Variant report

Variant	esv3372805
Chromosome Location	chr14:31150454-31154300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:151)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:151 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:31153592-31153662	HepG2	liver:	n/a	n/a
2	CTCF	chr14:31150929-31151269	HCT-116	colon:	n/a	n/a
3	CTCF	chr14:31151040-31151190	GM12873	blood:	n/a	n/a
4	CTCF	chr14:31151040-31151190	BJ	skin:	n/a	n/a
5	CTCF	chr14:31151040-31151190	GM12865	blood:	n/a	n/a
6	CTCF	chr14:31151093-31151168	GM13977	blood:	n/a	n/a
7	CTCF	chr14:31151500-31151650	HVMF	connective:	n/a	n/a
8	CTCF	chr14:31151040-31151190	HCM	heart:	n/a	n/a
9	CTCF	chr14:31151080-31151230	K562	blood:	n/a	n/a
10	CTCF	chr14:31151060-31151210	HA-sp	spinal cord:	n/a	n/a
11	CTCF	chr14:31151100-31151250	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr14:31151020-31151170	SAEC	small airway:	n/a	n/a
13	CTCF	chr14:31151020-31151170	HepG2	liver:	n/a	n/a
14	CTCF	chr14:31151420-31151570	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr14:31151040-31151190	BE2_C	brain:	n/a	n/a
16	CTCF	chr14:31151080-31151230	AG10803	skin:	n/a	n/a
17	CTCF	chr14:31151006-31151240	HepG2	liver:	n/a	n/a
18	CTCF	chr14:31151080-31151230	WI-38	lung:	n/a	n/a
19	CTCF	chr14:31150960-31151110	NHLF	lung:	n/a	n/a
20	CTCF	chr14:31151060-31151210	HPF	lung:	n/a	n/a
21	CTCF	chr14:31151080-31151230	HMEC	breast:	n/a	n/a
22	CTCF	chr14:31151000-31151150	HFF-Myc	foreskin:	n/a	n/a
23	CTCF	chr14:31151140-31151290	NHDF-neo	bronchial:	n/a	n/a
24	CTCF	chr14:31151051-31151205	A549	lung:	n/a	n/a
25	CTCF	chr14:31151100-31151250	HEEpiC	esophagus:	n/a	n/a
26	CTCF	chr14:31151071-31151202	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr14:31150980-31151337	K562	blood:	n/a	n/a
28	CTCF	chr14:31151060-31151210	GM12872	blood:	n/a	n/a
29	CTCF	chr14:31151080-31151230	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr14:31151100-31151250	Caco-2	colon:	n/a	n/a
31	CTCF	chr14:31151040-31151190	GM12864	blood:	n/a	n/a
32	CTCF	chr14:31151031-31151272	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr14:31151060-31151210	AG04450	lung:	n/a	n/a
34	CTCF	chr14:31151080-31151230	NHEK	skin:	n/a	n/a
35	CTCF	chr14:31151020-31151170	HMEC	breast:	n/a	n/a
36	CTCF	chr14:31151134-31151201	Lung_OC	lung:	n/a	n/a
37	CTCF	chr14:31151100-31151250	HPF	lung:	n/a	n/a
38	CTCF	chr14:31151020-31151170	HA-sp	spinal cord:	n/a	n/a
39	CTCF	chr14:31151040-31151190	GM06990	blood:	n/a	n/a
40	CTCF	chr14:31151040-31151190	GM12871	blood:	n/a	n/a
41	CTCF	chr14:31150829-31151363	SK-N-SH	brain:	n/a	n/a
42	CTCF	chr14:31150911-31151386	MCF-7	breast:	n/a	n/a
43	CTCF	chr14:31150920-31151070	HAc	cerebellar:	n/a	n/a
44	CTCF	chr14:31151040-31151190	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr14:31151080-31151230	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr14:31151142-31151170	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr14:31151060-31151210	HCM	heart:	n/a	n/a
48	CTCF	chr14:31151060-31151210	HMF	breast:	n/a	n/a
49	CTCF	chr14:31151072-31151221	HepG2	liver:	n/a	n/a
50	CTCF	chr14:31150980-31151130	GM12864	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31125082..31125813-chr14:31150692..31151344,3	MCF-7	breast:

No data

Variant related genes	Relation type
UBE2CP1	TF binding region

Extended variants
information (count: 138 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553264397	chr14:31150556-31150557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375310421	chr14:31150557-31150558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574063633	chr14:31150568-31150569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182359370	chr14:31150665-31150666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73253017	chr14:31150695-31150696	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs146521616	chr14:31150727-31150728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553547837	chr14:31150787-31150788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141202889	chr14:31150819-31150820	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs187027424	chr14:31150820-31150821	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs191051801	chr14:31150857-31150858	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs180770508	chr14:31150865-31150866	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs116882621	chr14:31150942-31150943	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs530078652	chr14:31151006-31151007	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs145015930	chr14:31151031-31151032	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs570114398	chr14:31151057-31151058	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs370208551	chr14:31151064-31151065	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs552672849	chr14:31151103-31151104	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs78164538	chr14:31151125-31151126	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs116508285	chr14:31151224-31151225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377004792	chr14:31151252-31151253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186625122	chr14:31151298-31151299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148324150	chr14:31151312-31151313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553201003	chr14:31151319-31151320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115784152	chr14:31151323-31151324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546820046	chr14:31151351-31151352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535786779	chr14:31151398-31151399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11156637	chr14:31151449-31151450	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs140519209	chr14:31151458-31151459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563626559	chr14:31151511-31151512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11846087	chr14:31151535-31151536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190176660	chr14:31151654-31151655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183123541	chr14:31151659-31151660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576565271	chr14:31151664-31151665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540742444	chr14:31151687-31151688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370327115	chr14:31151690-31151691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552765833	chr14:31151737-31151738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187500447	chr14:31151738-31151739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191186506	chr14:31151748-31151749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184090466	chr14:31151764-31151765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150431139	chr14:31151766-31151767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541622153	chr14:31151867-31151868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563643134	chr14:31151885-31151886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563519164	chr14:31151887-31151888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114918324	chr14:31151947-31151948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552359387	chr14:31151970-31151971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574938128	chr14:31152020-31152021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113009474	chr14:31152058-31152059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111310054	chr14:31152073-31152074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570925732	chr14:31152079-31152080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138245765	chr14:31152138-31152139	Weak transcription Strong 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:283 , 50 per page) page: 1 2 3 4 5 6

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	chr14:31122600-31152200	Weak transcription	Spleen	Spleen
10	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
11	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:31123600-31159800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr14:31123600-31165400	Weak transcription	Colonic Mucosa	Colon
15	chr14:31124400-31152600	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:31124400-31160200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr14:31124400-31171400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:31125000-31159600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:31125200-31152400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr14:31125200-31170000	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:31125400-31152400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:31125400-31160000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr14:31126200-31151800	Weak transcription	NHLF	lung
24	chr14:31126400-31151200	Weak transcription	HMEC	breast
25	chr14:31128200-31152200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:31128200-31152400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr14:31128200-31164600	Weak transcription	Brain Anterior Caudate	brain
28	chr14:31128200-31165600	Weak transcription	HSMMtube	muscle
29	chr14:31131600-31151200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:31132400-31160400	Weak transcription	Hela-S3	cervix
31	chr14:31133200-31160600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:31133600-31153000	Weak transcription	Fetal Brain Female	brain
33	chr14:31133800-31151800	Weak transcription	Ovary	ovary
34	chr14:31133800-31152200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:31133800-31152200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:31133800-31152200	Weak transcription	Lung	lung
37	chr14:31133800-31152400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:31133800-31154000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:31133800-31159600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:31133800-31159600	Weak transcription	Esophagus	oesophagus
41	chr14:31133800-31197400	Weak transcription	Aorta	Aorta
42	chr14:31134000-31152600	Weak transcription	Pancreas	Pancrea
43	chr14:31134200-31167000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:31138400-31153600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:31138800-31153400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:31139000-31153600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:31139000-31153800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:31139400-31153800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr14:31139400-31153800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr14:31139600-31153800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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