Variant report

Variant	rs13331092
Chromosome Location	chr16:71518654-71518655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:310)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr16:71517890-71518709	A549	lung:	n/a	chr16:71518305-71518314
2	SIN3AK20	chr16:71518326-71518677	A549	lung:	n/a	n/a
3	POLR2A	chr16:71517888-71518873	GM12878	blood:	n/a	n/a
4	YY1	chr16:71517985-71518699	SK-N-SH_RA	brain:	n/a	chr16:71518372-71518386
5	HEY1	chr16:71517783-71518854	HepG2	liver:	n/a	n/a
6	JUND	chr16:71517947-71518782	K562	blood:	n/a	n/a
7	TAF1	chr16:71518035-71518706	A549	lung:	n/a	n/a
8	POLR2A	chr16:71517208-71519054	IMR90	lung:	n/a	n/a
9	POLR2A	chr16:71517657-71518803	HepG2	liver:	n/a	n/a
10	POLR2A	chr16:71517359-71518934	GM12891	blood:	n/a	n/a
11	ELF1	chr16:71517957-71518662	K562	blood:	n/a	n/a
12	ELK1	chr16:71518426-71518678	Hela-S3	cervix:	n/a	n/a
13	TAF1	chr16:71517910-71518812	H1-hESC	embryonic stem cell:	n/a	n/a
14	IRF1	chr16:71517958-71518739	K562	blood:	n/a	chr16:71518495-71518509 chr16:71518500-71518511 chr16:71518499-71518509
15	ZNF143	chr16:71517990-71518864	K562	blood:	n/a	chr16:71518279-71518297
16	MYC	chr16:71518373-71518654	HepG2	liver:	n/a	n/a
17	POLR2A	chr16:71517871-71518734	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr16:71517882-71518666	GM12878	blood:	n/a	n/a
19	YY1	chr16:71518028-71518672	HCT-116	colon:	n/a	chr16:71518372-71518386
20	SP1	chr16:71517868-71518726	H1-hESC	embryonic stem cell:	n/a	n/a
21	ELF1	chr16:71517919-71518731	GM12878	blood:	n/a	n/a
22	SPI1	chr16:71518350-71518697	HL-60	blood:	n/a	n/a
23	POLR2A	chr16:71517175-71518897	GM12878	blood:	n/a	n/a
24	MAX	chr16:71517665-71518787	HepG2	liver:	n/a	chr16:71518305-71518314
25	BACH1	chr16:71518381-71518772	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr16:71517982-71518847	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr16:71517927-71518733	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr16:71518110-71518710	Hela-S3	cervix:	n/a	n/a
29	MAX	chr16:71517916-71518851	MCF-7	breast:	n/a	chr16:71518305-71518314
30	SP2	chr16:71517807-71518874	HepG2	liver:	n/a	n/a
31	POLR2A	chr16:71517981-71518773	GM18951	blood:	n/a	n/a
32	GABPA	chr16:71517924-71519007	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr16:71517858-71518779	GM12892	blood:	n/a	n/a
34	POLR2A	chr16:71517910-71518809	K562	blood:	n/a	n/a
35	EP300	chr16:71517768-71518749	GM12878	blood:	n/a	chr16:71518360-71518376
36	POLR2A	chr16:71518227-71518781	SK-N-MC	brain:	n/a	n/a
37	CREB1	chr16:71517772-71518971	HepG2	liver:	n/a	n/a
38	POLR2A	chr16:71517924-71518716	HCT-116	colon:	n/a	n/a
39	MAZ	chr16:71517842-71518851	GM12878	blood:	n/a	chr16:71518305-71518314
40	CREB1	chr16:71517885-71518863	GM12878	blood:	n/a	n/a
41	TAF1	chr16:71517860-71518827	H1-neurons	neurons:	n/a	n/a
42	NFIC	chr16:71517987-71518825	GM12878	blood:	n/a	n/a
43	TCF7L2	chr16:71518021-71518698	HCT-116	colon:	n/a	n/a
44	RFX5	chr16:71517931-71518705	HepG2	liver:	n/a	n/a
45	POLR2A	chr16:71517896-71518763	GM18526	blood:	n/a	n/a
46	RCOR1	chr16:71517850-71518757	K562	blood:	n/a	n/a
47	FOS	chr16:71518492-71518658	MCF10A-Er-Src	breast:	n/a	n/a
48	KAP1	chr16:71517753-71518780	U2OS	brain:	n/a	chr16:71518426-71518434
49	EP300	chr16:71517806-71518885	GM12878	blood:	n/a	chr16:71518360-71518376
50	SP2	chr16:71518292-71518742	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:71518618-71518668	SK-N-SH_RA	brain:	n/a
2	chr16:71518618-71518668	ProgFib	skin:	n/a
3	chr16:71518618-71518668	HAEpiC	amniotic membrane:	n/a
4	chr16:71518618-71518668	HPAEpiC	pulmonary alveolar:	n/a
5	chr16:71518618-71518668	ECC-1	luminal epithelium:	n/a
6	chr16:71518618-71518668	AG10803	skin:	n/a
7	chr16:71518618-71518668	NB4	blood:	n/a
8	chr16:71518618-71518668	HEEpiC	esophagus:	n/a
9	chr16:71518618-71518668	H1-hESC	embryonic stem cell:	embryo
10	chr16:71518618-71518668	SK-N-SH	brain:	n/a
11	chr16:71518618-71518668	ovcar-3	ovarian:	n/a
12	chr16:71518618-71518668	Hela-S3	cervix:	n/a
13	chr16:71518618-71518668	GM19239	blood:	n/a
14	chr16:71518618-71518668	PFSK-1	brain:	n/a
15	chr16:71518618-71518668	Hepatocyte	liver:	n/a
16	chr16:71518618-71518668	Caco-2	colon:	n/a
17	chr16:71518618-71518668	Jurkat	blood:	n/a
18	chr16:71518618-71518668	HCT-116	colon:	n/a
19	chr16:71518618-71518668	GM12891	blood:	n/a
20	chr16:71518618-71518668	RPTEC	kidney:	n/a
21	chr16:71518618-71518668	U87	brain:	n/a
22	chr16:71518618-71518668	IMR90	lung:	fetal
23	chr16:71518618-71518668	HL-60	blood:	n/a
24	chr16:71518618-71518668	HRE	kidney:	n/a
25	chr16:71518618-71518668	HUVEC	blood vessel:	n/a
26	chr16:71518618-71518668	HepG2	liver:	n/a
27	chr16:71518618-71518668	AG09309	skin:	n/a
28	chr16:71518618-71518668	LNCaP	prostate:	n/a
29	chr16:71518618-71518668	HNPCEpiC	eye:	n/a
30	chr16:71518618-71518668	NT2-D1	testis:	n/a
31	chr16:71518618-71518668	NH-A	brain:	n/a
32	chr16:71518618-71518668	HRCEpiC	kidney:	n/a
33	chr16:71518618-71518668	GM06990	blood:	n/a
34	chr16:71518618-71518668	HMEC	breast:	n/a
35	chr16:71518618-71518668	HCPEpiC	choroid plexus:	n/a
36	chr16:71518618-71518668	HCF	heart:	n/a
37	chr16:71518618-71518668	BJ	skin:	n/a
38	chr16:71518618-71518668	AG04450	lung:	fetal
39	chr16:71518618-71518668	AoSMC	blood vessel:	n/a
40	chr16:71518618-71518668	T-47D	breast:	n/a
41	chr16:71518618-71518668	AG09319	gingival:	n/a
42	chr16:71518618-71518668	CMK	blood:	n/a
43	chr16:71518618-71518668	MCF10A-Er-Src	breast:	n/a
44	chr16:71518618-71518668	GM12878	blood:	n/a
45	chr16:71518618-71518668	SK-N-MC	brain:	n/a
46	chr16:71518618-71518668	NHDF-neo	bronchial:	n/a
47	chr16:71518618-71518668	SAEC	small airway:	n/a
48	chr16:71518618-71518668	PrEC	prostate:	n/a
49	chr16:71518618-71518668	MCF-7	breast:	n/a
50	chr16:71518618-71518668	GM12892	blood:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71490751..71498047-chr16:71514421..71521729,20	MCF-7	breast:
2	chr16:71496429..71497137-chr16:71517966..71518746,2	HCT-116	colon:
3	chr16:71516946..71520167-chr16:71520825..71527785,6	MCF-7	breast:
4	chr16:71495690..71496577-chr16:71518159..71519385,6	MCF-7	breast:
5	chr16:71516991..71518687-chr16:71598041..71600179,2	K562	blood:
6	chr16:71492243..71500079-chr16:71512817..71521299,31	MCF-7	breast:
7	chr16:71515385..71518984-chr16:71658944..71661712,3	MCF-7	breast:
8	chr16:71495699..71496606-chr16:71517751..71518756,7	MCF-7	breast:
9	chr16:71494034..71497645-chr16:71516569..71520102,12	K562	blood:
10	chr16:71515755..71518920-chr16:71520634..71524924,4	K562	blood:
11	chr16:71321486..71324307-chr16:71517654..71519525,2	MCF-7	breast:
12	chr16:71492651..71498511-chr16:71515020..71523604,17	K562	blood:
13	chr16:71517111..71518667-chr16:71521366..71523864,2	K562	blood:
14	chr16:71517404..71519756-chr16:71521184..71524689,3	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF19	TF binding region
ZNF19	CpG island
ENSG00000180917	Chromatin interaction
ENSG00000157429	Chromatin interaction
ENSG00000140832	Chromatin interaction
ENSG00000260886	Chromatin interaction
ENSG00000247324	Chromatin interaction
ENSG00000261611	Chromatin interaction
ENSG00000260593	Chromatin interaction
ENSG00000167377	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11075896	1.00[ASW][hapmap];0.88[LWK][hapmap]
rs13335958	1.00[AMR][1000 genomes]
rs13338592	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338643	0.83[AMR][1000 genomes]
rs13338868	0.88[LWK][hapmap]
rs13339359	0.83[AMR][1000 genomes]
rs16972292	0.81[LWK][hapmap];0.81[MKK][hapmap]
rs16973227	0.88[LWK][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28436693	1.00[AMR][1000 genomes]
rs28448676	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59475931	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202340	0.81[YRI][hapmap]
rs73584836	1.00[AMR][1000 genomes]
rs73589850	1.00[AMR][1000 genomes]
rs8053156	0.83[AMR][1000 genomes]
rs8060811	1.00[AMR][1000 genomes]
rs9302628	1.00[ASW][hapmap];0.88[LWK][hapmap]
rs9921203	0.86[YRI][hapmap];0.83[AMR][1000 genomes]
rs9926624	0.93[YRI][hapmap];0.83[AMR][1000 genomes]
rs9927547	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9927810	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9940830	0.91[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71517400-71519200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:71517400-71519200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr16:71517600-71518800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr16:71517600-71518800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr16:71517600-71519000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:71517600-71519000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr16:71517600-71519000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:71517600-71519000	Active TSS	Brain Angular Gyrus	brain
9	chr16:71517600-71519000	Active TSS	Brain Germinal Matrix	brain
10	chr16:71517600-71519000	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr16:71517600-71519000	Active TSS	Thymus	Thymus
12	chr16:71517600-71519000	Active TSS	HSMM	muscle
13	chr16:71517600-71519200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:71517600-71519200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:71517800-71518800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:71517800-71518800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr16:71517800-71518800	Active TSS	Primary B cells from cord blood	blood
18	chr16:71517800-71518800	Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr16:71517800-71518800	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr16:71517800-71518800	Active TSS	Colon Smooth Muscle	Colon
21	chr16:71517800-71518800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr16:71517800-71518800	Active TSS	Esophagus	oesophagus
23	chr16:71517800-71518800	Active TSS	Pancreas	Pancrea
24	chr16:71517800-71519000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr16:71517800-71519000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:71517800-71519000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr16:71517800-71519000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr16:71517800-71519000	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr16:71517800-71519000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr16:71517800-71519000	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr16:71517800-71519000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:71517800-71519000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr16:71517800-71519000	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr16:71517800-71519000	Active TSS	Aorta	Aorta
35	chr16:71517800-71519000	Active TSS	Colonic Mucosa	Colon
36	chr16:71517800-71519000	Active TSS	Left Ventricle	heart
37	chr16:71517800-71519000	Active TSS	Ovary	ovary
38	chr16:71517800-71519000	Active TSS	Psoas Muscle	Psoas
39	chr16:71517800-71519000	Active TSS	Right Atrium	heart
40	chr16:71517800-71519000	Active TSS	Right Ventricle	heart
41	chr16:71517800-71519200	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr16:71517800-71519200	Active TSS	H9 Cell Line	embryonic stem cell
43	chr16:71517800-71519200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:71517800-71519200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:71517800-71519200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr16:71517800-71519200	Active TSS	Hela-S3	cervix
47	chr16:71518000-71518800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:71518000-71518800	Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr16:71518000-71518800	Active TSS	Primary B cells from peripheral blood	blood
50	chr16:71518000-71518800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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