Variant report

Variant	esv1831699
Chromosome Location	chr14:70017627-70022694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70019966..70021611-chr14:70026583..70029344,2	K562	blood:
2	chr14:70017252..70019408-chr14:70020667..70022465,2	MCF-7	breast:
3	chr14:70013357..70015397-chr14:70020516..70022458,2	K562	blood:
4	chr14:70017252..70019408-chr14:70020667..70022465,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244237	chromatin interactions

Extended variants
information (count: 190 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549488723	chr14:70017650-70017651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112841470	chr14:70017696-70017697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534968885	chr14:70017717-70017718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535641650	chr14:70017727-70017728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376787273	chr14:70017728-70017729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184208742	chr14:70017770-70017771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528758389	chr14:70017783-70017784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565930392	chr14:70017828-70017829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188958181	chr14:70017833-70017834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs873176	chr14:70017837-70017838	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs192484716	chr14:70017841-70017842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140733313	chr14:70017847-70017848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111598059	chr14:70017874-70017875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144670776	chr14:70017895-70017896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375294228	chr14:70017927-70017928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572546167	chr14:70017935-70017936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117294523	chr14:70018016-70018017	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs75293854	chr14:70018028-70018029	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs375805560	chr14:70018141-70018142	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs184849354	chr14:70018152-70018153	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs75644188	chr14:70018173-70018174	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs189393686	chr14:70018195-70018196	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs74061849	chr14:70018230-70018231	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs549600833	chr14:70018424-70018425	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs539448090	chr14:70018457-70018458	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs561339893	chr14:70018498-70018499	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs112690916	chr14:70018504-70018505	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs10133792	chr14:70018518-70018519	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs146815085	chr14:70018528-70018529	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs528610855	chr14:70018577-70018578	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs547103376	chr14:70018580-70018581	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs114086657	chr14:70018591-70018592	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs532582279	chr14:70018642-70018643	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs576792096	chr14:70018664-70018665	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs371824303	chr14:70018710-70018711	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs75094448	chr14:70018726-70018727	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs368940427	chr14:70018818-70018819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147485183	chr14:70018824-70018825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140070702	chr14:70018845-70018846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112227911	chr14:70018850-70018851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142939231	chr14:70018880-70018881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115013558	chr14:70018958-70018959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544997826	chr14:70018990-70018991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180984819	chr14:70018994-70018995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186143876	chr14:70019011-70019012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189407855	chr14:70019170-70019171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561449366	chr14:70019218-70019219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17107076	chr14:70019281-70019282	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs540364689	chr14:70019322-70019323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201350035	chr14:70019323-70019324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70014800-70017800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:70015000-70018200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr14:70015000-70018200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:70015000-70018400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:70015000-70018800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:70015000-70026200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:70015200-70017800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:70015200-70026000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:70016600-70026000	Weak transcription	Fetal Brain Female	brain
10	chr14:70017400-70020600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:70017800-70018600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr14:70017800-70018600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:70017800-70018800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr14:70017800-70018800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:70017800-70019000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:70018000-70018400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:70018000-70018800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr14:70018200-70018600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr14:70018200-70019000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr14:70018400-70018600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:70018400-70019400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr14:70018800-70019000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr14:70018800-70020200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:70019000-70020000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:70019200-70021400	Enhancers	Hela-S3	cervix
26	chr14:70019400-70020400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr14:70019800-70020400	Enhancers	Placenta	Placenta
28	chr14:70020000-70020400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:70020000-70020400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:70020200-70020400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr14:70020400-70020600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr14:70020400-70025800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:70020600-70025800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:70021200-70021800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr14:70021400-70021800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr14:70021400-70021800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:70021600-70021800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:70022600-70022800	Enhancers	Brain Germinal Matrix	brain

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