Variant report

Variant	rs4967594
Chromosome Location	chr16:46916594-46916595
allele	A/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	POLR2A	chr16:46916251-46918645	HepG2	liver:	n/a	n/a
2	TEAD4	chr16:46916143-46916877	HepG2	liver:	n/a	n/a
3	EP300	chr16:46916491-46916776	HepG2	liver:	n/a	n/a
4	MYBL2	chr16:46916124-46918353	HepG2	liver:	n/a	n/a
5	MAX	chr16:46916479-46916747	HepG2	liver:	n/a	n/a
6	HNF4A	chr16:46916329-46916855	HepG2	liver:	n/a	chr16:46916636-46916648
7	RXRA	chr16:46916309-46916897	HepG2	liver:	n/a	n/a
8	FOSL2	chr16:46916258-46916873	HepG2	liver:	n/a	n/a
9	HDAC2	chr16:46916152-46916905	HepG2	liver:	n/a	chr16:46916638-46916646
10	JUND	chr16:46916292-46916884	HepG2	liver:	n/a	n/a
11	HEY1	chr16:46916133-46918947	HepG2	liver:	n/a	chr16:46918010-46918025 chr16:46918124-46918139 chr16:46918214-46918229 chr16:46918437-46918452
12	JUND	chr16:46916500-46916720	K562	blood:	n/a	n/a
13	CEBPB	chr16:46916388-46916773	HepG2	liver:	n/a	n/a
14	JUND	chr16:46916376-46916758	HepG2	liver:	n/a	n/a
15	HNF4G	chr16:46916367-46916787	HepG2	liver:	n/a	chr16:46916636-46916648
16	MAZ	chr16:46916439-46916688	HepG2	liver:	n/a	n/a
17	HEY1	chr16:46916303-46918141	HepG2	liver:	n/a	chr16:46918010-46918025 chr16:46918124-46918139
18	FOXA1	chr16:46916318-46917044	HepG2	liver:	n/a	n/a
19	NFIC	chr16:46916131-46918159	HepG2	liver:	n/a	n/a
20	EP300	chr16:46916155-46916937	HepG2	liver:	n/a	chr16:46916190-46916206
21	MBD4	chr16:46915922-46918097	HepG2	liver:	n/a	n/a
22	POLR2A	chr16:46916413-46918595	HepG2	liver:	n/a	n/a
23	GATA3	chr16:46916478-46916672	SH-SY5Y	brain:	n/a	n/a
24	MAFF	chr16:46916447-46916647	HepG2	liver:	n/a	n/a
25	CREB1	chr16:46916064-46919268	HepG2	liver:	n/a	n/a
26	FOSL2	chr16:46916245-46916898	HepG2	liver:	n/a	n/a
27	GATA2	chr16:46916394-46916623	HUVEC	blood vessel:	n/a	n/a
28	ATF3	chr16:46916480-46916776	HepG2	liver:	n/a	n/a
29	POLR2A	chr16:46916429-46918545	HepG2	liver:	n/a	n/a
30	NFIC	chr16:46916088-46918258	HepG2	liver:	n/a	n/a
31	RCOR1	chr16:46916223-46916672	HepG2	liver:	n/a	n/a
32	ZEB1	chr16:46916172-46917353	HepG2	liver:	n/a	chr16:46916888-46916896
33	POLR2A	chr16:46916571-46917137	HepG2	liver:	n/a	n/a
34	HDAC2	chr16:46916015-46916850	HepG2	liver:	n/a	chr16:46916638-46916646 chr16:46916056-46916070
35	FOXA1	chr16:46916186-46916915	HepG2	liver:	n/a	n/a
36	RCOR1	chr16:46916225-46916779	K562	blood:	n/a	n/a
37	CEBPB	chr16:46916385-46916786	HepG2	liver:	n/a	n/a
38	FOXA2	chr16:46916268-46916888	HepG2	liver:	n/a	n/a
39	FOXA1	chr16:46916291-46916965	HepG2	liver:	n/a	n/a
40	SMC3	chr16:46916426-46916712	HepG2	liver:	n/a	n/a
41	EP300	chr16:46916273-46916855	HepG2	liver:	n/a	n/a
42	FOXA1	chr16:46916265-46916825	HepG2	liver:	n/a	n/a
43	POLR2A	chr16:46916503-46922808	HepG2	liver:	n/a	n/a
44	MYC	chr16:46916403-46916726	K562	blood:	n/a	n/a
45	MBD4	chr16:46916089-46918202	HepG2	liver:	n/a	n/a
46	MXI1	chr16:46916323-46916821	HepG2	liver:	n/a	chr16:46916591-46916600
47	TBP	chr16:46916365-46917040	HepG2	liver:	n/a	n/a
48	MAX	chr16:46916487-46919276	NB4	blood:	n/a	chr16:46917871-46917880 chr16:46918074-46918084
49	GATA2	chr16:46916378-46916786	SH-SY5Y	brain:	n/a	n/a
50	POLR2A	chr16:46916226-46919725	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:46916414..46917983-chr16:46954082..46956744,2	K562	blood:
2	chr16:46895641..46897768-chr16:46916063..46918079,2	K562	blood:
3	chr16:46916007..46917928-chr16:46919979..46921962,2	MCF-7	breast:
4	chr16:46898009..46901625-chr16:46916085..46918224,4	MCF-7	breast:

Variant related genes	Relation type
GPT2	TF binding region

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10902629	1.00[AMR][1000 genomes]
rs11860636	1.00[AMR][1000 genomes]
rs12598707	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1466170	1.00[AMR][1000 genomes]
rs1530895	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1542292	1.00[AMR][1000 genomes]
rs1641120	1.00[AMR][1000 genomes]
rs1645939	1.00[AMR][1000 genomes]
rs1651658	1.00[AMR][1000 genomes]
rs1651659	1.00[AMR][1000 genomes]
rs166096	1.00[AMR][1000 genomes]
rs168745	1.00[AMR][1000 genomes]
rs1698957	1.00[AMR][1000 genomes]
rs185213	1.00[AMR][1000 genomes]
rs1865837	1.00[AMR][1000 genomes]
rs1865838	1.00[AMR][1000 genomes]
rs194054	1.00[AMR][1000 genomes]
rs194055	1.00[AMR][1000 genomes]
rs1992075	1.00[AMR][1000 genomes]
rs1992078	1.00[AMR][1000 genomes]
rs2034599	1.00[AMR][1000 genomes]
rs250420	1.00[AMR][1000 genomes]
rs250421	1.00[AMR][1000 genomes]
rs252723	1.00[AMR][1000 genomes]
rs252724	1.00[AMR][1000 genomes]
rs252725	1.00[AMR][1000 genomes]
rs252727	1.00[AMR][1000 genomes]
rs252728	1.00[AMR][1000 genomes]
rs252732	1.00[AMR][1000 genomes]
rs252733	1.00[AMR][1000 genomes]
rs252734	1.00[AMR][1000 genomes]
rs28185	1.00[AMR][1000 genomes]
rs36309	1.00[AMR][1000 genomes]
rs36311	1.00[AMR][1000 genomes]
rs36313	1.00[AMR][1000 genomes]
rs36314	1.00[AMR][1000 genomes]
rs36317	1.00[AMR][1000 genomes]
rs36459	1.00[AMR][1000 genomes]
rs36461	1.00[AMR][1000 genomes]
rs36463	1.00[AMR][1000 genomes]
rs36465	1.00[AMR][1000 genomes]
rs36466	1.00[AMR][1000 genomes]
rs36467	1.00[AMR][1000 genomes]
rs36470	1.00[AMR][1000 genomes]
rs36473	1.00[AMR][1000 genomes]
rs36474	1.00[AMR][1000 genomes]
rs36475	1.00[AMR][1000 genomes]
rs36477	1.00[AMR][1000 genomes]
rs36482	1.00[AMR][1000 genomes]
rs40164	1.00[AMR][1000 genomes]
rs408906	1.00[AMR][1000 genomes]
rs41232	1.00[AMR][1000 genomes]
rs414928	1.00[AMR][1000 genomes]
rs420560	1.00[AMR][1000 genomes]
rs425556	1.00[AMR][1000 genomes]
rs438275	1.00[AMR][1000 genomes]
rs449778	1.00[AMR][1000 genomes]
rs4966571	1.00[AMR][1000 genomes]
rs4966603	1.00[AMR][1000 genomes]
rs4967248	1.00[AMR][1000 genomes]
rs4967259	1.00[AMR][1000 genomes]
rs4967595	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62057622	1.00[AMR][1000 genomes]
rs633699	1.00[AMR][1000 genomes]
rs637583	1.00[AMR][1000 genomes]
rs6598661	1.00[AMR][1000 genomes]
rs6598679	1.00[AMR][1000 genomes]
rs6598781	1.00[AMR][1000 genomes]
rs695997	1.00[AMR][1000 genomes]
rs698417	1.00[AMR][1000 genomes]
rs698419	1.00[AMR][1000 genomes]
rs700580	1.00[AMR][1000 genomes]
rs700581	1.00[AMR][1000 genomes]
rs7184436	1.00[AMR][1000 genomes]
rs7192389	1.00[AMR][1000 genomes]
rs7198683	1.00[AMR][1000 genomes]
rs7206393	1.00[AMR][1000 genomes]
rs794283	1.00[AMR][1000 genomes]
rs794557	1.00[AMR][1000 genomes]
rs794558	1.00[AMR][1000 genomes]
rs794559	1.00[AMR][1000 genomes]
rs797016	1.00[AMR][1000 genomes]
rs8044120	1.00[AMR][1000 genomes]
rs8046818	1.00[AMR][1000 genomes]
rs8047302	1.00[AMR][1000 genomes]
rs8048535	1.00[AMR][1000 genomes]
rs8049238	1.00[YRI][hapmap]
rs8049734	1.00[AMR][1000 genomes]
rs8059285	1.00[AMR][1000 genomes]
rs808428	1.00[AMR][1000 genomes]
rs808436	1.00[AMR][1000 genomes]
rs811196	1.00[AMR][1000 genomes]
rs811267	1.00[AMR][1000 genomes]
rs811734	1.00[AMR][1000 genomes]
rs937659	1.00[AMR][1000 genomes]
rs9922581	1.00[AMR][1000 genomes]
rs9930036	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv1060982	chr16:46721805-46938858	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	esv3519767	chr16:46873184-46960035	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3519768	chr16:46873184-46960035	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1831215	chr16:46907546-46962858	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46911600-46916600	Weak transcription	Stomach Mucosa	stomach
2	chr16:46913600-46917000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr16:46914000-46917000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:46914000-46917000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:46914400-46917000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr16:46914400-46917200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr16:46914600-46917000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr16:46915200-46916600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:46915600-46916800	Enhancers	Liver	Liver
10	chr16:46915800-46917400	Weak transcription	Right Atrium	heart
11	chr16:46916000-46916600	Enhancers	Brain Cingulate Gyrus	brain
12	chr16:46916000-46916800	Enhancers	Pancreas	Pancrea
13	chr16:46916000-46917000	Enhancers	Brain Substantia Nigra	brain
14	chr16:46916000-46917000	Flanking Active TSS	HepG2	liver
15	chr16:46916000-46917400	Enhancers	Placenta	Placenta
16	chr16:46916200-46916600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr16:46916200-46916600	Enhancers	K562	blood
18	chr16:46916200-46916800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr16:46916200-46916800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr16:46916200-46917000	Weak transcription	Adipose Nuclei	Adipose
21	chr16:46916200-46917200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr16:46916200-46917200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:46916200-46917200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr16:46916200-46917200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr16:46916200-46917200	Bivalent Enhancer	Fetal Kidney	kidney
26	chr16:46916200-46917600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr16:46916400-46916600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr16:46916400-46917000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr16:46916400-46917000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr16:46916400-46917000	Enhancers	Brain Anterior Caudate	brain
31	chr16:46916400-46917200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr16:46916400-46917200	Enhancers	Brain Hippocampus Middle	brain
33	chr16:46916400-46917200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr16:46916400-46917400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr16:46916400-46917400	Enhancers	Brain Angular Gyrus	brain
36	chr16:46916400-46917400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr16:46916400-46917400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr16:46916400-46917600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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