Variant report

Variant	nsv564172
Chromosome Location	chr14:31151449-31153323
allele	n/a
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	CTCF	chr14:31151500-31151650	HVMF	connective:	n/a	n/a
2	CTCF	chr14:31151420-31151570	HPAF	blood vessel:	n/a	n/a
3	CTCF	chr14:31151460-31151610	AG10803	skin:	n/a	n/a
4	CTCF	chr14:31152560-31152710	HepG2	liver:	n/a	n/a
5	E2F4	chr14:31151715-31152042	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr14:31152642-31152686	HepG2	liver:	n/a	n/a
7	MYC	chr14:31152398-31152480	MCF-7	breast:	n/a	n/a
8	POLR2A	chr14:31152469-31152515	MCF-7	breast:	n/a	n/a
9	POLR2A	chr14:31152704-31152928	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:31152814-31152843	GM12878	blood:	n/a	n/a
11	POLR2A	chr14:31152455-31152472	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr14:31152319-31153519	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:31152627-31152809	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:31152214-31152601	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:31152302-31152532	K562	blood:	n/a	n/a
16	POLR2A	chr14:31152647-31152818	MCF-7	breast:	n/a	n/a
17	POLR2A	chr14:31152315-31152524	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr14:31152684-31152762	GM12878	blood:	n/a	n/a
19	POLR2A	chr14:31152753-31152762	K562	blood:	n/a	n/a
20	POLR2A	chr14:31152390-31152538	GM12878	blood:	n/a	n/a
21	STAT3	chr14:31151267-31151611	MCF10A-Er-Src	breast:	n/a	n/a
22	TCF7L2	chr14:31151436-31152191	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
UBE2CP1	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11156637	chr14:31151449-31151450	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140519209	chr14:31151458-31151459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563626559	chr14:31151511-31151512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11846087	chr14:31151535-31151536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190176660	chr14:31151654-31151655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183123541	chr14:31151659-31151660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576565271	chr14:31151664-31151665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540742444	chr14:31151687-31151688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370327115	chr14:31151690-31151691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552765833	chr14:31151737-31151738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187500447	chr14:31151738-31151739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191186506	chr14:31151748-31151749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184090466	chr14:31151764-31151765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150431139	chr14:31151766-31151767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541622153	chr14:31151867-31151868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563643134	chr14:31151885-31151886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563519164	chr14:31151887-31151888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114918324	chr14:31151947-31151948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552359387	chr14:31151970-31151971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574938128	chr14:31152020-31152021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113009474	chr14:31152058-31152059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111310054	chr14:31152073-31152074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570925732	chr14:31152079-31152080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138245765	chr14:31152138-31152139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367677276	chr14:31152143-31152144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188587973	chr14:31152155-31152156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144012647	chr14:31152181-31152182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2070340	chr14:31152222-31152223	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs557264806	chr14:31152226-31152227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2889991	chr14:31152243-31152244	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565762569	chr14:31152296-31152297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539422477	chr14:31152353-31152354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557527609	chr14:31152426-31152427	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs374494880	chr14:31152430-31152431	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs192757929	chr14:31152465-31152466	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs534641749	chr14:31152487-31152488	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs533924389	chr14:31152505-31152506	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs34093148	chr14:31152511-31152512	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs376661086	chr14:31152530-31152531	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs147315976	chr14:31152577-31152578	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs544483022	chr14:31152582-31152583	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs34587498	chr14:31152610-31152611	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546342043	chr14:31152614-31152615	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562821772	chr14:31152617-31152618	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184164861	chr14:31152652-31152653	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116839017	chr14:31152673-31152674	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532511718	chr14:31152720-31152721	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564363745	chr14:31152727-31152728	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17097097	chr14:31152735-31152736	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs546717129	chr14:31152744-31152745	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	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:201 , 50 per page) page: 1 2 3 4 5

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	chr14:31128200-31152200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:31128200-31152400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr14:31128200-31164600	Weak transcription	Brain Anterior Caudate	brain
27	chr14:31128200-31165600	Weak transcription	HSMMtube	muscle
28	chr14:31132400-31160400	Weak transcription	Hela-S3	cervix
29	chr14:31133200-31160600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:31133600-31153000	Weak transcription	Fetal Brain Female	brain
31	chr14:31133800-31151800	Weak transcription	Ovary	ovary
32	chr14:31133800-31152200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:31133800-31152200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:31133800-31152200	Weak transcription	Lung	lung
35	chr14:31133800-31152400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:31133800-31154000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:31133800-31159600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:31133800-31159600	Weak transcription	Esophagus	oesophagus
39	chr14:31133800-31197400	Weak transcription	Aorta	Aorta
40	chr14:31134000-31152600	Weak transcription	Pancreas	Pancrea
41	chr14:31134200-31167000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:31138400-31153600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:31138800-31153400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:31139000-31153600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:31139000-31153800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:31139400-31153800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr14:31139400-31153800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr14:31139600-31153800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:31139800-31153600	Strong transcription	Liver	Liver
50	chr14:31141200-31153200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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