Variant report

Variant	esv3531014
Chromosome Location	chr14:70019399-70024497
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	chr14:70013357..70015397-chr14:70020516..70022458,2	K562	blood:
3	chr14:70017252..70019408-chr14:70020667..70022465,2	MCF-7	breast:
4	chr14:70019966..70021611-chr14:70026583..70029344,2	K562	blood:

Variant related genes	Relation type
ENSG00000244237	chromatin interactions

Extended variants
information (count: 214 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:214 , 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	rs78867687	chr14:70019464-70019465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550976937	chr14:70019483-70019484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151112846	chr14:70019521-70019522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541621585	chr14:70019532-70019533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57769796	chr14:70019545-70019546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs372546176	chr14:70019546-70019547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372310974	chr14:70019551-70019552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567120698	chr14:70019589-70019590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527427223	chr14:70019590-70019591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551871802	chr14:70019591-70019592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534859564	chr14:70019611-70019612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552751925	chr14:70019625-70019626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571322411	chr14:70019651-70019652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149857980	chr14:70019656-70019657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112258754	chr14:70019657-70019658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575344089	chr14:70019691-70019692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543320545	chr14:70019735-70019736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371080682	chr14:70019746-70019747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577656939	chr14:70019751-70019752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573462771	chr14:70019776-70019777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550897531	chr14:70019817-70019818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563705300	chr14:70019830-70019831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs59847146	chr14:70019836-70019837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373776537	chr14:70019837-70019838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549661786	chr14:70019842-70019843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370624725	chr14:70019856-70019857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113796711	chr14:70019860-70019861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112622033	chr14:70019861-70019862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531229436	chr14:70019932-70019933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565208964	chr14:70020059-70020060	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs76590145	chr14:70020070-70020071	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs544416083	chr14:70020096-70020097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562522087	chr14:70020110-70020111	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs79000358	chr14:70020111-70020112	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs548855993	chr14:70020120-70020121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs560859526	chr14:70020183-70020184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140810936	chr14:70020184-70020185	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs4902732	chr14:70020190-70020191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs114409351	chr14:70020198-70020199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538710526	chr14:70020205-70020206	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550721517	chr14:70020240-70020241	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs568865954	chr14:70020296-70020297	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs17107078	chr14:70020319-70020320	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181284360	chr14:70020331-70020332	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568025671	chr14:70020361-70020362	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs79691725	chr14:70020466-70020467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534100651	chr14:70020504-70020505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529071266	chr14:70020531-70020532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550689624	chr14:70020545-70020546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577395642	chr14:70020556-70020557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70015000-70026200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:70015200-70026000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:70016600-70026000	Weak transcription	Fetal Brain Female	brain
4	chr14:70017400-70020600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:70018400-70019400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr14:70018800-70020200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:70019000-70020000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:70019200-70021400	Enhancers	Hela-S3	cervix
9	chr14:70019400-70020400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:70019800-70020400	Enhancers	Placenta	Placenta
11	chr14:70020000-70020400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:70020000-70020400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:70020200-70020400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr14:70020400-70020600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr14:70020400-70025800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:70020600-70025800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:70021200-70021800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr14:70021400-70021800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr14:70021400-70021800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:70021600-70021800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:70022600-70022800	Enhancers	Brain Germinal Matrix	brain
22	chr14:70022800-70026200	Weak transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links