Variant report

Variant	rs73861286
Chromosome Location	chr4:152330039-152330040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:245)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr4:152329548-152330545	H1-hESC	embryonic stem cell:	n/a	chr4:152330312-152330322 chr4:152329635-152329645
2	MAZ	chr4:152329701-152331332	Hela-S3	cervix:	n/a	chr4:152330312-152330322
3	POLR2A	chr4:152329873-152330140	GM12878	blood:	n/a	n/a
4	RCOR1	chr4:152329862-152330129	K562	blood:	n/a	n/a
5	GTF2F1	chr4:152329878-152330154	H1-hESC	embryonic stem cell:	n/a	n/a
6	STAT3	chr4:152329934-152330067	MCF10A-Er-Src	breast:	n/a	n/a
7	MAX	chr4:152330012-152330201	K562	blood:	n/a	n/a
8	MAX	chr4:152329853-152330122	H1-hESC	embryonic stem cell:	n/a	n/a
9	EBF1	chr4:152328873-152330169	GM12878	blood:	n/a	n/a
10	MYC	chr4:152329875-152330178	HepG2	liver:	n/a	n/a
11	ZEB1	chr4:152329732-152330294	GM12878	blood:	n/a	n/a
12	CTCF	chr4:152329900-152330050	WERI-Rb-1	eye:	n/a	n/a
13	POLR2A	chr4:152329787-152330150	U87	brain:	n/a	n/a
14	MAZ	chr4:152329899-152330495	HepG2	liver:	n/a	chr4:152330312-152330322
15	POLR2A	chr4:152329822-152330162	HCT-116	colon:	n/a	n/a
16	CHD2	chr4:152329906-152330052	HepG2	liver:	n/a	n/a
17	CREB1	chr4:152329830-152330493	H1-hESC	embryonic stem cell:	n/a	n/a
18	MXI1	chr4:152329467-152330495	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr4:152329847-152330073	GM12891	blood:	n/a	n/a
20	POLR2A	chr4:152329393-152330474	GM19193	blood:	n/a	n/a
21	BACH1	chr4:152329039-152330143	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr4:152329920-152330070	GM12875	blood:	n/a	n/a
23	RFX5	chr4:152329845-152330094	HepG2	liver:	n/a	n/a
24	MAFF	chr4:152329701-152330068	HepG2	liver:	n/a	chr4:152329759-152329777
25	RAD21	chr4:152329787-152330095	HepG2	liver:	n/a	n/a
26	GTF2F1	chr4:152329778-152330112	Hela-S3	cervix:	n/a	n/a
27	MYC	chr4:152329900-152330266	K562	blood:	n/a	n/a
28	MAX	chr4:152329490-152330650	ECC-1	luminal epithelium:	n/a	chr4:152330312-152330322 chr4:152329635-152329645
29	ZNF143	chr4:152329851-152330109	GM12878	blood:	n/a	n/a
30	POLR2A	chr4:152329760-152330551	HepG2	liver:	n/a	n/a
31	FOXA1	chr4:152329831-152330147	T-47D	breast:	n/a	n/a
32	CTCF	chr4:152329771-152330050	IMR90	lung:	n/a	n/a
33	TAF1	chr4:152329471-152330197	H1-hESC	embryonic stem cell:	n/a	n/a
34	SIN3A	chr4:152328913-152331560	H1-hESC	embryonic stem cell:	n/a	chr4:152330620-152330628 chr4:152330621-152330634
35	POLR2A	chr4:152329344-152331526	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr4:152329900-152330050	HUVEC	blood vessel:	n/a	n/a
37	RFX5	chr4:152329871-152330040	GM12878	blood:	n/a	n/a
38	NRF1	chr4:152329983-152330184	K562	blood:	n/a	n/a
39	E2F4	chr4:152329653-152330506	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr4:152329857-152330090	GM12878	blood:	n/a	n/a
41	HMGN3	chr4:152329787-152330246	K562	blood:	n/a	n/a
42	POLR2A	chr4:152329672-152330166	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr4:152329900-152330050	NHEK	skin:	n/a	n/a
44	CTCF	chr4:152329900-152330050	HPAF	blood vessel:	n/a	n/a
45	STAT3	chr4:152329705-152330074	MCF10A-Er-Src	breast:	n/a	n/a
46	TCF12	chr4:152329823-152330203	GM12878	blood:	n/a	n/a
47	CTCF	chr4:152329719-152330248	K562	blood:	n/a	n/a
48	REST	chr4:152329733-152330101	HepG2	liver:	n/a	n/a
49	EP300	chr4:152329877-152330070	HepG2	liver:	n/a	n/a
50	SIN3AK20	chr4:152329835-152330149	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:152330012-152330062	GM06990	blood:	n/a
2	chr4:152330012-152330062	GM19239	blood:	n/a
3	chr4:152330012-152330062	BJ	skin:	n/a
4	chr4:152330012-152330062	NB4	blood:	n/a
5	chr4:152330012-152330062	SK-N-SH	brain:	n/a
6	chr4:152330012-152330062	SKMC	muscle:	n/a
7	chr4:152330012-152330062	SK-N-MC	brain:	n/a
8	chr4:152330012-152330062	HRPEpiC	eye:	n/a
9	chr4:152330012-152330062	Hepatocyte	liver:	n/a
10	chr4:152330012-152330062	A549	lung:	n/a
11	chr4:152330012-152330062	AG10803	skin:	n/a
12	chr4:152330012-152330062	HNPCEpiC	eye:	n/a
13	chr4:152330012-152330062	AoSMC	blood vessel:	n/a
14	chr4:152330012-152330062	HMEC	breast:	n/a
15	chr4:152330012-152330062	MCF10A-Er-Src	breast:	n/a
16	chr4:152330012-152330062	HCPEpiC	choroid plexus:	n/a
17	chr4:152330012-152330062	HCF	heart:	n/a
18	chr4:152330012-152330062	HepG2	liver:	n/a
19	chr4:152330012-152330062	Hela-S3	cervix:	n/a
20	chr4:152330012-152330062	Caco-2	colon:	n/a
21	chr4:152330012-152330062	ProgFib	skin:	n/a
22	chr4:152330012-152330062	RPTEC	kidney:	n/a
23	chr4:152330012-152330062	NH-A	brain:	n/a
24	chr4:152330012-152330062	CMK	blood:	n/a
25	chr4:152330012-152330062	HPAEpiC	pulmonary alveolar:	n/a
26	chr4:152330012-152330062	HL-60	blood:	n/a
27	chr4:152330012-152330062	HEEpiC	esophagus:	n/a
28	chr4:152330012-152330062	IMR90	lung:	fetal
29	chr4:152330012-152330062	SK-N-SH_RA	brain:	n/a
30	chr4:152330012-152330062	MCF-7	breast:	n/a
31	chr4:152330012-152330062	NHBE	bronchial:	n/a
32	chr4:152330012-152330062	AG09309	skin:	n/a
33	chr4:152330012-152330062	HRCEpiC	kidney:	n/a
34	chr4:152330012-152330062	LNCaP	prostate:	n/a
35	chr4:152330012-152330062	NHDF-neo	bronchial:	n/a
36	chr4:152330012-152330062	BE2_C	brain:	n/a
37	chr4:152330012-152330062	U87	brain:	n/a
38	chr4:152330012-152330062	HUVEC	blood vessel:	n/a
39	chr4:152330012-152330062	H1-hESC	embryonic stem cell:	embryo
40	chr4:152330012-152330062	HEK293	kidney:	embryo
41	chr4:152330012-152330062	AG09319	gingival:	n/a
42	chr4:152330012-152330062	ECC-1	luminal epithelium:	n/a
43	chr4:152330012-152330062	T-47D	breast:	n/a
44	chr4:152330012-152330062	GM12892	blood:	n/a
45	chr4:152330012-152330062	PrEC	prostate:	n/a
46	chr4:152330012-152330062	K562	blood:	n/a
47	chr4:152330012-152330062	PFSK-1	brain:	n/a
48	chr4:152330012-152330062	HAEpiC	amniotic membrane:	n/a
49	chr4:152330012-152330062	PANC-1	pancreas:	n/a
50	chr4:152330012-152330062	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:152329542..152330364-chr6:26026932..26027811,2	Hela-S3	cervix:
2	chr4:152019364..152021476-chr4:152328335..152331101,2	MCF-7	breast:
3	chr4:152245112..152247146-chr4:152328940..152330768,2	MCF-7	breast:
4	chr4:152244677..152247078-chr4:152328782..152331586,3	MCF-7	breast:
5	chr1:109288999..109289870-chr4:152329601..152330413,2	Hela-S3	cervix:
6	chr4:152329639..152330392-chr8:130951751..130952461,2	HCT-116	colon:
7	chr1:89149595..89150508-chr4:152329195..152330084,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
FAM160A1	TF binding region
ENSG00000251611	TF binding region
ENSG00000251611	CpG island
FAM160A1	CpG island
ENSG00000116266	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000145425	Chromatin interaction
ENSG00000109686	Chromatin interaction
ENSG00000065243	Chromatin interaction
ENSG00000253720	Chromatin interaction
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10005764	1.00[EUR][1000 genomes]
rs17027541	1.00[EUR][1000 genomes]
rs17027575	1.00[EUR][1000 genomes]
rs2034062	1.00[EUR][1000 genomes]
rs2034063	1.00[EUR][1000 genomes]
rs28401367	1.00[EUR][1000 genomes]
rs28493533	1.00[EUR][1000 genomes]
rs28658039	1.00[EUR][1000 genomes]
rs28791569	1.00[EUR][1000 genomes]
rs28836884	1.00[EUR][1000 genomes]
rs56681758	1.00[EUR][1000 genomes]
rs58602547	1.00[EUR][1000 genomes]
rs59043107	1.00[EUR][1000 genomes]
rs60162090	1.00[EUR][1000 genomes]
rs6855493	1.00[EUR][1000 genomes]
rs727313	1.00[EUR][1000 genomes]
rs72967593	1.00[EUR][1000 genomes]
rs73861187	1.00[EUR][1000 genomes]
rs73861817	1.00[EUR][1000 genomes]
rs73861820	1.00[EUR][1000 genomes]
rs73861828	1.00[EUR][1000 genomes]
rs73861829	1.00[EUR][1000 genomes]
rs73861840	1.00[EUR][1000 genomes]
rs73861849	1.00[EUR][1000 genomes]
rs73861862	1.00[EUR][1000 genomes]
rs9968310	1.00[EUR][1000 genomes]
rs9991362	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1025192	chr4:152202627-152498890	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv537307	chr4:152202627-152498890	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv880624	chr4:152280646-152549112	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv822774	chr4:152329489-152330642	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152328600-152331400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr4:152328800-152330200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:152328800-152331600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr4:152328800-152332000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr4:152329000-152330200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
6	chr4:152329000-152330200	Flanking Bivalent TSS/Enh	Dnd41	blood
7	chr4:152329000-152330400	Active TSS	Colonic Mucosa	Colon
8	chr4:152329000-152330800	Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr4:152329000-152331200	Active TSS	Brain Hippocampus Middle	brain
10	chr4:152329000-152331200	Active TSS	Stomach Mucosa	stomach
11	chr4:152329000-152331400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr4:152329000-152331400	Active TSS	Fetal Kidney	kidney
13	chr4:152329000-152331600	Active TSS	Gastric	stomach
14	chr4:152329000-152331800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:152329000-152331800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr4:152329000-152331800	Active TSS	Esophagus	oesophagus
17	chr4:152329000-152332000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr4:152329000-152333000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr4:152329200-152330600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr4:152329200-152330800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:152329200-152330800	Active TSS	Brain Angular Gyrus	brain
22	chr4:152329200-152330800	Active TSS	Brain Anterior Caudate	brain
23	chr4:152329200-152330800	Active TSS	Brain Cingulate Gyrus	brain
24	chr4:152329200-152331400	Active TSS	Psoas Muscle	Psoas
25	chr4:152329200-152331600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:152329400-152330200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:152329400-152330200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:152329400-152330200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
29	chr4:152329400-152330400	Active TSS	HSMMtube	muscle
30	chr4:152329400-152330600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr4:152329400-152330600	Bivalent/Poised TSS	NHDF-Ad	bronchial
32	chr4:152329400-152330800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:152329400-152330800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:152329400-152330800	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr4:152329400-152330800	Bivalent/Poised TSS	NHLF	lung
36	chr4:152329400-152331000	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr4:152329400-152331200	Active TSS	Aorta	Aorta
38	chr4:152329400-152331200	Active TSS	Fetal Intestine Small	intestine
39	chr4:152329400-152331200	Active TSS	Right Atrium	heart
40	chr4:152329400-152332200	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr4:152329600-152330200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
42	chr4:152329600-152330400	Bivalent/Poised TSS	Fetal Stomach	stomach
43	chr4:152329600-152330600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:152329600-152330600	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chr4:152329600-152330600	Active TSS	Stomach Smooth Muscle	stomach
46	chr4:152329600-152330800	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr4:152329600-152330800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:152329600-152330800	Active TSS	Brain Substantia Nigra	brain
49	chr4:152329600-152330800	Active TSS	Lung	lung
50	chr4:152329600-152330800	Active TSS	A549	lung

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