Variant report

Variant	rs8057748
Chromosome Location	chr16:71518438-71518439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:367)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr16:71518042-71518632	A549	lung:	n/a	chr16:71518372-71518386
5	YY1	chr16:71518068-71518633	GM12878	blood:	n/a	chr16:71518372-71518386
6	STAT1	chr16:71518075-71518588	GM12878	blood:	n/a	n/a
7	CHD2	chr16:71518241-71518627	HepG2	liver:	n/a	n/a
8	REST	chr16:71518333-71518539	Hela-S3	cervix:	n/a	chr16:71518360-71518370
9	YY1	chr16:71517985-71518699	SK-N-SH_RA	brain:	n/a	chr16:71518372-71518386
10	YY1	chr16:71518092-71518648	GM12891	blood:	n/a	chr16:71518372-71518386
11	HEY1	chr16:71517783-71518854	HepG2	liver:	n/a	n/a
12	JUND	chr16:71517947-71518782	K562	blood:	n/a	n/a
13	TAF1	chr16:71518035-71518706	A549	lung:	n/a	n/a
14	POLR2A	chr16:71517208-71519054	IMR90	lung:	n/a	n/a
15	POLR2A	chr16:71517657-71518803	HepG2	liver:	n/a	n/a
16	POLR2A	chr16:71517359-71518934	GM12891	blood:	n/a	n/a
17	ELF1	chr16:71517957-71518662	K562	blood:	n/a	n/a
18	ELK1	chr16:71518426-71518678	Hela-S3	cervix:	n/a	n/a
19	TAF1	chr16:71517910-71518812	H1-hESC	embryonic stem cell:	n/a	n/a
20	IRF1	chr16:71517958-71518739	K562	blood:	n/a	chr16:71518495-71518509 chr16:71518500-71518511 chr16:71518499-71518509
21	ZNF143	chr16:71517990-71518864	K562	blood:	n/a	chr16:71518279-71518297
22	MYC	chr16:71518373-71518654	HepG2	liver:	n/a	n/a
23	POLR2A	chr16:71517871-71518734	MCF10A-Er-Src	breast:	n/a	n/a
24	TAF7	chr16:71518107-71518598	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr16:71517882-71518666	GM12878	blood:	n/a	n/a
26	YY1	chr16:71518028-71518672	HCT-116	colon:	n/a	chr16:71518372-71518386
27	SP1	chr16:71517868-71518726	H1-hESC	embryonic stem cell:	n/a	n/a
28	ELF1	chr16:71517919-71518731	GM12878	blood:	n/a	n/a
29	SPI1	chr16:71518350-71518697	HL-60	blood:	n/a	n/a
30	POLR2A	chr16:71517175-71518897	GM12878	blood:	n/a	n/a
31	MAX	chr16:71517665-71518787	HepG2	liver:	n/a	chr16:71518305-71518314
32	BACH1	chr16:71518381-71518772	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr16:71517982-71518847	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr16:71517927-71518733	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr16:71518110-71518710	Hela-S3	cervix:	n/a	n/a
36	MAX	chr16:71517916-71518851	MCF-7	breast:	n/a	chr16:71518305-71518314
37	SP2	chr16:71517807-71518874	HepG2	liver:	n/a	n/a
38	POLR2A	chr16:71517981-71518773	GM18951	blood:	n/a	n/a
39	GABPA	chr16:71517924-71519007	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr16:71517858-71518779	GM12892	blood:	n/a	n/a
41	POLR2A	chr16:71517910-71518809	K562	blood:	n/a	n/a
42	EP300	chr16:71517768-71518749	GM12878	blood:	n/a	chr16:71518360-71518376
43	ELF1	chr16:71518038-71518444	K562	blood:	n/a	n/a
44	POLR2A	chr16:71518227-71518781	SK-N-MC	brain:	n/a	n/a
45	CREB1	chr16:71517772-71518971	HepG2	liver:	n/a	n/a
46	POLR2A	chr16:71517924-71518716	HCT-116	colon:	n/a	n/a
47	MAZ	chr16:71517842-71518851	GM12878	blood:	n/a	chr16:71518305-71518314
48	CREB1	chr16:71517885-71518863	GM12878	blood:	n/a	n/a
49	TAF1	chr16:71517860-71518827	H1-neurons	neurons:	n/a	n/a
50	NFIC	chr16:71517987-71518825	GM12878	blood:	n/a	n/a

No data

(count:15 , 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	chr16:71518012..71518522-chr6:30710466..30711392,2	HCT-116	colon:
5	chr16:71495690..71496577-chr16:71518159..71519385,6	MCF-7	breast:
6	chr16:71516991..71518687-chr16:71598041..71600179,2	K562	blood:
7	chr16:71492243..71500079-chr16:71512817..71521299,31	MCF-7	breast:
8	chr16:71515385..71518984-chr16:71658944..71661712,3	MCF-7	breast:
9	chr16:71495699..71496606-chr16:71517751..71518756,7	MCF-7	breast:
10	chr16:71494034..71497645-chr16:71516569..71520102,12	K562	blood:
11	chr16:71515755..71518920-chr16:71520634..71524924,4	K562	blood:
12	chr16:71321486..71324307-chr16:71517654..71519525,2	MCF-7	breast:
13	chr16:71492651..71498511-chr16:71515020..71523604,17	K562	blood:
14	chr16:71517111..71518667-chr16:71521366..71523864,2	K562	blood:
15	chr16:71517404..71519756-chr16:71521184..71524689,3	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF19	TF binding region
ENSG00000260593	Chromatin interaction
ENSG00000167377	Chromatin interaction
ENSG00000247324	Chromatin interaction
ENSG00000261611	Chromatin interaction
ENSG00000157429	Chromatin interaction
ENSG00000180917	Chromatin interaction
ENSG00000140832	Chromatin interaction
ENSG00000260886	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000272273	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16973266	1.00[YRI][hapmap]
rs55780045	1.00[AFR][1000 genomes]
rs58170592	1.00[AFR][1000 genomes]
rs74027245	1.00[AFR][1000 genomes]
rs8055085	1.00[AFR][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:127 , 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	chr16:71517800-71518600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:71517800-71518600	Active TSS	Lung	lung
17	chr16:71517800-71518800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:71517800-71518800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr16:71517800-71518800	Active TSS	Primary B cells from cord blood	blood
20	chr16:71517800-71518800	Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr16:71517800-71518800	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr16:71517800-71518800	Active TSS	Colon Smooth Muscle	Colon
23	chr16:71517800-71518800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr16:71517800-71518800	Active TSS	Esophagus	oesophagus
25	chr16:71517800-71518800	Active TSS	Pancreas	Pancrea
26	chr16:71517800-71519000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr16:71517800-71519000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr16:71517800-71519000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr16:71517800-71519000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr16:71517800-71519000	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr16:71517800-71519000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:71517800-71519000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr16:71517800-71519000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr16:71517800-71519000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr16:71517800-71519000	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr16:71517800-71519000	Active TSS	Aorta	Aorta
37	chr16:71517800-71519000	Active TSS	Colonic Mucosa	Colon
38	chr16:71517800-71519000	Active TSS	Left Ventricle	heart
39	chr16:71517800-71519000	Active TSS	Ovary	ovary
40	chr16:71517800-71519000	Active TSS	Psoas Muscle	Psoas
41	chr16:71517800-71519000	Active TSS	Right Atrium	heart
42	chr16:71517800-71519000	Active TSS	Right Ventricle	heart
43	chr16:71517800-71519200	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr16:71517800-71519200	Active TSS	H9 Cell Line	embryonic stem cell
45	chr16:71517800-71519200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr16:71517800-71519200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr16:71517800-71519200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr16:71517800-71519200	Active TSS	Hela-S3	cervix
49	chr16:71518000-71518600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr16:71518000-71518600	Active TSS	Primary T helper naive cells from peripheral blood	blood

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