Variant report

Variant	esv3438176
Chromosome Location	chr14:104752907-104757905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104756422..104758689-chr14:104761247..104763793,2	MCF-7	breast:
2	chr14:104746362..104748538-chr14:104754609..104757132,3	MCF-7	breast:
3	chr14:104750633..104755093-chr14:104756730..104760416,4	MCF-7	breast:
4	chr14:104756389..104758056-chr14:104758774..104761093,2	MCF-7	breast:
5	chr14:104750633..104755093-chr14:104756730..104760416,4	MCF-7	breast:
6	chr14:104747853..104750552-chr14:104755271..104758240,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf144-1	chr14:104753823-104753890	NONHSAT040253
2	lnc-RP11-614O9.3.1-3	chr14:104755902-104756432	NONHSAT040255
3	lnc-RP11-614O9.3.1-3	chr14:104755476-104756432	NONHSAT040254
4	lnc-C14orf144-1	chr14:104756355-104756432	NONHSAT040253
5	lnc-RP11-614O9.3.1-3	chr14:104753936-104755057	NONHSAT040254
6	lnc-C14orf144-1	chr14:104753823-104753890	ENSG00000258913
7	lnc-C14orf144-1	chr14:104754171-104754406	ENSG00000258913

No data

Extended variants
information (count: 307 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76346085	chr14:104752937-104752938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532150733	chr14:104753004-104753005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs59351361	chr14:104753069-104753070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181704774	chr14:104753070-104753071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143441893	chr14:104753073-104753074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531354460	chr14:104753077-104753078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547875169	chr14:104753089-104753090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560089880	chr14:104753123-104753124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186149520	chr14:104753124-104753125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146881790	chr14:104753137-104753138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536401560	chr14:104753145-104753146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386781017	chr14:104753146-104753147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200607426	chr14:104753148-104753149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28545079	chr14:104753154-104753155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559017259	chr14:104753162-104753163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575706164	chr14:104753164-104753165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140701183	chr14:104753193-104753194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111932909	chr14:104753211-104753212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28669700	chr14:104753219-104753220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540020576	chr14:104753228-104753229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565942592	chr14:104753233-104753234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145810575	chr14:104753252-104753253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577092450	chr14:104753265-104753266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28619327	chr14:104753286-104753287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562188637	chr14:104753319-104753320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35667106	chr14:104753324-104753325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs190526008	chr14:104753328-104753329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138440621	chr14:104753343-104753344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28585551	chr14:104753363-104753364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs34745104	chr14:104753386-104753387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs141932542	chr14:104753397-104753398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371810624	chr14:104753411-104753412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532737937	chr14:104753412-104753413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552895157	chr14:104753467-104753468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28517288	chr14:104753476-104753477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs28714517	chr14:104753503-104753504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs555122230	chr14:104753517-104753518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28497233	chr14:104753518-104753519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534279301	chr14:104753617-104753618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10143521	chr14:104753618-104753619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs76480350	chr14:104753675-104753676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545703135	chr14:104753703-104753704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183378339	chr14:104753709-104753710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575656399	chr14:104753723-104753724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10143546	chr14:104753783-104753784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs10143728	chr14:104753799-104753800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs60588315	chr14:104753829-104753830	Weak transcription Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs10132768	chr14:104753863-104753864	Weak transcription Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs200968075	chr14:104753864-104753865	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
50	rs560562686	chr14:104753870-104753871	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104736800-104754800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:104746400-104755200	Weak transcription	Hela-S3	cervix
3	chr14:104746600-104754800	Weak transcription	Pancreas	Pancrea
4	chr14:104751400-104756000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:104751800-104755800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr14:104752000-104757400	Weak transcription	Spleen	Spleen
7	chr14:104752600-104753000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:104753800-104754000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr14:104754800-104755800	ZNF genes & repeats	Pancreas	Pancrea
10	chr14:104754800-104756000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:104754800-104756000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:104755200-104756000	Enhancers	Hela-S3	cervix
13	chr14:104755800-104756200	Bivalent Enhancer	Fetal Brain Male	brain
14	chr14:104755800-104757400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr14:104755800-104758800	Enhancers	Pancreas	Pancrea
16	chr14:104756000-104757000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:104756000-104757000	Flanking Active TSS	Hela-S3	cervix
18	chr14:104756000-104757200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:104756000-104757400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:104756200-104759000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr14:104756400-104756600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr14:104756400-104756600	Enhancers	A549	lung
23	chr14:104756400-104760800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:104756600-104757600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr14:104756600-104757600	Enhancers	Brain Germinal Matrix	brain
26	chr14:104756600-104760000	Weak transcription	A549	lung
27	chr14:104756800-104758000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr14:104756800-104759000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr14:104756800-104759000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr14:104757000-104757600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr14:104757000-104757800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:104757000-104757800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:104757000-104758000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr14:104757000-104758400	Enhancers	Liver	Liver
35	chr14:104757000-104758800	Enhancers	Hela-S3	cervix
36	chr14:104757000-104759000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:104757000-104760600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr14:104757200-104757400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr14:104757200-104757600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:104757200-104757800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:104757200-104759000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr14:104757400-104757800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr14:104757400-104758000	ZNF genes & repeats	Spleen	Spleen
44	chr14:104757400-104758400	Enhancers	Fetal Brain Male	brain
45	chr14:104757400-104758400	Enhancers	Fetal Brain Female	brain
46	chr14:104757400-104758400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr14:104757400-104758600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr14:104757400-104759000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:104757400-104759400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:104757600-104757800	Flanking Active TSS	Brain Germinal Matrix	brain

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