Variant report

Variant	rs62047162
Chromosome Location	chr16:81349106-81349107
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr16:81348174-81349531	GM12878	blood:	n/a	n/a
2	CREB1	chr16:81348007-81349147	K562	blood:	n/a	n/a
3	MAZ	chr16:81348137-81349555	K562	blood:	n/a	n/a
4	ZBTB7A	chr16:81348687-81349516	K562	blood:	n/a	chr16:81349116-81349123
5	ZBTB7A	chr16:81348785-81349268	HepG2	liver:	n/a	chr16:81349116-81349123
6	POLR2A	chr16:81348112-81349487	MCF-7	breast:	n/a	n/a
7	HCFC1	chr16:81348160-81349599	K562	blood:	n/a	n/a
8	SMARCB1	chr16:81348176-81349546	Hela-S3	cervix:	n/a	n/a
9	TAF1	chr16:81348146-81349464	HepG2	liver:	n/a	n/a
10	POLR2A	chr16:81348002-81349338	HepG2	liver:	n/a	n/a
11	MAX	chr16:81348077-81349627	K562	blood:	n/a	n/a
12	ZBTB7A	chr16:81348331-81349496	ECC-1	luminal epithelium:	n/a	chr16:81349116-81349123
13	SIN3A	chr16:81347094-81349480	H1-hESC	embryonic stem cell:	n/a	chr16:81349182-81349195 chr16:81349360-81349373
14	SIN3AK20	chr16:81347289-81349895	MCF-7	breast:	n/a	n/a
15	CREB1	chr16:81348150-81349232	H1-hESC	embryonic stem cell:	n/a	n/a
16	UBTF	chr16:81348016-81349620	K562	blood:	n/a	n/a
17	POLR2A	chr16:81348155-81349478	IMR90	lung:	n/a	n/a
18	MXI1	chr16:81346949-81350033	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr16:81346947-81349653	H1-hESC	embryonic stem cell:	n/a	n/a
20	ELF1	chr16:81348811-81349457	K562	blood:	n/a	n/a
21	CREB1	chr16:81348110-81349209	K562	blood:	n/a	n/a
22	MAX	chr16:81347896-81349635	HepG2	liver:	n/a	n/a
23	RCOR1	chr16:81347380-81350098	IMR90	lung:	n/a	n/a
24	MXI1	chr16:81348023-81350044	IMR90	lung:	n/a	n/a
25	TAF1	chr16:81348227-81349121	HepG2	liver:	n/a	n/a
26	SIN3AK20	chr16:81348158-81349291	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr16:81348998-81349519	K562	blood:	n/a	n/a
28	MAX	chr16:81347992-81349576	HepG2	liver:	n/a	n/a
29	ZBTB7A	chr16:81348785-81349375	ECC-1	luminal epithelium:	n/a	chr16:81349116-81349123
30	CCNT2	chr16:81348052-81349528	K562	blood:	n/a	n/a
31	CREB1	chr16:81348029-81349654	HepG2	liver:	n/a	n/a
32	POLR2A	chr16:81348138-81349530	MCF10A-Er-Src	breast:	n/a	n/a
33	YY1	chr16:81348140-81349547	HepG2	liver:	n/a	chr16:81349307-81349321 chr16:81349370-81349379 chr16:81349047-81349061 chr16:81348704-81348718 chr16:81348708-81348728
34	MAX	chr16:81349100-81349711	MCF-7	breast:	n/a	n/a
35	HDAC2	chr16:81349077-81349542	HepG2	liver:	n/a	n/a
36	POLR2A	chr16:81348075-81349569	Hela-S3	cervix:	n/a	n/a
37	ZBTB7A	chr16:81348230-81349515	K562	blood:	n/a	chr16:81349116-81349123
38	HMGN3	chr16:81348285-81349479	K562	blood:	n/a	n/a
39	MXI1	chr16:81347871-81349532	HepG2	liver:	n/a	n/a
40	UBTF	chr16:81349077-81349572	K562	blood:	n/a	n/a
41	POLR2A	chr16:81349104-81349483	Hela-S3	cervix:	n/a	n/a
42	MAZ	chr16:81347813-81349705	IMR90	lung:	n/a	n/a
43	MYC	chr16:81347753-81349586	NB4	blood:	n/a	n/a
44	CREB1	chr16:81348060-81349202	H1-hESC	embryonic stem cell:	n/a	n/a
45	YY1	chr16:81348128-81349573	K562	blood:	n/a	chr16:81349307-81349321 chr16:81349370-81349379 chr16:81349047-81349061 chr16:81348704-81348718 chr16:81348708-81348728
46	CREB1	chr16:81348023-81349233	HepG2	liver:	n/a	n/a
47	REST	chr16:81347127-81349140	H1-neurons	neurons:	n/a	chr16:81348978-81348991 chr16:81348122-81348130
48	POLR2A	chr16:81348942-81349539	K562	blood:	n/a	n/a
49	ETS1	chr16:81348230-81349130	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:81349061-81349111	Jurkat	blood:	n/a
2	chr16:81349061-81349111	HIPEpiC	eye:	n/a
3	chr16:81349061-81349111	HPAEpiC	pulmonary alveolar:	n/a
4	chr16:81349061-81349111	MCF10A-Er-Src	breast:	n/a
5	chr16:81349061-81349111	Hepatocyte	liver:	n/a
6	chr16:81349061-81349111	CMK	blood:	n/a
7	chr16:81349061-81349111	HAEpiC	amniotic membrane:	n/a
8	chr16:81349061-81349111	GM12892	blood:	n/a
9	chr16:81349061-81349111	GM06990	blood:	n/a
10	chr16:81349061-81349111	NT2-D1	testis:	n/a
11	chr16:81349061-81349111	ECC-1	luminal epithelium:	n/a
12	chr16:81349061-81349111	GM12891	blood:	n/a
13	chr16:81349061-81349111	HL-60	blood:	n/a
14	chr16:81349061-81349111	SK-N-SH	brain:	n/a
15	chr16:81349061-81349111	AG09319	gingival:	n/a
16	chr16:81349061-81349111	U87	brain:	n/a
17	chr16:81349061-81349111	HepG2	liver:	n/a
18	chr16:81349061-81349111	NHBE	bronchial:	n/a
19	chr16:81349061-81349111	AG09309	skin:	n/a
20	chr16:81349061-81349111	GM19239	blood:	n/a
21	chr16:81349061-81349111	BE2_C	brain:	n/a
22	chr16:81349061-81349111	T-47D	breast:	n/a
23	chr16:81349061-81349111	BJ	skin:	n/a
24	chr16:81349061-81349111	A549	lung:	n/a
25	chr16:81349061-81349111	H1-hESC	embryonic stem cell:	embryo
26	chr16:81349061-81349111	NB4	blood:	n/a
27	chr16:81349061-81349111	MCF-7	breast:	n/a
28	chr16:81349061-81349111	NHDF-neo	bronchial:	n/a
29	chr16:81349061-81349111	LNCaP	prostate:	n/a
30	chr16:81349061-81349111	AG10803	skin:	n/a
31	chr16:81349061-81349111	ProgFib	skin:	n/a
32	chr16:81349061-81349111	SKMC	muscle:	n/a
33	chr16:81349061-81349111	AoSMC	blood vessel:	n/a
34	chr16:81349061-81349111	K562	blood:	n/a
35	chr16:81349061-81349111	Hela-S3	cervix:	n/a
36	chr16:81349061-81349111	AG04450	lung:	fetal
37	chr16:81349061-81349111	PFSK-1	brain:	n/a
38	chr16:81349061-81349111	HCT-116	colon:	n/a
39	chr16:81349061-81349111	SK-N-SH_RA	brain:	n/a
40	chr16:81349061-81349111	HRPEpiC	eye:	n/a
41	chr16:81349061-81349111	HCF	heart:	n/a
42	chr16:81349061-81349111	HMEC	breast:	n/a
43	chr16:81349061-81349111	Caco-2	colon:	n/a
44	chr16:81349061-81349111	ovcar-3	ovarian:	n/a
45	chr16:81349061-81349111	HRE	kidney:	n/a
46	chr16:81349061-81349111	HNPCEpiC	eye:	n/a
47	chr16:81349061-81349111	HEK293	kidney:	embryo
48	chr16:81349061-81349111	HCPEpiC	choroid plexus:	n/a
49	chr16:81349061-81349111	HRCEpiC	kidney:	n/a
50	chr16:81349061-81349111	HCM	heart:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81109518..81111024-chr16:81347327..81349963,2	K562	blood:
2	chr16:81348969..81350661-chr16:81387216..81389989,2	MCF-7	breast:
3	chr16:81038258..81040784-chr16:81347032..81349945,2	K562	blood:
4	chr16:81348181..81349165-chr7:152132447..152133006,2	Hela-S3	cervix:
5	chr16:81347539..81350872-chr16:81478035..81482618,4	MCF-7	breast:
6	chr16:81038653..81041025-chr16:81346635..81349129,2	MCF-7	breast:
7	chr16:81347950..81350114-chr16:81397372..81401433,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260495	TF binding region
ENSG00000260495	CpG island
ENSG00000153815	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000261609	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000055609	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12599564	0.96[EUR][1000 genomes]
rs9926795	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 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	chr16:81346600-81349400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr16:81346800-81349400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr16:81346800-81349400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr16:81346800-81349800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr16:81346800-81350200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr16:81347000-81349400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr16:81347000-81349600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:81347000-81349600	Active TSS	NHLF	lung
9	chr16:81347000-81349800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:81347000-81350000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr16:81347000-81350000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr16:81347000-81350200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:81347200-81349800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr16:81347200-81350000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr16:81347200-81350400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:81347400-81349200	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr16:81347400-81349400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr16:81347400-81349600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:81347400-81349800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:81347400-81350000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr16:81347600-81349400	Active TSS	Brain Angular Gyrus	brain
22	chr16:81347600-81349600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:81347600-81349600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr16:81347600-81349600	Active TSS	Fetal Kidney	kidney
25	chr16:81347600-81349600	Active TSS	HSMM	muscle
26	chr16:81347600-81349800	Active TSS	A549	lung
27	chr16:81347800-81349400	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr16:81347800-81349400	Active TSS	Small Intestine	intestine
29	chr16:81347800-81349400	Active TSS	GM12878-XiMat	blood
30	chr16:81347800-81349600	Active TSS	Brain Cingulate Gyrus	brain
31	chr16:81347800-81349600	Active TSS	Fetal Intestine Small	intestine
32	chr16:81347800-81349600	Active TSS	Gastric	stomach
33	chr16:81347800-81349600	Active TSS	Stomach Mucosa	stomach
34	chr16:81347800-81349600	Active TSS	Spleen	Spleen
35	chr16:81347800-81349600	Active TSS	NHDF-Ad	bronchial
36	chr16:81347800-81349800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:81347800-81349800	Active TSS	Fetal Muscle Trunk	muscle
38	chr16:81347800-81349800	Active TSS	Ovary	ovary
39	chr16:81347800-81349800	Active TSS	Placenta Amnion	Placenta Amnion
40	chr16:81347800-81350200	Active TSS	Right Atrium	heart
41	chr16:81347800-81350200	Active TSS	Right Ventricle	heart
42	chr16:81348000-81349200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:81348000-81349400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr16:81348000-81349400	Active TSS	Primary T cells from cord blood	blood
45	chr16:81348000-81349400	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr16:81348000-81349400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr16:81348000-81349400	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr16:81348000-81349400	Active TSS	Brain Anterior Caudate	brain
49	chr16:81348000-81349400	Active TSS	Brain Germinal Matrix	brain
50	chr16:81348000-81349400	Active TSS	Duodenum Smooth Muscle	Duodenum

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