Variant report

Variant	rs73593388
Chromosome Location	chr16:81040003-81040004
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	SIN3AK20	chr16:81039662-81041881	MCF-7	breast:	n/a	n/a
2	POLR2A	chr16:81039857-81041585	MCF-7	breast:	n/a	n/a
3	ZNF263	chr16:81039878-81041322	K562	blood:	n/a	n/a
4	SIN3AK20	chr16:81039787-81041482	PANC-1	pancreas:	n/a	n/a
5	MYC	chr16:81039860-81041565	K562	blood:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
6	FOXP2	chr16:81039975-81041265	PFSK-1	brain:	n/a	n/a
7	MYBL2	chr16:81039767-81041891	HepG2	liver:	n/a	n/a
8	UBTF	chr16:81039880-81041438	K562	blood:	n/a	n/a
9	MAX	chr16:81039886-81041471	Hela-S3	cervix:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
10	TAF1	chr16:81039916-81041400	K562	blood:	n/a	n/a
11	POLR2A	chr16:81039956-81041466	HepG2	liver:	n/a	n/a
12	ATF2	chr16:81039922-81041462	GM12878	blood:	n/a	chr16:81041078-81041089
13	MYC	chr16:81039979-81041326	MCF-7	breast:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
14	YY1	chr16:81039805-81041488	HepG2	liver:	n/a	chr16:81040203-81040214 chr16:81040518-81040532
15	POLR2A	chr16:81039918-81041465	ECC-1	luminal epithelium:	n/a	n/a
16	SMARCB1	chr16:81039905-81041472	Hela-S3	cervix:	n/a	n/a
17	E2F4	chr16:81039932-81041390	K562	blood:	n/a	chr16:81040835-81040846 chr16:81040519-81040528 chr16:81041080-81041089 chr16:81040797-81040809 chr16:81040798-81040809 chr16:81041078-81041087
18	MYC	chr16:81039945-81041273	MCF-7	breast:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
19	MAZ	chr16:81039856-81041414	K562	blood:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
20	TAF1	chr16:81039907-81041415	HepG2	liver:	n/a	n/a
21	RUNX3	chr16:81039963-81041749	GM12878	blood:	n/a	n/a
22	STAT1	chr16:81039999-81041723	GM12878	blood:	n/a	n/a
23	SIN3AK20	chr16:81039392-81041620	MCF-7	breast:	n/a	n/a
24	EGR1	chr16:81039887-81041342	ECC-1	luminal epithelium:	n/a	chr16:81041050-81041063 chr16:81040794-81040804 chr16:81041050-81041063 chr16:81040073-81040087 chr16:81041049-81041064 chr16:81041050-81041063 chr16:81040519-81040528
25	POLR2A	chr16:81039856-81041840	Hela-S3	cervix:	n/a	n/a
26	MYC	chr16:81039897-81041459	K562	blood:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
27	MAZ	chr16:81039865-81041435	Hela-S3	cervix:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
28	TBP	chr16:81039927-81041584	K562	blood:	n/a	n/a
29	MXI1	chr16:81039953-81041334	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAF1	chr16:81039907-81040586	Hela-S3	cervix:	n/a	n/a
31	ELF1	chr16:81039856-81041500	GM12878	blood:	n/a	n/a
32	TBP	chr16:81039297-81041451	Hela-S3	cervix:	n/a	n/a
33	USF1	chr16:81039826-81041608	HCT-116	colon:	n/a	chr16:81041154-81041165
34	ELF1	chr16:81039922-81041472	MCF-7	breast:	n/a	n/a
35	POLR2A	chr16:81039941-81041471	H1-neurons	neurons:	n/a	n/a
36	MTA3	chr16:81039800-81041878	GM12878	blood:	n/a	n/a
37	FOXA1	chr16:81039846-81040121	T-47D	breast:	n/a	n/a
38	RCOR1	chr16:81039990-81041454	Hela-S3	cervix:	n/a	n/a
39	ZBTB7A	chr16:81039924-81041315	K562	blood:	n/a	n/a
40	SIN3A	chr16:81039891-81041423	GM12878	blood:	n/a	chr16:81041064-81041077 chr16:81040175-81040188
41	MAFK	chr16:81039920-81041382	K562	blood:	n/a	n/a
42	EGR1	chr16:81039943-81040702	ECC-1	luminal epithelium:	n/a	chr16:81040073-81040087 chr16:81040519-81040528
43	POLR2A	chr16:81039828-81042424	MCF10A-Er-Src	breast:	n/a	n/a
44	MAX	chr16:81039752-81041497	K562	blood:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
45	ZNF143	chr16:81039978-81041419	GM12878	blood:	n/a	chr16:81041055-81041065
46	POLR2A	chr16:81039962-81041692	GM12878	blood:	n/a	n/a
47	POLR2A	chr16:81039946-81041899	GM12891	blood:	n/a	n/a
48	MAX	chr16:81039155-81041501	A549	lung:	n/a	chr16:81040795-81040805 chr16:81040695-81040704 chr16:81041155-81041164
49	TAF1	chr16:81039940-81041438	ECC-1	luminal epithelium:	n/a	n/a
50	HEY1	chr16:81039935-81041463	K562	blood:	n/a	chr16:81041078-81041087 chr16:81041080-81041089 chr16:81040141-81040156

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:81039969-81040019	ProgFib	skin:	n/a
2	chr16:81039969-81040019	AoSMC	blood vessel:	n/a
3	chr16:81039969-81040019	MCF10A-Er-Src	breast:	n/a
4	chr16:81039969-81040019	MCF-7	breast:	n/a
5	chr16:81039962-81040012	HIPEpiC	eye:	n/a
6	chr16:81039962-81040012	AG09319	gingival:	n/a
7	chr16:81039962-81040012	GM06990	blood:	n/a
8	chr16:81039962-81040012	NT2-D1	testis:	n/a
9	chr16:81039969-81040019	IMR90	lung:	fetal
10	chr16:81039969-81040019	HRE	kidney:	n/a
11	chr16:81039969-81040019	HRPEpiC	eye:	n/a
12	chr16:81039962-81040012	IMR90	lung:	fetal
13	chr16:81039962-81040012	U87	brain:	n/a
14	chr16:81039962-81040012	CMK	blood:	n/a
15	chr16:81039962-81040012	ProgFib	skin:	n/a
16	chr16:81039962-81040012	K562	blood:	n/a
17	chr16:81039969-81040019	SK-N-MC	brain:	n/a
18	chr16:81039969-81040019	NB4	blood:	n/a
19	chr16:81039969-81040019	SKMC	muscle:	n/a
20	chr16:81039962-81040012	PFSK-1	brain:	n/a
21	chr16:81039969-81040019	PFSK-1	brain:	n/a
22	chr16:81039969-81040019	U87	brain:	n/a
23	chr16:81039962-81040012	HEEpiC	esophagus:	n/a
24	chr16:81039962-81040012	MCF10A-Er-Src	breast:	n/a
25	chr16:81039969-81040019	GM12891	blood:	n/a
26	chr16:81039969-81040019	HMEC	breast:	n/a
27	chr16:81039962-81040012	HL-60	blood:	n/a
28	chr16:81039969-81040019	HEK293	kidney:	embryo
29	chr16:81039962-81040012	GM12892	blood:	n/a
30	chr16:81039962-81040012	BE2_C	brain:	n/a
31	chr16:81039962-81040012	SK-N-SH	brain:	n/a
32	chr16:81039962-81040012	GM12878	blood:	n/a
33	chr16:81039962-81040012	SK-N-MC	brain:	n/a
34	chr16:81039962-81040012	HepG2	liver:	n/a
35	chr16:81039962-81040012	ovcar-3	ovarian:	n/a
36	chr16:81039969-81040019	Hela-S3	cervix:	n/a
37	chr16:81039962-81040012	HCPEpiC	choroid plexus:	n/a
38	chr16:81039962-81040012	SAEC	small airway:	n/a
39	chr16:81039969-81040019	AG10803	skin:	n/a
40	chr16:81039962-81040012	Caco-2	colon:	n/a
41	chr16:81039969-81040019	BE2_C	brain:	n/a
42	chr16:81039962-81040012	Hepatocyte	liver:	n/a
43	chr16:81039962-81040012	HRPEpiC	eye:	n/a
44	chr16:81039969-81040019	K562	blood:	n/a
45	chr16:81039962-81040012	NHDF-neo	bronchial:	n/a
46	chr16:81039969-81040019	HUVEC	blood vessel:	n/a
47	chr16:81039969-81040019	HCT-116	colon:	n/a
48	chr16:81039962-81040012	PrEC	prostate:	n/a
49	chr16:81039969-81040019	HAEpiC	amniotic membrane:	n/a
50	chr16:81039969-81040019	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81025473..81027772-chr16:81037035..81041311,4	K562	blood:
2	chr16:81039925..81040655-chr16:81068862..81069785,3	MCF-7	breast:
3	chr16:81038258..81040784-chr16:81347032..81349945,2	K562	blood:
4	chr16:81038105..81044923-chr16:81066300..81070952,14	MCF-7	breast:
5	chr16:81037151..81044642-chr16:81065528..81070966,16	K562	blood:
6	chr16:81039964..81040749-chr7:21984789..21985767,2	Hela-S3	cervix:
7	chr16:81028135..81034571-chr16:81035246..81044200,13	K562	blood:
8	chr16:81039624..81041255-chr16:81107979..81110813,2	MCF-7	breast:
9	chr16:81038653..81041025-chr16:81346635..81349129,2	MCF-7	breast:
10	chr16:81037996..81043724-chr16:81066407..81071400,11	MCF-7	breast:
11	chr16:81038376..81042418-chr16:81108432..81111584,4	K562	blood:
12	chr16:81037094..81043910-chr16:81050858..81058489,11	MCF-7	breast:
13	chr16:81039002..81041272-chr16:81057250..81059847,2	MCF-7	breast:
14	chr16:81038376..81043277-chr16:81108432..81112403,6	K562	blood:
15	chr16:81038922..81040878-chr16:81128552..81130305,2	MCF-7	breast:
16	chr16:81037151..81042784-chr16:81066438..81073797,14	K562	blood:
17	chr1:156051144..156052645-chr16:81039463..81041221,2	MCF-7	breast:
18	chr16:81036155..81041262-chr16:81074086..81079875,7	K562	blood:
19	chr16:81039722..81044457-chr16:81106699..81112118,5	MCF-7	breast:

Variant related genes	Relation type
CENPN	TF binding region
CENPN	CpG island
ENSG00000261609	Chromatin interaction
ENSG00000254726	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000140905	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000260495	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000160789	Chromatin interaction
ENSG00000164649	Chromatin interaction
ENSG00000245059	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28825110	0.84[AFR][1000 genomes]
rs73593392	0.82[AFR][1000 genomes];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	chr16:81037800-81042000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr16:81037800-81042400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr16:81038200-81041800	Active TSS	Ovary	ovary
4	chr16:81038200-81041800	Active TSS	Hela-S3	cervix
5	chr16:81038200-81042000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:81038200-81042400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:81038400-81042000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr16:81038400-81042200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr16:81038400-81042200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:81038800-81041800	Active TSS	Left Ventricle	heart
11	chr16:81038800-81042000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:81038800-81042200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr16:81038800-81042200	Active TSS	A549	lung
14	chr16:81038800-81042400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr16:81039200-81040200	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr16:81039200-81040200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr16:81039200-81041800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:81039200-81041800	Active TSS	Stomach Mucosa	stomach
19	chr16:81039400-81041000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:81039400-81041600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
21	chr16:81039400-81041800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr16:81039400-81041800	Active TSS	Gastric	stomach
23	chr16:81039400-81042000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:81039400-81042200	Active TSS	Colonic Mucosa	Colon
25	chr16:81039400-81042400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr16:81039400-81042400	Active TSS	NHLF	lung
27	chr16:81039600-81041400	Active TSS	Placenta	Placenta
28	chr16:81039600-81041400	Active TSS	Stomach Smooth Muscle	stomach
29	chr16:81039600-81041600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:81039600-81041600	Active TSS	Fetal Muscle Leg	muscle
31	chr16:81039600-81041600	Active TSS	Right Ventricle	heart
32	chr16:81039600-81041800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:81039600-81041800	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr16:81039600-81041800	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr16:81039600-81041800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr16:81039600-81041800	Active TSS	Muscle Satellite Cultured Cells	--
37	chr16:81039600-81041800	Active TSS	Fetal Thymus	thymus
38	chr16:81039600-81041800	Active TSS	Lung	lung
39	chr16:81039600-81041800	Active TSS	Psoas Muscle	Psoas
40	chr16:81039600-81041800	Active TSS	Dnd41	blood
41	chr16:81039600-81041800	Active TSS	HMEC	breast
42	chr16:81039600-81041800	Active TSS	HUVEC	blood vessel
43	chr16:81039600-81041800	Active TSS	NHEK	skin
44	chr16:81039600-81042000	Active TSS	H1 Cell Line	embryonic stem cell
45	chr16:81039600-81042000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr16:81039600-81042000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr16:81039600-81042000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr16:81039600-81042000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:81039600-81042000	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr16:81039600-81042000	Active TSS	Brain Angular Gyrus	brain

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