Variant report

Variant	rs3096379
Chromosome Location	chr16:71323465-71323466
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	SP1	chr16:71323010-71323683	A549	lung:	n/a	chr16:71323447-71323456 chr16:71323445-71323457 chr16:71323044-71323054
2	HDAC2	chr16:71322883-71323530	HepG2	liver:	n/a	n/a
3	CTCF	chr16:71323340-71323490	HVMF	connective:	n/a	n/a
4	POLR2A	chr16:71322633-71323509	GM12878	blood:	n/a	n/a
5	MAX	chr16:71322582-71323784	A549	lung:	n/a	chr16:71323462-71323471 chr16:71323452-71323462 chr16:71323042-71323051
6	E2F6	chr16:71322722-71323637	A549	lung:	n/a	chr16:71323444-71323456 chr16:71323316-71323325
7	POLR2A	chr16:71322862-71323524	HUVEC	blood vessel:	n/a	n/a
8	CEBPD	chr16:71323074-71323525	HepG2	liver:	n/a	n/a
9	MXI1	chr16:71323079-71323847	K562	blood:	n/a	chr16:71323456-71323471
10	CHD2	chr16:71322915-71323539	HepG2	liver:	n/a	n/a
11	SPI1	chr16:71322761-71323505	HL-60	blood:	n/a	n/a
12	ETS1	chr16:71322778-71323482	K562	blood:	n/a	chr16:71323108-71323118 chr16:71323108-71323119 chr16:71323469-71323476 chr16:71323110-71323119 chr16:71323107-71323123
13	RAD21	chr16:71323288-71323518	K562	blood:	n/a	n/a
14	BHLHE40	chr16:71322666-71323780	GM12878	blood:	n/a	chr16:71323344-71323353 chr16:71323344-71323353 chr16:71323343-71323352
15	ZBTB7A	chr16:71323003-71323471	HepG2	liver:	n/a	n/a
16	POLR2A	chr16:71322732-71323789	GM18951	blood:	n/a	n/a
17	CTCF	chr16:71323356-71323469	MCF-7	breast:	n/a	n/a
18	EP300	chr16:71323106-71323494	GM12878	blood:	n/a	chr16:71323257-71323273
19	YY1	chr16:71323169-71323518	HCT-116	colon:	n/a	chr16:71323262-71323273 chr16:71323476-71323490
20	SRF	chr16:71322798-71323795	MCF-7	breast:	n/a	n/a
21	TAF1	chr16:71322700-71323531	K562	blood:	n/a	n/a
22	E2F6	chr16:71322735-71323711	H1-hESC	embryonic stem cell:	n/a	chr16:71323444-71323456 chr16:71323316-71323325
23	POLR2A	chr16:71322589-71323846	HCT-116	colon:	n/a	n/a
24	SPI1	chr16:71322622-71323539	GM12878	blood:	n/a	n/a
25	REST	chr16:71323181-71323495	PFSK-1	brain:	n/a	n/a
26	SP1	chr16:71322863-71323591	GM12878	blood:	n/a	chr16:71323447-71323456 chr16:71323445-71323457 chr16:71323044-71323054
27	NRF1	chr16:71323183-71323486	HepG2	liver:	n/a	chr16:71323315-71323324 chr16:71323314-71323325 chr16:71323312-71323326 chr16:71323315-71323329 chr16:71323315-71323326
28	NFE2	chr16:71323212-71323491	GM12878	blood:	n/a	n/a
29	FOS	chr16:71323212-71323469	MCF10A-Er-Src	breast:	n/a	n/a
30	EGR1	chr16:71322808-71323669	MCF-7	breast:	n/a	chr16:71323040-71323053 chr16:71323039-71323053 chr16:71323222-71323235 chr16:71323041-71323051 chr16:71323037-71323051 chr16:71323040-71323053 chr16:71323316-71323325 chr16:71323445-71323459 chr16:71323041-71323050 chr16:71323110-71323119 chr16:71323040-71323053 chr16:71323448-71323461
31	E2F6	chr16:71322931-71323584	K562	blood:	n/a	chr16:71323444-71323456 chr16:71323316-71323325
32	ELF1	chr16:71322792-71323829	HepG2	liver:	n/a	chr16:71323255-71323267 chr16:71323446-71323458
33	POLR2A	chr16:71322703-71323535	K562	blood:	n/a	n/a
34	POLR2A	chr16:71322766-71323731	HUVEC	blood vessel:	n/a	n/a
35	PAX5	chr16:71323188-71323721	GM12878	blood:	n/a	chr16:71323316-71323325
36	EP300	chr16:71323243-71323739	T-47D	breast:	n/a	chr16:71323257-71323273
37	RUNX3	chr16:71322573-71323566	GM12878	blood:	n/a	n/a
38	CTCF	chr16:71323244-71323660	K562	blood:	n/a	chr16:71323292-71323302
39	E2F6	chr16:71322970-71323647	H1-hESC	embryonic stem cell:	n/a	chr16:71323444-71323456 chr16:71323316-71323325
40	ELK1	chr16:71322973-71323471	K562	blood:	n/a	n/a
41	USF1	chr16:71323143-71323509	H1-hESC	embryonic stem cell:	n/a	chr16:71323344-71323353 chr16:71323344-71323353 chr16:71323343-71323352
42	CTCF	chr16:71323320-71323470	HepG2	liver:	n/a	n/a
43	POLR2A	chr16:71322527-71323640	GM12892	blood:	n/a	n/a
44	POLR2A	chr16:71322838-71323676	A549	lung:	n/a	n/a
45	MYC	chr16:71322566-71323688	K562	blood:	n/a	chr16:71323462-71323471 chr16:71323452-71323462 chr16:71323042-71323051
46	ELF1	chr16:71322608-71324003	MCF-7	breast:	n/a	chr16:71323255-71323267 chr16:71323446-71323458
47	MYC	chr16:71322721-71323888	A549	lung:	n/a	chr16:71323462-71323471 chr16:71323452-71323462 chr16:71323042-71323051
48	CREB1	chr16:71322955-71323674	A549	lung:	n/a	n/a
49	PBX3	chr16:71322878-71323765	SK-N-SH	brain:	n/a	n/a
50	RAD21	chr16:71323213-71323633	SK-N-SH_RA	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:71323418-71323468	SK-N-SH	brain:	n/a
2	chr16:71323418-71323468	AG04449	skin:	fetal
3	chr16:71323418-71323468	ProgFib	skin:	n/a
4	chr16:71323418-71323468	AG10803	skin:	n/a
5	chr16:71323418-71323468	NH-A	brain:	n/a
6	chr16:71323418-71323468	Jurkat	blood:	n/a
7	chr16:71323418-71323468	HCF	heart:	n/a
8	chr16:71323418-71323468	HepG2	liver:	n/a
9	chr16:71323418-71323468	BJ	skin:	n/a
10	chr16:71323418-71323468	RPTEC	kidney:	n/a
11	chr16:71323418-71323468	GM12892	blood:	n/a
12	chr16:71323418-71323468	HEK293	kidney:	embryo
13	chr16:71323418-71323468	PrEC	prostate:	n/a
14	chr16:71323418-71323468	SAEC	small airway:	n/a
15	chr16:71323418-71323468	Hepatocyte	liver:	n/a
16	chr16:71323418-71323468	GM06990	blood:	n/a
17	chr16:71323418-71323468	SK-N-MC	brain:	n/a
18	chr16:71323418-71323468	Caco-2	colon:	n/a
19	chr16:71323418-71323468	HEEpiC	esophagus:	n/a
20	chr16:71323418-71323468	PFSK-1	brain:	n/a
21	chr16:71323418-71323468	SK-N-SH_RA	brain:	n/a
22	chr16:71323418-71323468	GM12878	blood:	n/a
23	chr16:71323418-71323468	HIPEpiC	eye:	n/a
24	chr16:71323418-71323468	K562	blood:	n/a
25	chr16:71323418-71323468	AoSMC	blood vessel:	n/a
26	chr16:71323418-71323468	T-47D	breast:	n/a
27	chr16:71323418-71323468	HL-60	blood:	n/a
28	chr16:71323418-71323468	GM12891	blood:	n/a
29	chr16:71323418-71323468	PANC-1	pancreas:	n/a
30	chr16:71323418-71323468	MCF10A-Er-Src	breast:	n/a
31	chr16:71323418-71323468	GM19239	blood:	n/a
32	chr16:71323418-71323468	LNCaP	prostate:	n/a
33	chr16:71323418-71323468	H1-hESC	embryonic stem cell:	embryo
34	chr16:71323418-71323468	AG09309	skin:	n/a
35	chr16:71323418-71323468	HMEC	breast:	n/a
36	chr16:71323418-71323468	HCM	heart:	n/a
37	chr16:71323418-71323468	Hela-S3	cervix:	n/a
38	chr16:71323418-71323468	SKMC	muscle:	n/a
39	chr16:71323418-71323468	AG04450	lung:	fetal
40	chr16:71323418-71323468	CMK	blood:	n/a
41	chr16:71323418-71323468	HAEpiC	amniotic membrane:	n/a
42	chr16:71323418-71323468	HRPEpiC	eye:	n/a
43	chr16:71323418-71323468	A549	lung:	n/a
44	chr16:71323418-71323468	BE2_C	brain:	n/a
45	chr16:71323418-71323468	HPAEpiC	pulmonary alveolar:	n/a
46	chr16:71323418-71323468	HRCEpiC	kidney:	n/a
47	chr16:71323418-71323468	HCT-116	colon:	n/a
48	chr16:71323418-71323468	NT2-D1	testis:	n/a
49	chr16:71323418-71323468	IMR90	lung:	fetal
50	chr16:71323418-71323468	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71322783..71323560-chr2:220143758..220144677,2	HCT-116	colon:
2	chr16:71321486..71324307-chr16:71517654..71519525,2	MCF-7	breast:
3	chr16:71322803..71323475-chr17:70117001..70117711,2	HCT-116	colon:

Variant related genes	Relation type
CMTR2	TF binding region
CMTR2	CpG island
ENSG00000125398	Chromatin interaction
ENSG00000157429	Chromatin interaction
ENSG00000135924	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs109556	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11865544	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs121308	0.83[EUR][1000 genomes]
rs1345890	0.82[AMR][1000 genomes]
rs171013	0.86[EUR][1000 genomes]
rs182910	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2059274	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs235996	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs235999	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs236006	0.86[EUR][1000 genomes]
rs3094452	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3096371	0.83[EUR][1000 genomes]
rs3096381	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4570853	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4788790	0.88[AMR][1000 genomes]
rs62055863	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv482374	chr16:71228600-71401617	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1062426	chr16:71307180-71423400	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71321400-71323800	Active TSS	GM12878-XiMat	blood
2	chr16:71321800-71324200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:71322000-71323800	Active TSS	Fetal Muscle Trunk	muscle
4	chr16:71322000-71324000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr16:71322000-71324000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr16:71322000-71324400	Active TSS	Colonic Mucosa	Colon
7	chr16:71322200-71323600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:71322200-71323600	Active TSS	Lung	lung
9	chr16:71322200-71323800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr16:71322200-71323800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr16:71322200-71323800	Active TSS	Aorta	Aorta
12	chr16:71322200-71323800	Active TSS	Fetal Thymus	thymus
13	chr16:71322200-71323800	Active TSS	Psoas Muscle	Psoas
14	chr16:71322200-71323800	Active TSS	Right Ventricle	heart
15	chr16:71322200-71323800	Active TSS	HSMM	muscle
16	chr16:71322200-71324000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:71322200-71324000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:71322200-71324000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:71322200-71324000	Active TSS	NHDF-Ad	bronchial
20	chr16:71322400-71323800	Active TSS	Brain Germinal Matrix	brain
21	chr16:71322400-71323800	Active TSS	Fetal Intestine Large	intestine
22	chr16:71322400-71323800	Active TSS	Ovary	ovary
23	chr16:71322400-71323800	Active TSS	Hela-S3	cervix
24	chr16:71322400-71323800	Active TSS	NHLF	lung
25	chr16:71322400-71324000	Active TSS	Primary T cells fromperipheralblood	blood
26	chr16:71322400-71324000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr16:71322400-71324000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr16:71322400-71324000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:71322400-71324000	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr16:71322400-71324000	Active TSS	Fetal Muscle Leg	muscle
31	chr16:71322400-71324000	Active TSS	Placenta	Placenta
32	chr16:71322400-71324000	Active TSS	A549	lung
33	chr16:71322400-71324000	Active TSS	HMEC	breast
34	chr16:71322400-71324200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr16:71322400-71324200	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr16:71322400-71324200	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr16:71322400-71324200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr16:71322400-71324200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:71322600-71323600	Active TSS	Esophagus	oesophagus
40	chr16:71322600-71323600	Active TSS	Left Ventricle	heart
41	chr16:71322600-71323600	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr16:71322600-71323600	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr16:71322600-71323600	Active TSS	Small Intestine	intestine
44	chr16:71322600-71323800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:71322600-71323800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:71322600-71323800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr16:71322600-71323800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr16:71322600-71323800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:71322600-71323800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr16:71322600-71323800	Active TSS	Primary hematopoietic stem cells short term culture	blood

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