Variant report

Variant	rs62041347
Chromosome Location	chr16:79804459-79804460
allele	G/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	RFX5	chr16:79803570-79805472	IMR90	lung:	n/a	chr16:79804613-79804622 chr16:79804610-79804625 chr16:79804611-79804625
2	HA-E2F1	chr16:79804185-79804950	MCF-7	breast:	n/a	chr16:79804587-79804602 chr16:79804591-79804605 chr16:79804656-79804666 chr16:79804457-79804466 chr16:79804816-79804833
3	NFYB	chr16:79804190-79804982	K562	blood:	n/a	chr16:79804631-79804645 chr16:79804628-79804643 chr16:79804631-79804646 chr16:79804631-79804646 chr16:79804597-79804612
4	POLR2A	chr16:79803819-79804665	PFSK-1	brain:	n/a	n/a
5	RAD21	chr16:79804413-79804594	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr16:79804340-79804490	Caco-2	colon:	n/a	n/a
7	MXI1	chr16:79803755-79805133	SK-N-SH	brain:	n/a	n/a
8	IRF1	chr16:79804005-79804899	K562	blood:	n/a	chr16:79804465-79804479
9	ZMIZ1	chr16:79803430-79805584	K562	blood:	n/a	n/a
10	MAZ	chr16:79804281-79804580	HepG2	liver:	n/a	n/a
11	RAD21	chr16:79804419-79804611	K562	blood:	n/a	n/a
12	JUND	chr16:79804003-79805046	K562	blood:	n/a	chr16:79804470-79804479 chr16:79804635-79804644
13	EP300	chr16:79804428-79804749	T-47D	breast:	n/a	n/a
14	NFYB	chr16:79804412-79804937	GM12878	blood:	n/a	chr16:79804631-79804645 chr16:79804628-79804643 chr16:79804631-79804646 chr16:79804631-79804646 chr16:79804597-79804612
15	SP1	chr16:79804304-79804986	H1-hESC	embryonic stem cell:	n/a	chr16:79804467-79804479 chr16:79804632-79804653 chr16:79804468-79804477 chr16:79804468-79804477 chr16:79804469-79804478 chr16:79804467-79804479
16	ZBTB33	chr16:79803988-79804550	K562	blood:	n/a	chr16:79804273-79804282 chr16:79804268-79804283 chr16:79804268-79804278 chr16:79804270-79804279
17	POLR2A	chr16:79804011-79804533	MCF-7	breast:	n/a	n/a
18	MAX	chr16:79803909-79804981	K562	blood:	n/a	n/a
19	POLR2A	chr16:79803019-79805255	K562	blood:	n/a	n/a
20	JUN	chr16:79804263-79804727	K562	blood:	n/a	chr16:79804470-79804479 chr16:79804635-79804644
21	RCOR1	chr16:79804237-79804695	HepG2	liver:	n/a	n/a
22	E2F6	chr16:79804447-79804714	K562	blood:	n/a	chr16:79804587-79804602 chr16:79804591-79804605 chr16:79804656-79804666 chr16:79804457-79804466
23	POLR2A	chr16:79803975-79804548	K562	blood:	n/a	n/a
24	EP300	chr16:79804342-79804835	SK-N-SH_RA	brain:	n/a	n/a
25	ARID3A	chr16:79804162-79804706	K562	blood:	n/a	n/a
26	EP300	chr16:79802602-79805391	SK-N-SH	brain:	n/a	chr16:79802820-79802834 chr16:79803941-79803955 chr16:79802825-79802839
27	E2F4	chr16:79804360-79804938	MCF10A-Er-Src	breast:	n/a	chr16:79804587-79804602 chr16:79804591-79804605 chr16:79804656-79804666 chr16:79804457-79804466 chr16:79804816-79804833
28	CTCF	chr16:79804280-79804484	NHEK	skin:	n/a	n/a
29	NFYA	chr16:79804237-79805394	K562	blood:	n/a	chr16:79804631-79804645 chr16:79804631-79804646 chr16:79804631-79804646
30	POLR2A	chr16:79803918-79804502	SK-N-MC	brain:	n/a	n/a
31	ZNF143	chr16:79804455-79804732	GM12878	blood:	n/a	n/a
32	FOS	chr16:79804421-79804845	K562	blood:	n/a	chr16:79804470-79804479 chr16:79804635-79804644
33	ZNF143	chr16:79803992-79804914	K562	blood:	n/a	n/a
34	POLR2A	chr16:79804292-79804470	A549	lung:	n/a	n/a
35	UBTF	chr16:79804168-79804937	K562	blood:	n/a	n/a
36	SP2	chr16:79804448-79804717	K562	blood:	n/a	chr16:79804634-79804644 chr16:79804565-79804580
37	RAD21	chr16:79804186-79804794	H1-hESC	embryonic stem cell:	n/a	n/a
38	YY1	chr16:79804449-79804916	K562	blood:	n/a	chr16:79804461-79804472 chr16:79804455-79804469
39	POLR2A	chr16:79803975-79804829	GM19193	blood:	n/a	n/a
40	POLR2A	chr16:79804309-79804472	A549	lung:	n/a	n/a
41	HMGN3	chr16:79804031-79804893	K562	blood:	n/a	n/a
42	POLR2A	chr16:79803948-79805011	K562	blood:	n/a	n/a
43	RCOR1	chr16:79803960-79804909	K562	blood:	n/a	n/a
44	ELF1	chr16:79804352-79804702	K562	blood:	n/a	chr16:79804654-79804666
45	ZEB1	chr16:79804269-79804511	GM12878	blood:	n/a	n/a
46	MAZ	chr16:79803269-79804943	K562	blood:	n/a	n/a
47	RAD21	chr16:79804167-79804790	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr16:79804075-79804850	A549	lung:	n/a	n/a
49	MXI1	chr16:79804105-79804483	HepG2	liver:	n/a	n/a
50	CTCF	chr16:79804316-79804465	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:79804438-79804488	BJ	skin:	n/a
2	chr16:79804438-79804488	AG04449	skin:	fetal
3	chr16:79804438-79804488	NT2-D1	testis:	n/a
4	chr16:79804438-79804488	MCF-7	breast:	n/a
5	chr16:79804438-79804488	PFSK-1	brain:	n/a
6	chr16:79804438-79804488	NB4	blood:	n/a
7	chr16:79804438-79804488	IMR90	lung:	fetal
8	chr16:79804438-79804488	HRE	kidney:	n/a
9	chr16:79804438-79804488	Caco-2	colon:	n/a
10	chr16:79804438-79804488	T-47D	breast:	n/a
11	chr16:79804438-79804488	PANC-1	pancreas:	n/a
12	chr16:79804438-79804488	HUVEC	blood vessel:	n/a
13	chr16:79804438-79804488	RPTEC	kidney:	n/a
14	chr16:79804438-79804488	GM12878	blood:	n/a
15	chr16:79804438-79804488	Jurkat	blood:	n/a
16	chr16:79804438-79804488	AoSMC	blood vessel:	n/a
17	chr16:79804438-79804488	HCT-116	colon:	n/a
18	chr16:79804438-79804488	LNCaP	prostate:	n/a
19	chr16:79804438-79804488	NHDF-neo	bronchial:	n/a
20	chr16:79804438-79804488	GM19239	blood:	n/a
21	chr16:79804438-79804488	SKMC	muscle:	n/a
22	chr16:79804438-79804488	HepG2	liver:	n/a
23	chr16:79804438-79804488	HRPEpiC	eye:	n/a
24	chr16:79804438-79804488	AG04450	lung:	fetal
25	chr16:79804438-79804488	SAEC	small airway:	n/a
26	chr16:79804438-79804488	AG09319	gingival:	n/a
27	chr16:79804438-79804488	GM12892	blood:	n/a
28	chr16:79804438-79804488	MCF10A-Er-Src	breast:	n/a
29	chr16:79804438-79804488	HPAEpiC	pulmonary alveolar:	n/a
30	chr16:79804438-79804488	U87	brain:	n/a
31	chr16:79804438-79804488	HCPEpiC	choroid plexus:	n/a
32	chr16:79804438-79804488	PrEC	prostate:	n/a
33	chr16:79804438-79804488	ProgFib	skin:	n/a
34	chr16:79804438-79804488	CMK	blood:	n/a
35	chr16:79804438-79804488	GM06990	blood:	n/a
36	chr16:79804438-79804488	SK-N-SH	brain:	n/a
37	chr16:79804438-79804488	HAEpiC	amniotic membrane:	n/a
38	chr16:79804438-79804488	HEEpiC	esophagus:	n/a
39	chr16:79804438-79804488	GM12891	blood:	n/a
40	chr16:79804438-79804488	ovcar-3	ovarian:	n/a
41	chr16:79804438-79804488	HEK293	kidney:	embryo
42	chr16:79804438-79804488	NHBE	bronchial:	n/a
43	chr16:79804438-79804488	Hela-S3	cervix:	n/a
44	chr16:79804438-79804488	HIPEpiC	eye:	n/a
45	chr16:79804438-79804488	AG09309	skin:	n/a
46	chr16:79804438-79804488	NH-A	brain:	n/a
47	chr16:79804438-79804488	HMEC	breast:	n/a
48	chr16:79804438-79804488	BE2_C	brain:	n/a
49	chr16:79804438-79804488	HRCEpiC	kidney:	n/a
50	chr16:79804438-79804488	A549	lung:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAF-2	chr16:79804344-79804827	XLOC_012017
2	lnc-MAF-2	chr16:79804344-79804460	ENSG00000261390.1
3	lnc-MAF-2	chr16:79804344-79804460	ENSG00000261390.1

Variant related genes	Relation type
ENSG00000261390	TF binding region
ENSG00000261390	CpG island

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12443838	1.00[ASN][1000 genomes]
rs4313818	1.00[ASN][1000 genomes]
rs4506911	0.92[ASN][1000 genomes]
rs56006814	0.81[EUR][1000 genomes]
rs56052219	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62041307	0.82[EUR][1000 genomes]
rs62041308	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62041309	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62041310	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62041311	0.83[EUR][1000 genomes]
rs62041312	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62041313	0.83[EUR][1000 genomes]
rs62041316	0.83[EUR][1000 genomes]
rs62041317	0.83[EUR][1000 genomes]
rs62041318	0.83[EUR][1000 genomes]
rs62041319	0.83[EUR][1000 genomes]
rs62041320	0.83[EUR][1000 genomes]
rs62041323	0.87[EUR][1000 genomes]
rs62041324	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62041325	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62041326	0.87[EUR][1000 genomes]
rs62041327	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62041339	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62041344	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62041345	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62041346	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041348	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041349	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7187139	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8053535	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2755409	chr16:79776699-79816299	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79801400-79805000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr16:79803600-79805200	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr16:79803600-79805200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr16:79803800-79804800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:79803800-79804800	Active TSS	Fetal Brain Female	brain
6	chr16:79803800-79804800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr16:79803800-79805000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:79803800-79805000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr16:79803800-79805200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:79804000-79804800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr16:79804000-79804800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr16:79804000-79804800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:79804000-79804800	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr16:79804000-79804800	Active TSS	Brain Anterior Caudate	brain
15	chr16:79804000-79804800	Active TSS	Fetal Kidney	kidney
16	chr16:79804000-79804800	Active TSS	Thymus	Thymus
17	chr16:79804000-79804800	Active TSS	GM12878-XiMat	blood
18	chr16:79804000-79804800	Active TSS	HSMM	muscle
19	chr16:79804000-79804800	Active TSS	Monocytes-CD14+_RO01746	blood
20	chr16:79804000-79805000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr16:79804000-79805000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr16:79804000-79805000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:79804000-79805000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:79804000-79805000	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr16:79804000-79805000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:79804000-79805000	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr16:79804000-79805000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr16:79804000-79805000	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr16:79804000-79805000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr16:79804000-79805000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr16:79804000-79805000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr16:79804000-79805000	Active TSS	Brain Germinal Matrix	brain
33	chr16:79804000-79805000	Active TSS	Psoas Muscle	Psoas
34	chr16:79804000-79805000	Active TSS	HSMMtube	muscle
35	chr16:79804000-79805200	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr16:79804000-79805200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr16:79804000-79805200	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr16:79804000-79805200	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr16:79804000-79805200	Active TSS	Aorta	Aorta
40	chr16:79804000-79805200	Active TSS	Ovary	ovary
41	chr16:79804200-79804600	Active TSS	Primary B cells from cord blood	blood
42	chr16:79804200-79804600	Active TSS	Primary T cells from cord blood	blood
43	chr16:79804200-79804600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr16:79804200-79804600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr16:79804200-79804600	Active TSS	HMEC	breast
46	chr16:79804200-79804600	Active TSS	HUVEC	blood vessel
47	chr16:79804200-79804800	Active TSS	H1 Cell Line	embryonic stem cell
48	chr16:79804200-79804800	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr16:79804200-79804800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr16:79804200-79804800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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