Variant report

Variant	esv3396592
Chromosome Location	chr14:37806250-37839751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:37811526..37813219-chr14:38057927..38059734,2	MCF-7	breast:
2	chr14:37814771..37816556-chr14:38063329..38065680,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129514	chromatin interactions
ENSG00000139865	chromatin interactions

Extended variants
information (count: 1308 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1308 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7157125	chr14:37806297-37806298	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190236087	chr14:37806325-37806326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539578503	chr14:37806329-37806330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548033164	chr14:37806337-37806338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368130450	chr14:37806377-37806378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553504987	chr14:37806383-37806384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569959020	chr14:37806450-37806451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4337211	chr14:37806528-37806529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200288202	chr14:37806555-37806556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200236569	chr14:37806557-37806558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557313134	chr14:37806559-37806560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4363774	chr14:37806561-37806562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544402675	chr14:37806562-37806563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12895636	chr14:37806563-37806564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536116930	chr14:37806565-37806566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71404885	chr14:37806570-37806571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71127210	chr14:37806589-37806590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs33972471	chr14:37806590-37806591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375434347	chr14:37806591-37806592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376704224	chr14:37806621-37806622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182417707	chr14:37806628-37806629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184200774	chr14:37806659-37806660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377692992	chr14:37806692-37806693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35006035	chr14:37806699-37806700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs4638473	chr14:37806718-37806719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78304351	chr14:37806792-37806793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557504968	chr14:37806807-37806808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188215854	chr14:37806853-37806854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560257144	chr14:37806962-37806963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529060764	chr14:37806970-37806971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542465478	chr14:37807091-37807092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562439646	chr14:37807093-37807094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531539229	chr14:37807094-37807095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139012626	chr14:37807109-37807110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180971849	chr14:37807119-37807120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533433182	chr14:37807125-37807126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546787969	chr14:37807142-37807143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567024078	chr14:37807168-37807169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185383363	chr14:37807170-37807171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549641851	chr14:37807182-37807183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373558983	chr14:37807238-37807239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117213612	chr14:37807263-37807264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190287730	chr14:37807283-37807284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4898582	chr14:37807303-37807304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61425558	chr14:37807313-37807314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397978174	chr14:37807329-37807330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370052069	chr14:37807350-37807351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536484385	chr14:37807351-37807352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546509641	chr14:37807373-37807374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553452171	chr14:37807405-37807406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37759000-37810600	Weak transcription	Psoas Muscle	Psoas
2	chr14:37762600-37812400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:37775200-37817000	Weak transcription	Aorta	Aorta
4	chr14:37796200-37821400	Weak transcription	Ovary	ovary
5	chr14:37798600-37811200	Weak transcription	HUVEC	blood vessel
6	chr14:37800400-37812200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:37800600-37812600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:37805800-37806400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:37806200-37812200	Weak transcription	HepG2	liver
10	chr14:37807000-37825400	Weak transcription	Pancreas	Pancrea
11	chr14:37812400-37813200	Active TSS	Liver	Liver
12	chr14:37812600-37812800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:37812600-37812800	Enhancers	Rectal Smooth Muscle	rectum
14	chr14:37812600-37813000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:37812600-37813000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr14:37812600-37813000	Active TSS	Stomach Smooth Muscle	stomach
17	chr14:37812800-37813000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:37813200-37813400	Enhancers	Liver	Liver
19	chr14:37814000-37814600	Enhancers	Gastric	stomach
20	chr14:37814200-37814600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr14:37817400-37825400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:37825000-37825400	Weak transcription	Gastric	stomach
23	chr14:37825400-37825600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:37825400-37825600	ZNF genes & repeats	Esophagus	oesophagus
25	chr14:37825400-37825600	ZNF genes & repeats	Gastric	stomach
26	chr14:37825400-37825600	ZNF genes & repeats	Pancreas	Pancrea
27	chr14:37825400-37825800	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr14:37825400-37826400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr14:37825400-37826600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:37825600-37832800	Weak transcription	Esophagus	oesophagus
31	chr14:37825600-37832800	Weak transcription	Pancreas	Pancrea
32	chr14:37825600-37833000	Weak transcription	Gastric	stomach
33	chr14:37825600-37833200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:37825600-37840200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:37826000-37826200	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr14:37826000-37826400	ZNF genes & repeats	Psoas Muscle	Psoas
37	chr14:37826200-37827000	Weak transcription	Ovary	ovary
38	chr14:37826200-37830800	Weak transcription	Fetal Intestine Small	intestine
39	chr14:37826400-37826600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:37826400-37826600	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:37826400-37827800	Weak transcription	Psoas Muscle	Psoas
42	chr14:37826400-37832600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:37826400-37832800	Weak transcription	Aorta	Aorta
44	chr14:37826600-37830800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr14:37826600-37832800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:37827200-37827600	Weak transcription	Ovary	ovary
47	chr14:37828200-37832600	Weak transcription	Ovary	ovary
48	chr14:37830200-37831200	Enhancers	HepG2	liver
49	chr14:37830200-37833600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:37830400-37832600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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