Variant report

Variant	rs60852580
Chromosome Location	chr14:45366931-45366932
allele	G/T
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	POLR2A	chr14:45366720-45367277	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr14:45366130-45367270	ECC-1	luminal epithelium:	n/a	chr14:45367078-45367087 chr14:45367078-45367088 chr14:45366892-45366902
3	MYC	chr14:45366227-45367268	MCF10A-Er-Src	breast:	n/a	chr14:45367078-45367087 chr14:45367078-45367088 chr14:45366892-45366902
4	MAX	chr14:45366101-45367312	HepG2	liver:	n/a	chr14:45367078-45367087 chr14:45367078-45367088 chr14:45366892-45366902
5	POLR2A	chr14:45366328-45367302	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:45366207-45367259	GM19193	blood:	n/a	n/a
7	POLR2A	chr14:45366408-45367222	HCT-116	colon:	n/a	n/a
8	YY1	chr14:45366416-45367184	ECC-1	luminal epithelium:	n/a	chr14:45366720-45366731 chr14:45366465-45366476 chr14:45366967-45366978 chr14:45366585-45366599 chr14:45366722-45366731 chr14:45366719-45366728 chr14:45366579-45366593 chr14:45366586-45366600 chr14:45366894-45366903 chr14:45366722-45366736 chr14:45366716-45366730
9	SIN3A	chr14:45366154-45367375	H1-hESC	embryonic stem cell:	n/a	chr14:45366967-45366980 chr14:45366565-45366574 chr14:45367006-45367019 chr14:45366851-45366865
10	POLR2A	chr14:45366162-45367265	ECC-1	luminal epithelium:	n/a	n/a
11	NRF1	chr14:45366843-45367043	GM12878	blood:	n/a	n/a
12	E2F4	chr14:45366928-45367203	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr14:45366215-45367289	HCT-116	colon:	n/a	n/a
14	MYBL2	chr14:45366809-45367272	HepG2	liver:	n/a	n/a
15	SIN3AK20	chr14:45366436-45367239	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr14:45366689-45367240	GM12878	blood:	n/a	n/a
17	TBL1XR1	chr14:45366383-45367029	GM12878	blood:	n/a	n/a
18	NFATC1	chr14:45366848-45367308	GM12878	blood:	n/a	n/a
19	MAX	chr14:45366927-45367310	H1-hESC	embryonic stem cell:	n/a	chr14:45367078-45367087 chr14:45367078-45367088
20	POLR2A	chr14:45366281-45367412	GM12892	blood:	n/a	n/a
21	ELF1	chr14:45366842-45367067	HepG2	liver:	n/a	chr14:45366889-45366901
22	CTCF	chr14:45366900-45367050	HCPEpiC	choroid plexus:	n/a	n/a
23	CCNT2	chr14:45366316-45367150	K562	blood:	n/a	chr14:45366458-45366467 chr14:45366465-45366474
24	POLR2A	chr14:45366329-45367159	Raji	blood:	n/a	n/a
25	MAX	chr14:45366207-45367369	Hela-S3	cervix:	n/a	chr14:45367078-45367087 chr14:45367078-45367088 chr14:45366892-45366902
26	JUND	chr14:45366410-45367165	H1-hESC	embryonic stem cell:	n/a	chr14:45366936-45366945
27	POLR2A	chr14:45365431-45368515	HepG2	liver:	n/a	n/a
28	MAZ	chr14:45365893-45367994	IMR90	lung:	n/a	chr14:45367078-45367087 chr14:45367078-45367088 chr14:45366892-45366902
29	POLR2A	chr14:45366091-45367273	GM19099	blood:	n/a	n/a
30	POLR2A	chr14:45366270-45367204	A549	lung:	n/a	n/a
31	SIN3AK20	chr14:45366747-45367138	HepG2	liver:	n/a	n/a
32	ZMIZ1	chr14:45366456-45367140	K562	blood:	n/a	n/a
33	HDAC2	chr14:45366754-45367204	HepG2	liver:	n/a	chr14:45366846-45366865
34	E2F6	chr14:45366808-45367293	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr14:45366100-45367243	Hela-S3	cervix:	n/a	chr14:45366464-45366474
36	POLR2A	chr14:45366310-45367209	K562	blood:	n/a	n/a
37	MAX	chr14:45366248-45367204	K562	blood:	n/a	chr14:45367078-45367087 chr14:45367078-45367088 chr14:45366892-45366902
38	POLR2A	chr14:45366708-45367314	HUVEC	blood vessel:	n/a	n/a
39	ZBTB7A	chr14:45366287-45367340	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr14:45366725-45367128	GM12891	blood:	n/a	n/a
41	MAFK	chr14:45366841-45366976	HepG2	liver:	n/a	n/a
42	POLR2A	chr14:45366309-45367203	GM12878	blood:	n/a	n/a
43	E2F6	chr14:45366486-45367386	H1-hESC	embryonic stem cell:	n/a	chr14:45366720-45366730 chr14:45366589-45366599
44	POLR2A	chr14:45366097-45367302	GM12892	blood:	n/a	n/a
45	POLR2A	chr14:45366154-45367262	HUVEC	blood vessel:	n/a	n/a
46	TAF1	chr14:45366272-45367284	MCF-7	breast:	n/a	n/a
47	TAF1	chr14:45366747-45367261	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr14:45366130-45367287	MCF-7	breast:	n/a	n/a
49	MYC	chr14:45366894-45367171	HepG2	liver:	n/a	chr14:45367078-45367087 chr14:45367078-45367088
50	POLR2A	chr14:45366678-45367262	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:45365477..45369212-chr14:45721451..45724440,3	MCF-7	breast:
2	chr14:45366694..45367611-chr5:43483862..43484558,2	Hela-S3	cervix:
3	chr14:45355758..45358329-chr14:45365529..45367662,3	MCF-7	breast:
4	chr14:45365342..45368511-chr14:45602012..45605909,4	MCF-7	breast:
5	chr14:45366302..45367008-chr19:9420378..9420949,2	NB4	blood:
6	chr14:45364937..45368444-chr14:45721075..45725396,9	MCF-7	breast:
7	chr14:45366809..45367421-chr20:30192897..30193652,2	Hela-S3	cervix:
8	chr14:45366600..45367529-chr2:74006787..74007320,2	NB4	blood:
9	chr1:117452390..117454247-chr14:45365454..45368358,2	MCF-7	breast:
10	chr1:147806722..147807249-chr14:45366144..45366987,2	Hela-S3	cervix:
11	chr14:45366139..45368285-chr17:56735222..56738242,3	MCF-7	breast:
12	chr14:45366802..45368333-chr14:45390243..45392661,2	MCF-7	breast:
13	chr11:65485409..65487052-chr14:45365480..45368085,2	MCF-7	breast:
14	chr14:45366398..45367110-chr15:85197040..85197821,2	Hela-S3	cervix:
15	chr14:45366346..45369460-chr14:45369465..45372322,3	K562	blood:
16	chr14:45366357..45367186-chr17:76921338..76921990,2	HCT-116	colon:

Variant related genes	Relation type
C14orf28	TF binding region
ENSG00000258633	TF binding region
ENSG00000196110	Chromatin interaction
ENSG00000035862	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000134247	Chromatin interaction
ENSG00000179476	Chromatin interaction
ENSG00000144048	Chromatin interaction
ENSG00000100442	Chromatin interaction
ENSG00000125968	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000177082	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000259046	Chromatin interaction
ENSG00000202408	Chromatin interaction
ENSG00000129534	Chromatin interaction
ENSG00000258509	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000172977	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11846410	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11851292	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55875939	0.91[AFR][1000 genomes]
rs7141891	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74046527	1.00[AMR][1000 genomes]
rs74046529	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	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	esv3355498	chr14:45365427-45368175	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45365000-45368800	Active TSS	Stomach Smooth Muscle	stomach
2	chr14:45365400-45368000	Active TSS	Rectal Smooth Muscle	rectum
3	chr14:45365600-45367000	Active TSS	Primary T cells from cord blood	blood
4	chr14:45365600-45367000	Active TSS	Liver	Liver
5	chr14:45365600-45367000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr14:45365600-45367000	Active TSS	Monocytes-CD14+_RO01746	blood
7	chr14:45365600-45367400	Active TSS	Brain Anterior Caudate	brain
8	chr14:45365600-45367400	Active TSS	Duodenum Mucosa	Duodenum
9	chr14:45365600-45367400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr14:45365600-45367600	Active TSS	Colonic Mucosa	Colon
11	chr14:45365600-45367600	Active TSS	Stomach Mucosa	stomach
12	chr14:45365600-45367600	Active TSS	K562	blood
13	chr14:45365600-45368000	Active TSS	Brain Angular Gyrus	brain
14	chr14:45365600-45368200	Active TSS	Aorta	Aorta
15	chr14:45365800-45367000	Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr14:45365800-45367000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:45365800-45367000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:45365800-45367200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:45365800-45367200	Active TSS	Brain Hippocampus Middle	brain
20	chr14:45365800-45367400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr14:45365800-45367400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr14:45365800-45367400	Active TSS	Muscle Satellite Cultured Cells	--
23	chr14:45365800-45367400	Active TSS	Pancreas	Pancrea
24	chr14:45365800-45367600	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr14:45365800-45367600	Active TSS	HepG2	liver
26	chr14:45365800-45367600	Active TSS	HSMM	muscle
27	chr14:45365800-45367800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:45365800-45367800	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr14:45365800-45367800	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr14:45365800-45368000	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr14:45365800-45368000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr14:45365800-45368000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:45365800-45368000	Active TSS	Brain Cingulate Gyrus	brain
34	chr14:45365800-45368000	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr14:45365800-45368000	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr14:45365800-45368200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:45366000-45367000	Active TSS	Primary T cells fromperipheralblood	blood
38	chr14:45366000-45367000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:45366000-45367000	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr14:45366000-45367000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:45366000-45367000	Active TSS	Fetal Thymus	thymus
42	chr14:45366000-45367200	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr14:45366000-45367200	Active TSS	Placenta Amnion	Placenta Amnion
44	chr14:45366000-45367200	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr14:45366000-45367200	Active TSS	HUVEC	blood vessel
46	chr14:45366000-45367200	Active TSS	Osteobl	bone
47	chr14:45366000-45367400	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr14:45366000-45367400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:45366000-45367400	Active TSS	Brain Substantia Nigra	brain
50	chr14:45366000-45367400	Active TSS	Thymus	Thymus

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