Variant report

Variant	nsv85035
Chromosome Location	chr14:104691737-104691981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71421283	chr14:104691737-104691738	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs370582249	chr14:104691786-104691787	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs373698862	chr14:104691793-104691794	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs111323394	chr14:104691797-104691798	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs4990953	chr14:104691808-104691809	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs4439698	chr14:104691821-104691822	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs4381527	chr14:104691832-104691833	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs4442745	chr14:104691842-104691843	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs189423818	chr14:104691843-104691844	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs530417455	chr14:104691857-104691858	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs371443814	chr14:104691891-104691892	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs566842972	chr14:104691923-104691924	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs140752329	chr14:104691929-104691930	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs7494053	chr14:104691931-104691932	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7160242	chr14:104691968-104691969	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs532527006	chr14:104691972-104691973	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ependymoma	19289631	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104687000-104692200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr14:104688600-104692600	Enhancers	Spleen	Spleen
3	chr14:104689400-104691800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr14:104689400-104691800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:104689800-104692400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr14:104689800-104692600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr14:104690200-104692600	Weak transcription	Lung	lung
8	chr14:104690400-104691800	Enhancers	Fetal Intestine Large	intestine
9	chr14:104690400-104691800	Enhancers	Stomach Mucosa	stomach
10	chr14:104690400-104692800	Weak transcription	Left Ventricle	heart
11	chr14:104690400-104696000	Weak transcription	Fetal Heart	heart
12	chr14:104690600-104692200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr14:104691000-104691800	Enhancers	Fetal Intestine Small	intestine
14	chr14:104691000-104692200	Enhancers	Pancreas	Pancrea
15	chr14:104691000-104692800	ZNF genes & repeats	Placenta	Placenta
16	chr14:104691000-104698200	Weak transcription	Fetal Brain Male	brain
17	chr14:104691200-104692400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:104691200-104693200	Enhancers	Fetal Muscle Trunk	muscle
19	chr14:104691400-104691800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr14:104691400-104692200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:104691400-104692400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:104691400-104692400	Weak transcription	Gastric	stomach
23	chr14:104691400-104692800	Enhancers	Primary B cells from peripheral blood	blood
24	chr14:104691400-104692800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:104691400-104693000	Enhancers	Hela-S3	cervix
26	chr14:104691400-104693400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:104691400-104693600	Enhancers	Fetal Muscle Leg	muscle
28	chr14:104691600-104691800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr14:104691600-104692000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:104691600-104692400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:104691600-104692400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr14:104691600-104692600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:104691600-104692800	Weak transcription	Colonic Mucosa	Colon
34	chr14:104691600-104693400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr14:104691600-104697400	Weak transcription	Ovary	ovary
36	chr14:104691600-104698000	Weak transcription	Fetal Lung	lung
37	chr14:104691800-104692200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:104691800-104692200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr14:104691800-104692200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:104691800-104692200	Weak transcription	Fetal Intestine Large	intestine
41	chr14:104691800-104692200	Weak transcription	Fetal Intestine Small	intestine
42	chr14:104691800-104692200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:104691800-104692200	Weak transcription	Stomach Mucosa	stomach

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