Variant report

Variant	rs74028895
Chromosome Location	chr16:81039475-81039476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr16:81039121-81039612	K562	blood:	n/a	n/a
2	TEAD4	chr16:81039232-81039678	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3AK20	chr16:81039392-81041620	MCF-7	breast:	n/a	n/a
4	TBP	chr16:81039297-81041451	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr16:81039386-81039552	K562	blood:	n/a	n/a
6	MAX	chr16:81039155-81041501	A549	lung:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
7	TBL1XR1	chr16:81039437-81039619	K562	blood:	n/a	n/a
8	BHLHE40	chr16:81039238-81039522	K562	blood:	n/a	n/a
9	POLR2A	chr16:81039052-81041720	H1-hESC	embryonic stem cell:	n/a	n/a
10	JUND	chr16:81039279-81042090	SK-N-SH	brain:	n/a	chr16:81041079-81041088
11	WRNIP1	chr16:81039162-81039575	GM12878	blood:	n/a	n/a
12	SIN3A	chr16:81039358-81041579	H1-hESC	embryonic stem cell:	n/a	chr16:81041064-81041077 chr16:81040175-81040188
13	SIN3AK20	chr16:81039313-81041611	HCT-116	colon:	n/a	n/a
14	IRF1	chr16:81039214-81041494	K562	blood:	n/a	chr16:81039570-81039584 chr16:81039573-81039587 chr16:81041214-81041225 chr16:81041214-81041226 chr16:81039575-81039591 chr16:81039572-81039585 chr16:81041214-81041226 chr16:81039572-81039586 chr16:81040780-81040794
15	MAX	chr16:81039205-81039664	Hela-S3	cervix:	n/a	n/a
16	MXI1	chr16:81039314-81041465	GM12878	blood:	n/a	n/a
17	POLR2A	chr16:81039134-81041558	Hela-S3	cervix:	n/a	n/a
18	JUN	chr16:81039044-81041495	K562	blood:	n/a	chr16:81041079-81041088 chr16:81041078-81041091
19	MXI1	chr16:81039306-81039642	HepG2	liver:	n/a	n/a
20	MXI1	chr16:81039145-81042276	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr16:81039366-81039590	HepG2	liver:	n/a	n/a
22	MYC	chr16:81039339-81039836	MCF10A-Er-Src	breast:	n/a	n/a
23	SMARCC1	chr16:81039221-81041876	Hela-S3	cervix:	n/a	n/a
24	MAX	chr16:81039347-81041493	NB4	blood:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
25	IRF1	chr16:81039242-81041462	K562	blood:	n/a	chr16:81039570-81039584 chr16:81039573-81039587 chr16:81041214-81041225 chr16:81041214-81041226 chr16:81039575-81039591 chr16:81039572-81039585 chr16:81041214-81041226 chr16:81039572-81039586 chr16:81040780-81040794
26	MYC	chr16:81039412-81039603	K562	blood:	n/a	n/a
27	POLR2A	chr16:81038829-81041850	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr16:81039436-81039552	MCF10A-Er-Src	breast:	n/a	n/a
29	HCFC1	chr16:81039075-81042051	Hela-S3	cervix:	n/a	n/a
30	MXI1	chr16:81039325-81039712	Hela-S3	cervix:	n/a	n/a
31	MAX	chr16:81039294-81039602	K562	blood:	n/a	n/a
32	MAX	chr16:81039354-81039574	H1-hESC	embryonic stem cell:	n/a	n/a
33	TEAD4	chr16:81039194-81040285	HepG2	liver:	n/a	n/a
34	MAX	chr16:81039205-81039688	K562	blood:	n/a	n/a
35	MXI1	chr16:81039305-81039578	K562	blood:	n/a	n/a
36	CUX1	chr16:81039370-81039475	K562	blood:	n/a	n/a
37	ZNF263	chr16:81039285-81041416	HEK293-T-REx	kidney:	n/a	n/a
38	POLR2A	chr16:81039405-81039684	GM12878	blood:	n/a	n/a
39	CHD1	chr16:81039191-81042059	IMR90	lung:	n/a	chr16:81041086-81041096

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:81039458-81039508	SK-N-SH_RA	brain:	n/a
2	chr16:81039458-81039508	HL-60	blood:	n/a
3	chr16:81039458-81039508	GM12878	blood:	n/a
4	chr16:81039458-81039508	H1-hESC	embryonic stem cell:	embryo
5	chr16:81039458-81039508	GM19239	blood:	n/a
6	chr16:81039458-81039508	SKMC	muscle:	n/a
7	chr16:81039458-81039508	Hepatocyte	liver:	n/a
8	chr16:81039458-81039508	Hela-S3	cervix:	n/a
9	chr16:81039458-81039508	NH-A	brain:	n/a
10	chr16:81039458-81039508	HRPEpiC	eye:	n/a
11	chr16:81039458-81039508	GM12891	blood:	n/a
12	chr16:81039458-81039508	HNPCEpiC	eye:	n/a
13	chr16:81039458-81039508	HCF	heart:	n/a
14	chr16:81039458-81039508	HMEC	breast:	n/a
15	chr16:81039458-81039508	AG04449	skin:	fetal
16	chr16:81039458-81039508	U87	brain:	n/a
17	chr16:81039458-81039508	MCF10A-Er-Src	breast:	n/a
18	chr16:81039458-81039508	K562	blood:	n/a
19	chr16:81039458-81039508	AoSMC	blood vessel:	n/a
20	chr16:81039458-81039508	AG09319	gingival:	n/a
21	chr16:81039458-81039508	ECC-1	luminal epithelium:	n/a
22	chr16:81039458-81039508	PrEC	prostate:	n/a
23	chr16:81039458-81039508	AG04450	lung:	fetal
24	chr16:81039458-81039508	HEK293	kidney:	embryo
25	chr16:81039458-81039508	ProgFib	skin:	n/a
26	chr16:81039458-81039508	T-47D	breast:	n/a
27	chr16:81039458-81039508	SK-N-SH	brain:	n/a
28	chr16:81039458-81039508	HAEpiC	amniotic membrane:	n/a
29	chr16:81039458-81039508	GM06990	blood:	n/a
30	chr16:81039458-81039508	HCM	heart:	n/a
31	chr16:81039458-81039508	HCPEpiC	choroid plexus:	n/a
32	chr16:81039458-81039508	RPTEC	kidney:	n/a
33	chr16:81039458-81039508	LNCaP	prostate:	n/a
34	chr16:81039458-81039508	GM12892	blood:	n/a
35	chr16:81039458-81039508	Jurkat	blood:	n/a
36	chr16:81039458-81039508	Caco-2	colon:	n/a
37	chr16:81039458-81039508	ovcar-3	ovarian:	n/a
38	chr16:81039458-81039508	IMR90	lung:	fetal
39	chr16:81039458-81039508	BJ	skin:	n/a
40	chr16:81039458-81039508	A549	lung:	n/a
41	chr16:81039458-81039508	NT2-D1	testis:	n/a
42	chr16:81039458-81039508	NHBE	bronchial:	n/a
43	chr16:81039458-81039508	AG10803	skin:	n/a
44	chr16:81039458-81039508	MCF-7	breast:	n/a
45	chr16:81039458-81039508	HEEpiC	esophagus:	n/a
46	chr16:81039458-81039508	NHDF-neo	bronchial:	n/a
47	chr16:81039458-81039508	PFSK-1	brain:	n/a
48	chr16:81039458-81039508	HPAEpiC	pulmonary alveolar:	n/a
49	chr16:81039458-81039508	CMK	blood:	n/a
50	chr16:81039458-81039508	AG09309	skin:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81025473..81027772-chr16:81037035..81041311,4	K562	blood:
2	chr16:81038258..81040784-chr16:81347032..81349945,2	K562	blood:
3	chr16:81038105..81044923-chr16:81066300..81070952,14	MCF-7	breast:
4	chr16:81037151..81044642-chr16:81065528..81070966,16	K562	blood:
5	chr16:81028135..81034571-chr16:81035246..81044200,13	K562	blood:
6	chr16:81038653..81041025-chr16:81346635..81349129,2	MCF-7	breast:
7	chr16:81037996..81043724-chr16:81066407..81071400,11	MCF-7	breast:
8	chr16:81038376..81042418-chr16:81108432..81111584,4	K562	blood:
9	chr16:81037094..81043910-chr16:81050858..81058489,11	MCF-7	breast:
10	chr16:81039002..81041272-chr16:81057250..81059847,2	MCF-7	breast:
11	chr16:81038376..81043277-chr16:81108432..81112403,6	K562	blood:
12	chr16:81038922..81040878-chr16:81128552..81130305,2	MCF-7	breast:
13	chr16:81037151..81042784-chr16:81066438..81073797,14	K562	blood:
14	chr1:156051144..156052645-chr16:81039463..81041221,2	MCF-7	breast:
15	chr16:81036155..81041262-chr16:81074086..81079875,7	K562	blood:

No data

Variant related genes	Relation type
CENPN	TF binding region
CENPN	CpG island
ENSG00000103121	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000140905	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000160789	Chromatin interaction
ENSG00000261609	Chromatin interaction
ENSG00000254726	Chromatin interaction
ENSG00000260495	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000166451	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16954334	1.00[AMR][1000 genomes]
rs74028900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9938262	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1058045	chr16:80918138-81048242	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 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	chr16:81037200-81039600	Flanking Active TSS	Dnd41	blood
2	chr16:81037600-81039600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:81037600-81039600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr16:81037600-81039600	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr16:81037600-81039800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:81037600-81039800	Enhancers	Small Intestine	intestine
7	chr16:81037600-81040000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:81037800-81039600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr16:81037800-81039600	Flanking Active TSS	HUVEC	blood vessel
10	chr16:81037800-81040000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:81037800-81040000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:81037800-81042000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr16:81037800-81042400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:81038000-81039800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr16:81038000-81040000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr16:81038200-81041800	Active TSS	Ovary	ovary
17	chr16:81038200-81041800	Active TSS	Hela-S3	cervix
18	chr16:81038200-81042000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:81038200-81042400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr16:81038400-81042000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr16:81038400-81042200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr16:81038400-81042200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:81038600-81039600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr16:81038600-81039800	Flanking Active TSS	NH-A	brain
25	chr16:81038600-81040000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr16:81038800-81039600	Flanking Active TSS	Placenta	Placenta
27	chr16:81038800-81039800	Enhancers	Spleen	Spleen
28	chr16:81038800-81041800	Active TSS	Left Ventricle	heart
29	chr16:81038800-81042000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr16:81038800-81042200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr16:81038800-81042200	Active TSS	A549	lung
32	chr16:81038800-81042400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr16:81039000-81039600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr16:81039000-81039600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr16:81039000-81039600	Flanking Active TSS	HMEC	breast
36	chr16:81039000-81039600	Flanking Active TSS	HSMM	muscle
37	chr16:81039000-81039600	Flanking Active TSS	NHDF-Ad	bronchial
38	chr16:81039000-81039800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr16:81039000-81039800	Flanking Active TSS	Thymus	Thymus
40	chr16:81039000-81040000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr16:81039200-81039600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr16:81039200-81039600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr16:81039200-81039600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr16:81039200-81039600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr16:81039200-81039600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr16:81039200-81039600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr16:81039200-81039600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr16:81039200-81039600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr16:81039200-81039600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr16:81039200-81039600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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