Variant report

Variant	esv3384499
Chromosome Location	chr14:37809250-37843187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:37814771..37816556-chr14:38063329..38065680,2	MCF-7	breast:
2	chr14:37840146..37842839-chr14:37843811..37846339,2	K562	blood:
3	chr14:37811526..37813219-chr14:38057927..38059734,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139865	chromatin interactions
ENSG00000129514	chromatin interactions

Extended variants
information (count: 1311 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1311 , 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	rs9989228	chr14:37809253-37809254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527950847	chr14:37809271-37809272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375048618	chr14:37809298-37809299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112353937	chr14:37809406-37809407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538599094	chr14:37809419-37809420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529638824	chr14:37809467-37809468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554763010	chr14:37809477-37809478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71405788	chr14:37809516-37809517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149655520	chr14:37809537-37809538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188748286	chr14:37809571-37809572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140361472	chr14:37809594-37809595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558490710	chr14:37809640-37809641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538756741	chr14:37809667-37809668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145625891	chr14:37809687-37809688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565885816	chr14:37809740-37809741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12891735	chr14:37809785-37809786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535184647	chr14:37809841-37809842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555170990	chr14:37809843-37809844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193033585	chr14:37809855-37809856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373466896	chr14:37809898-37809899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576556340	chr14:37809911-37809912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34138949	chr14:37809913-37809914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556554100	chr14:37809956-37809957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537782985	chr14:37809971-37809972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559304186	chr14:37810003-37810004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145265230	chr14:37810015-37810016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34785545	chr14:37810060-37810061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545505832	chr14:37810189-37810190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565302216	chr14:37810247-37810248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147610749	chr14:37810266-37810267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142462579	chr14:37810293-37810294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577567213	chr14:37810341-37810342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561237947	chr14:37810361-37810362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150374112	chr14:37810375-37810376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75720640	chr14:37810415-37810416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371837573	chr14:37810458-37810459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574913611	chr14:37810505-37810506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541938533	chr14:37810567-37810568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532077677	chr14:37810568-37810569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147894006	chr14:37810648-37810649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113933305	chr14:37810667-37810668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189437625	chr14:37810678-37810679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7151222	chr14:37810699-37810700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs369104757	chr14:37810725-37810726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530626460	chr14:37810731-37810732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565688094	chr14:37810745-37810746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7150214	chr14:37810748-37810749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs541805684	chr14:37810819-37810820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180823487	chr14:37810868-37810869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7154977	chr14:37811128-37811129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:106 , 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	chr14:37806200-37812200	Weak transcription	HepG2	liver
9	chr14:37807000-37825400	Weak transcription	Pancreas	Pancrea
10	chr14:37812400-37813200	Active TSS	Liver	Liver
11	chr14:37812600-37812800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:37812600-37812800	Enhancers	Rectal Smooth Muscle	rectum
13	chr14:37812600-37813000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:37812600-37813000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr14:37812600-37813000	Active TSS	Stomach Smooth Muscle	stomach
16	chr14:37812800-37813000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:37813200-37813400	Enhancers	Liver	Liver
18	chr14:37814000-37814600	Enhancers	Gastric	stomach
19	chr14:37814200-37814600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr14:37817400-37825400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:37825000-37825400	Weak transcription	Gastric	stomach
22	chr14:37825400-37825600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:37825400-37825600	ZNF genes & repeats	Esophagus	oesophagus
24	chr14:37825400-37825600	ZNF genes & repeats	Gastric	stomach
25	chr14:37825400-37825600	ZNF genes & repeats	Pancreas	Pancrea
26	chr14:37825400-37825800	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr14:37825400-37826400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr14:37825400-37826600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:37825600-37832800	Weak transcription	Esophagus	oesophagus
30	chr14:37825600-37832800	Weak transcription	Pancreas	Pancrea
31	chr14:37825600-37833000	Weak transcription	Gastric	stomach
32	chr14:37825600-37833200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:37825600-37840200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr14:37826000-37826200	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr14:37826000-37826400	ZNF genes & repeats	Psoas Muscle	Psoas
36	chr14:37826200-37827000	Weak transcription	Ovary	ovary
37	chr14:37826200-37830800	Weak transcription	Fetal Intestine Small	intestine
38	chr14:37826400-37826600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:37826400-37826600	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:37826400-37827800	Weak transcription	Psoas Muscle	Psoas
41	chr14:37826400-37832600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr14:37826400-37832800	Weak transcription	Aorta	Aorta
43	chr14:37826600-37830800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr14:37826600-37832800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:37827200-37827600	Weak transcription	Ovary	ovary
46	chr14:37828200-37832600	Weak transcription	Ovary	ovary
47	chr14:37830200-37831200	Enhancers	HepG2	liver
48	chr14:37830200-37833600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:37830400-37832600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:37830800-37831000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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