Variant report

Variant	rs1075855
Chromosome Location	chr16:73098091-73098092
allele	C/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	REST	chr16:73097700-73098154	H1-neurons	neurons:	n/a	n/a
2	FOS	chr16:73098058-73098834	MCF10A-Er-Src	breast:	n/a	chr16:73098182-73098193 chr16:73098649-73098663 chr16:73098073-73098082
3	TAL1	chr16:73098065-73098094	K562	blood:	n/a	n/a
4	SMC3	chr16:73098020-73098390	Hela-S3	cervix:	n/a	chr16:73098078-73098088 chr16:73098085-73098095
5	STAT3	chr16:73098065-73098724	MCF10A-Er-Src	breast:	n/a	chr16:73098385-73098397 chr16:73098516-73098527
6	GTF2F1	chr16:73097979-73098514	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr16:73098034-73098411	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr16:73097243-73099093	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr16:73097894-73098945	IMR90	lung:	n/a	n/a
10	FOS	chr16:73097902-73099063	HUVEC	blood vessel:	n/a	chr16:73099026-73099035 chr16:73098182-73098193 chr16:73098649-73098663 chr16:73098073-73098082
11	RFX5	chr16:73098082-73098348	Hela-S3	cervix:	n/a	n/a
12	SUZ12	chr16:73096034-73102137	NT2-D1	testis:	n/a	n/a
13	NR2C2	chr16:73098067-73098424	Hela-S3	cervix:	n/a	n/a
14	ZKSCAN1	chr16:73097925-73098353	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr16:73097796-73099322	MCF10A-Er-Src	breast:	n/a	n/a
16	CHD2	chr16:73098018-73098401	Hela-S3	cervix:	n/a	n/a
17	JUND	chr16:73098036-73098414	Hela-S3	cervix:	n/a	chr16:73098182-73098193 chr16:73098073-73098082
18	POLR2A	chr16:73095648-73098510	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr16:73097929-73099224	U87	brain:	n/a	n/a
20	POLR2A	chr16:73096250-73099162	Hela-S3	cervix:	n/a	n/a
21	FOS	chr16:73097859-73098828	MCF10A-Er-Src	breast:	n/a	chr16:73098182-73098193 chr16:73098649-73098663 chr16:73098073-73098082
22	GATA2	chr16:73098061-73098857	HUVEC	blood vessel:	n/a	chr16:73098107-73098114 chr16:73098096-73098113 chr16:73098104-73098116 chr16:73098105-73098115 chr16:73098507-73098517
23	POLR2A	chr16:73097977-73098233	A549	lung:	n/a	n/a
24	MAX	chr16:73097990-73098399	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr16:73098068-73098191	A549	lung:	n/a	n/a
26	POLR2A	chr16:73098005-73098428	Hela-S3	cervix:	n/a	n/a
27	RAD21	chr16:73098081-73098361	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr16:73098071-73098398	Gliobla	brain:	n/a	n/a
29	E2F6	chr16:73096716-73098414	H1-hESC	embryonic stem cell:	n/a	chr16:73098299-73098309 chr16:73097913-73097920 chr16:73097910-73097927
30	RAD21	chr16:73098062-73098815	IMR90	lung:	n/a	n/a
31	POLR2A	chr16:73098060-73098196	A549	lung:	n/a	n/a
32	POLR2A	chr16:73098018-73098512	Hela-S3	cervix:	n/a	n/a
33	USF2	chr16:73098076-73098418	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr16:73098049-73098968	U87	brain:	n/a	n/a
35	TBP	chr16:73098068-73098340	Hela-S3	cervix:	n/a	n/a
36	MAZ	chr16:73097974-73098368	Hela-S3	cervix:	n/a	n/a
37	CTBP2	chr16:73096543-73098376	H1-hESC	embryonic stem cell:	n/a	n/a
38	RCOR1	chr16:73097992-73098370	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr16:73097935-73099128	U87	brain:	n/a	n/a
40	REST	chr16:73097471-73098459	H1-neurons	neurons:	n/a	n/a
41	BRCA1	chr16:73097985-73098301	Hela-S3	cervix:	n/a	n/a
42	TCF7L2	chr16:73098007-73098886	Hela-S3	cervix:	n/a	n/a
43	FOS	chr16:73098069-73098826	MCF10A-Er-Src	breast:	n/a	chr16:73098182-73098193 chr16:73098649-73098663 chr16:73098073-73098082
44	POLR2A	chr16:73094812-73101535	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:72865444..72867125-chr16:73097425..73099018,2	MCF-7	breast:
2	chr16:73097830..73099712-chr16:73187498..73189012,2	MCF-7	breast:
3	chr16:72949102..72951927-chr16:73096554..73098630,2	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]
rs12444827	0.92[AFR][1000 genomes]
rs2285394	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6416748	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6416749	0.90[AFR][1000 genomes]
rs6499607	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs739414	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7404072	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7405169	0.84[ASN][1000 genomes]
rs7405247	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7498798	0.84[AFR][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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73087800-73099200	Active TSS	Aorta	Aorta
2	chr16:73093200-73098600	Weak transcription	Lung	lung
3	chr16:73093200-73100600	Weak transcription	Gastric	stomach
4	chr16:73094800-73098200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:73095000-73099200	Weak transcription	Colon Smooth Muscle	Colon
6	chr16:73095200-73100200	Weak transcription	Psoas Muscle	Psoas
7	chr16:73095600-73098200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:73096000-73098400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:73096000-73100000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:73096200-73098200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:73096400-73098600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr16:73096400-73099400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:73096400-73099600	Bivalent Enhancer	Fetal Intestine Small	intestine
14	chr16:73096600-73100600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr16:73096600-73101000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:73096800-73098200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr16:73096800-73099000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:73096800-73099200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr16:73096800-73100200	Bivalent Enhancer	Fetal Stomach	stomach
20	chr16:73097000-73098200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr16:73097000-73098200	Bivalent Enhancer	Liver	Liver
22	chr16:73097000-73098400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr16:73097000-73099200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
24	chr16:73097000-73099600	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr16:73097000-73099800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
26	chr16:73097000-73100200	Bivalent Enhancer	Fetal Heart	heart
27	chr16:73097000-73100600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr16:73097000-73100800	Bivalent Enhancer	Primary B cells from cord blood	blood
29	chr16:73097200-73098200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
30	chr16:73097200-73098200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:73097200-73098200	Weak transcription	Ovary	ovary
32	chr16:73097200-73098400	Enhancers	Right Ventricle	heart
33	chr16:73097200-73099400	Flanking Active TSS	NHLF	lung
34	chr16:73097200-73101400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr16:73097400-73098200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr16:73097400-73098200	Bivalent Enhancer	Brain Germinal Matrix	brain
37	chr16:73097400-73098800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
38	chr16:73097400-73098800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
39	chr16:73097400-73099800	Active TSS	Stomach Smooth Muscle	stomach
40	chr16:73097400-73100400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr16:73097600-73098200	Enhancers	Right Atrium	heart
42	chr16:73097600-73098400	Bivalent Enhancer	Adipose Nuclei	Adipose
43	chr16:73097600-73098600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:73097600-73099200	Flanking Active TSS	NH-A	brain
45	chr16:73097600-73100200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr16:73097600-73100600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
47	chr16:73097600-73101000	Bivalent Enhancer	Fetal Thymus	thymus
48	chr16:73097800-73098200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr16:73097800-73098200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr16:73097800-73098200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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