Variant report

Variant	esv3408766
Chromosome Location	chr14:31153051-31160649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:31159918-31159948	HepG2	liver:	n/a	n/a
2	CEBPB	chr14:31159786-31159950	HepG2	liver:	n/a	n/a
3	CEBPB	chr14:31159905-31159947	A549	lung:	n/a	n/a
4	CEBPB	chr14:31153592-31153662	HepG2	liver:	n/a	n/a
5	CHD1	chr14:31159976-31160376	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr14:31159869-31160026	LNCaP	prostate:	n/a	n/a
7	CTCF	chr14:31159940-31160090	HEK293	kidney:	n/a	n/a
8	CTCF	chr14:31159940-31160090	HepG2	liver:	n/a	n/a
9	CTCF	chr14:31159705-31160033	K562	blood:	n/a	n/a
10	CTCF	chr14:31159869-31159949	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr14:31159819-31160018	Pancreas_OC	pancreas:	n/a	n/a
12	CTCF	chr14:31159888-31159951	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr14:31159940-31160090	HRPEpiC	eye:	n/a	n/a
14	CTCF	chr14:31159940-31160090	HEEpiC	esophagus:	n/a	n/a
15	CTCF	chr14:31159889-31159979	MCF-7	breast:	n/a	n/a
16	CTCF	chr14:31159889-31159973	GM10266	blood:	n/a	n/a
17	CTCF	chr14:31159780-31159930	HEK293	kidney:	n/a	n/a
18	CTCF	chr14:31159940-31160090	NHEK	skin:	n/a	n/a
19	CTCF	chr14:31159788-31159992	K562	blood:	n/a	n/a
20	CTCF	chr14:31159940-31160090	SAEC	small airway:	n/a	n/a
21	CTCF	chr14:31159789-31160045	A549	lung:	n/a	n/a
22	CTCF	chr14:31159814-31159990	GM12892	blood:	n/a	n/a
23	CTCF	chr14:31159780-31159930	SAEC	small airway:	n/a	n/a
24	CTCF	chr14:31159660-31159810	GM12866	blood:	n/a	n/a
25	CTCF	chr14:31159900-31160050	GM12868	blood:	n/a	n/a
26	CTCF	chr14:31159920-31160070	HEEpiC	esophagus:	n/a	n/a
27	CTCF	chr14:31159940-31160090	GM12866	blood:	n/a	n/a
28	CTCF	chr14:31159920-31160070	Caco-2	colon:	n/a	n/a
29	CTCF	chr14:31159940-31160090	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr14:31159888-31159993	MCF-7	breast:	n/a	n/a
31	CTCF	chr14:31159940-31160090	GM12875	blood:	n/a	n/a
32	CTCF	chr14:31159780-31159930	HepG2	liver:	n/a	n/a
33	CTCF	chr14:31159880-31160030	Caco-2	colon:	n/a	n/a
34	CTCF	chr14:31159920-31160070	HMEC	breast:	n/a	n/a
35	CTCF	chr14:31159850-31159942	GM10248	blood:	n/a	n/a
36	CTCF	chr14:31159780-31159930	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr14:31159940-31160090	GM12871	blood:	n/a	n/a
38	CTCF	chr14:31159780-31159930	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr14:31159898-31159998	MCF-7	breast:	n/a	n/a
40	E2F4	chr14:31160165-31160365	MCF10A-Er-Src	breast:	n/a	n/a
41	FOXA2	chr14:31159429-31159846	A549	lung:	n/a	n/a
42	FOXA2	chr14:31159218-31160004	A549	lung:	n/a	n/a
43	HEY1	chr14:31159651-31160196	HepG2	liver:	n/a	n/a
44	HEY1	chr14:31159918-31160165	HepG2	liver:	n/a	n/a
45	HEY1	chr14:31159686-31159913	HepG2	liver:	n/a	n/a
46	MAX	chr14:31159919-31159950	HepG2	liver:	n/a	n/a
47	MYBL2	chr14:31159639-31160429	HepG2	liver:	n/a	n/a
48	MYC	chr14:31159772-31159952	MCF10A-Er-Src	breast:	n/a	n/a
49	NFIC	chr14:31159913-31160319	HepG2	liver:	n/a	n/a
50	POLR2A	chr14:31152319-31153519	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31158569..31160575-chr14:31165651..31167745,2	MCF-7	breast:

No data

Variant related genes	Relation type
UBE2CP1	TF binding region

Extended variants
information (count: 142 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573851245	chr14:31153053-31153054	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs538039181	chr14:31153064-31153065	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs548484613	chr14:31153087-31153088	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs7141161	chr14:31153130-31153131	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs577857116	chr14:31153170-31153171	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs7141333	chr14:31153190-31153191	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7140889	chr14:31153199-31153200	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs570135908	chr14:31153226-31153227	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs61976718	chr14:31153240-31153241	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371432917	chr14:31153248-31153249	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs540294140	chr14:31153283-31153284	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs143417948	chr14:31153284-31153285	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs534274369	chr14:31153288-31153289	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs10483365	chr14:31153323-31153324	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs17363602	chr14:31153324-31153325	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs562989269	chr14:31153332-31153333	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs192814977	chr14:31153337-31153338	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs35209482	chr14:31153339-31153340	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs551824085	chr14:31153359-31153360	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs148614755	chr14:31153366-31153367	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs533790433	chr14:31153380-31153381	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs549050257	chr14:31153387-31153388	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs376193176	chr14:31153404-31153405	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs567375623	chr14:31153419-31153420	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs79655891	chr14:31153429-31153430	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs73253023	chr14:31153482-31153483	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs185781091	chr14:31153490-31153491	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs538908166	chr14:31153522-31153523	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs34631940	chr14:31153590-31153591	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs553795931	chr14:31153617-31153618	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs548410743	chr14:31153622-31153623	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs10141827	chr14:31153668-31153669	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs142089999	chr14:31153680-31153681	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34013044	chr14:31153682-31153683	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555382835	chr14:31153709-31153710	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573793743	chr14:31153733-31153734	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112369869	chr14:31153753-31153754	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563085958	chr14:31153765-31153766	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs190258561	chr14:31153792-31153793	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs545657136	chr14:31153868-31153869	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs556857742	chr14:31153886-31153887	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs560768303	chr14:31153891-31153892	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs373216066	chr14:31153934-31153935	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs536142375	chr14:31154005-31154006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200833238	chr14:31154009-31154010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71443379	chr14:31154010-31154011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71112333	chr14:31154028-31154029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575642944	chr14:31154115-31154116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111565807	chr14:31154173-31154174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112061744	chr14:31154176-31154177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31093800-31159600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:31096000-31167400	Weak transcription	Gastric	stomach
3	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
4	chr14:31115000-31167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:31115200-31159600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:31119000-31153200	Weak transcription	Right Ventricle	heart
7	chr14:31121600-31159600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:31122400-31159600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
10	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:31123600-31159800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr14:31123600-31165400	Weak transcription	Colonic Mucosa	Colon
14	chr14:31124400-31160200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:31124400-31171400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:31125000-31159600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:31125200-31170000	Weak transcription	Colon Smooth Muscle	Colon
18	chr14:31125400-31160000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr14:31128200-31164600	Weak transcription	Brain Anterior Caudate	brain
20	chr14:31128200-31165600	Weak transcription	HSMMtube	muscle
21	chr14:31132400-31160400	Weak transcription	Hela-S3	cervix
22	chr14:31133200-31160600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:31133800-31154000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:31133800-31159600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:31133800-31159600	Weak transcription	Esophagus	oesophagus
26	chr14:31133800-31197400	Weak transcription	Aorta	Aorta
27	chr14:31134200-31167000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:31138400-31153600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:31138800-31153400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:31139000-31153600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:31139000-31153800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:31139400-31153800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr14:31139400-31153800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr14:31139600-31153800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:31139800-31153600	Strong transcription	Liver	Liver
36	chr14:31141200-31153200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:31141600-31167400	Weak transcription	Psoas Muscle	Psoas
38	chr14:31142200-31160200	Weak transcription	Fetal Heart	heart
39	chr14:31142200-31164800	Weak transcription	Fetal Intestine Small	intestine
40	chr14:31143400-31159800	Weak transcription	HUVEC	blood vessel
41	chr14:31144800-31153200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:31145200-31160200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:31146200-31159600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr14:31146600-31165600	Weak transcription	Brain Germinal Matrix	brain
45	chr14:31146600-31165600	Weak transcription	Fetal Thymus	thymus
46	chr14:31147400-31153200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:31147400-31153800	Strong transcription	HSMM	muscle
48	chr14:31147800-31160200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr14:31148400-31153400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:31148600-31159600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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