Variant report

Variant	esv3530185
Chromosome Location	chr14:70016861-70022593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70017252..70019408-chr14:70020667..70022465,2	MCF-7	breast:
2	chr14:70019966..70021611-chr14:70026583..70029344,2	K562	blood:
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: 230 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573164923	chr14:70016890-70016891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373142369	chr14:70016997-70016998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376116024	chr14:70016998-70016999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369347474	chr14:70016999-70017000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372829755	chr14:70017000-70017001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371048418	chr14:70017004-70017005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377260553	chr14:70017034-70017035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561329365	chr14:70017066-70017067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140876630	chr14:70017138-70017139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552188841	chr14:70017143-70017144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144677780	chr14:70017163-70017164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192948867	chr14:70017164-70017165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551705403	chr14:70017171-70017172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570101683	chr14:70017175-70017176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138639547	chr14:70017179-70017180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570409503	chr14:70017186-70017187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369480929	chr14:70017196-70017197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549527262	chr14:70017219-70017220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4506829	chr14:70017221-70017222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141286321	chr14:70017225-70017226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546062122	chr14:70017292-70017293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397852363	chr14:70017296-70017297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76028555	chr14:70017297-70017298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371764468	chr14:70017298-70017299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76531984	chr14:70017300-70017301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535058035	chr14:70017367-70017368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537784003	chr14:70017369-70017370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79942795	chr14:70017381-70017382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115421731	chr14:70017445-70017446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116037679	chr14:70017447-70017448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576217528	chr14:70017453-70017454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375659096	chr14:70017455-70017456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114351459	chr14:70017462-70017463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150797231	chr14:70017469-70017470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564001260	chr14:70017470-70017471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540630659	chr14:70017496-70017497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533078186	chr14:70017501-70017502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559969764	chr14:70017517-70017518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138102222	chr14:70017575-70017576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567886505	chr14:70017586-70017587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552086546	chr14:70017610-70017611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115542666	chr14:70017612-70017613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149558266	chr14:70017613-70017614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549488723	chr14:70017650-70017651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112841470	chr14:70017696-70017697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534968885	chr14:70017717-70017718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535641650	chr14:70017727-70017728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376787273	chr14:70017728-70017729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184208742	chr14:70017770-70017771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528758389	chr14:70017783-70017784	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	chr14:70016800-70017000	Enhancers	Fetal Brain Male	brain
11	chr14:70017400-70020600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:70017800-70018600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr14:70017800-70018600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:70017800-70018800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:70017800-70018800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr14:70017800-70019000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:70018000-70018400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:70018000-70018800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr14:70018200-70018600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr14:70018200-70019000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr14:70018400-70018600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:70018400-70019400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr14:70018800-70019000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr14:70018800-70020200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:70019000-70020000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:70019200-70021400	Enhancers	Hela-S3	cervix
27	chr14:70019400-70020400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:70019800-70020400	Enhancers	Placenta	Placenta
29	chr14:70020000-70020400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:70020000-70020400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:70020200-70020400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr14:70020400-70020600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr14:70020400-70025800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:70020600-70025800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:70021200-70021800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr14:70021400-70021800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr14:70021400-70021800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:70021600-70021800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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