Variant report

Variant	esv3374587
Chromosome Location	chr14:77686224-77689072
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	chr14:77687164..77689503-chr14:77690310..77692436,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NGB-3	chr14:77687547-77688021	NONHSAT037966
2	lnc-NGB-3	chr14:77686604-77687262	NONHSAT037966

Extended variants
information (count: 154 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527366612	chr14:77686239-77686240	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs2287376	chr14:77686240-77686241	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570547792	chr14:77686260-77686261	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs73309135	chr14:77686281-77686282	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2287377	chr14:77686303-77686304	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs375743916	chr14:77686330-77686331	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs200471121	chr14:77686331-77686332	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs116433928	chr14:77686358-77686359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs554923675	chr14:77686370-77686371	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs374790147	chr14:77686397-77686398	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs376740038	chr14:77686407-77686408	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs534211287	chr14:77686413-77686414	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs371335926	chr14:77686420-77686421	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs376061257	chr14:77686432-77686433	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs73309138	chr14:77686445-77686446	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs372833157	chr14:77686484-77686485	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs78115368	chr14:77686508-77686509	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs113202091	chr14:77686516-77686517	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs556844979	chr14:77686528-77686529	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs576788216	chr14:77686622-77686623	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs538591622	chr14:77686638-77686639	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs4903561	chr14:77686643-77686644	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs111751304	chr14:77686659-77686660	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs527266501	chr14:77686670-77686671	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs536110923	chr14:77686684-77686685	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs570500521	chr14:77686739-77686740	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs531413639	chr14:77686750-77686751	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs549401468	chr14:77686796-77686797	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs567735337	chr14:77686814-77686815	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs79934804	chr14:77686819-77686820	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs76235394	chr14:77686848-77686849	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs34120266	chr14:77686910-77686911	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs374093758	chr14:77686912-77686913	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs454362	chr14:77686990-77686991	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs180684697	chr14:77687015-77687016	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
36	rs529168576	chr14:77687033-77687034	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
37	rs114434164	chr14:77687047-77687048	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
38	rs2542824	chr14:77687050-77687051	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs186355837	chr14:77687069-77687070	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
40	rs116893109	chr14:77687087-77687088	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
41	rs61991630	chr14:77687106-77687107	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs77447506	chr14:77687206-77687207	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs117549925	chr14:77687210-77687211	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs116946248	chr14:77687212-77687213	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs111943938	chr14:77687224-77687225	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs112118487	chr14:77687225-77687226	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs112492642	chr14:77687226-77687227	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs141755835	chr14:77687230-77687231	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs572706779	chr14:77687235-77687236	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs112887912	chr14:77687242-77687243	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77654200-77709400	Weak transcription	Esophagus	oesophagus
2	chr14:77674800-77686400	Weak transcription	Brain Substantia Nigra	brain
3	chr14:77680000-77686600	Weak transcription	Brain Angular Gyrus	brain
4	chr14:77680200-77688000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:77683200-77686400	Weak transcription	Fetal Brain Male	brain
6	chr14:77685000-77687400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr14:77685000-77692800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:77685200-77690800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:77685400-77686600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:77685400-77687000	Strong transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:77685400-77692600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:77685600-77686600	Enhancers	Liver	Liver
13	chr14:77685600-77687000	Enhancers	Pancreas	Pancrea
14	chr14:77685600-77688000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr14:77685800-77686400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:77685800-77686600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr14:77685800-77686600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr14:77686000-77686600	Enhancers	Spleen	Spleen
19	chr14:77686000-77687000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr14:77686000-77687000	Enhancers	Brain Anterior Caudate	brain
21	chr14:77686000-77688200	Weak transcription	Fetal Brain Female	brain
22	chr14:77686200-77686400	Enhancers	Brain Cingulate Gyrus	brain
23	chr14:77686200-77686400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:77686200-77686400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
25	chr14:77686200-77687000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr14:77686200-77687000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr14:77686200-77687200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr14:77686400-77686600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:77686400-77686600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:77686400-77686600	Enhancers	Fetal Brain Male	brain
31	chr14:77686400-77686800	Enhancers	Brain Hippocampus Middle	brain
32	chr14:77686400-77687000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr14:77686400-77687000	Enhancers	Brain Substantia Nigra	brain
34	chr14:77686400-77687000	Bivalent Enhancer	Right Ventricle	heart
35	chr14:77686400-77687400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr14:77686400-77712400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr14:77686600-77686800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:77686600-77687000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr14:77686600-77687000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr14:77686600-77687000	Enhancers	Brain Angular Gyrus	brain
41	chr14:77686600-77687200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr14:77686600-77688800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:77686600-77689600	Weak transcription	Fetal Brain Male	brain
44	chr14:77686600-77690200	Weak transcription	Spleen	Spleen
45	chr14:77686600-77691800	Weak transcription	Fetal Intestine Small	intestine
46	chr14:77686800-77687000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:77686800-77687000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:77686800-77687000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:77686800-77687200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr14:77686800-77687200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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