16:73096600-73097200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr16:73096600-73097200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
27	chr16:73096600-73097200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr16:73096600-73097200	Flanking Bivalent TSS/Enh	NH-A	brain
29	chr16:73096600-73097400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr16:73096600-73097400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
31	chr16:73096600-73097400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
32	chr16:73096600-73097400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:73096600-73097400	Active TSS	Right Atrium	heart
34	chr16:73096600-73097400	Active TSS	HSMM	muscle
35	chr16:73096600-73097400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
36	chr16:73096600-73097600	Weak transcription	A549	lung
37	chr16:73096600-73097800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr16:73096600-73098000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr16:73096600-73098000	Enhancers	HUVEC	blood vessel
40	chr16:73096600-73100600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr16:73096600-73101000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr16:73096800-73097200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
43	chr16:73096800-73097200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
44	chr16:73096800-73097200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr16:73096800-73097200	Bivalent/Poised TSS	Colonic Mucosa	Colon
46	chr16:73096800-73097200	Bivalent Enhancer	Fetal Brain Male	brain
47	chr16:73096800-73097200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr16:73096800-73097200	Bivalent/Poised TSS	Left Ventricle	heart
49	chr16:73096800-73097200	Active TSS	Ovary	ovary
50	chr16:73096800-73097200	Flanking Active TSS	Right Ventricle	heart

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