Variant report

Variant	esv3434532
Chromosome Location	chr14:71414399-71417147
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	chr14:71414782..71415566-chr17:56717102..56717602,2	MCF-7	breast:
2	chr14:71372532..71376222-chr14:71415679..71419226,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAP3K9-6	chr14:71416315-71416475	NONHSAT037599

Variant related genes	Relation type
ENSG00000100731	chromatin interactions

Extended variants
information (count: 209 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189596230	chr14:71414453-71414454	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567010148	chr14:71414455-71414456	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534849301	chr14:71414483-71414484	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181601144	chr14:71414501-71414502	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28659887	chr14:71414510-71414511	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538579328	chr14:71414513-71414514	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530273340	chr14:71414533-71414534	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557247163	chr14:71414542-71414543	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576514382	chr14:71414558-71414559	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140940867	chr14:71414631-71414632	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34166424	chr14:71414638-71414639	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562209937	chr14:71414643-71414644	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28824190	chr14:71414661-71414662	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184711545	chr14:71414681-71414682	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559711609	chr14:71414685-71414686	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574383965	chr14:71414725-71414726	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373255211	chr14:71414738-71414739	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551789289	chr14:71414743-71414744	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563596947	chr14:71414768-71414769	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530461428	chr14:71414800-71414801	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150905723	chr14:71414807-71414808	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567059758	chr14:71414830-71414831	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534436591	chr14:71414851-71414852	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546649270	chr14:71414885-71414886	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571358140	chr14:71414918-71414919	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139389722	chr14:71414922-71414923	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150059571	chr14:71414967-71414968	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374019521	chr14:71414978-71414979	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376057269	chr14:71414997-71414998	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569170761	chr14:71415022-71415023	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537470181	chr14:71415039-71415040	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145474879	chr14:71415064-71415065	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548372613	chr14:71415074-71415075	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541187234	chr14:71415093-71415094	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553384088	chr14:71415126-71415127	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578115925	chr14:71415127-71415128	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369319774	chr14:71415131-71415132	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560677105	chr14:71415138-71415139	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528156356	chr14:71415154-71415155	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190376566	chr14:71415157-71415158	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367989275	chr14:71415312-71415313	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546342082	chr14:71415314-71415315	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543385941	chr14:71415316-71415317	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544081997	chr14:71415319-71415320	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533059580	chr14:71415333-71415334	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571240307	chr14:71415335-71415336	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181467043	chr14:71415338-71415339	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139076999	chr14:71415348-71415349	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144050098	chr14:71415352-71415353	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59880130	chr14:71415358-71415359	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

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
Prostate cancer	18632612	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
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71401000-71443800	Weak transcription	Right Ventricle	heart
2	chr14:71402200-71442800	Weak transcription	HSMMtube	muscle
3	chr14:71402400-71414400	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:71408400-71415200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:71408400-71416800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr14:71408600-71414800	ZNF genes & repeats	Dnd41	blood
7	chr14:71408600-71415000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:71408600-71417000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:71409000-71415000	ZNF genes & repeats	Primary B cells from cord blood	blood
10	chr14:71409200-71415000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr14:71409200-71415200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr14:71409200-71416600	ZNF genes & repeats	GM12878-XiMat	blood
13	chr14:71409200-71417200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr14:71410400-71415200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:71410800-71414600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:71411000-71414400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:71411000-71414400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:71411000-71414400	Weak transcription	Aorta	Aorta
19	chr14:71411000-71414400	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:71411000-71414400	Weak transcription	Esophagus	oesophagus
21	chr14:71411000-71414600	Weak transcription	Pancreas	Pancrea
22	chr14:71411000-71415800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:71411000-71416200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr14:71411000-71416400	Weak transcription	Colonic Mucosa	Colon
25	chr14:71411000-71443200	Weak transcription	Hela-S3	cervix
26	chr14:71411000-71443600	Weak transcription	NHLF	lung
27	chr14:71411000-71443800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:71411000-71443800	Weak transcription	Gastric	stomach
29	chr14:71411200-71414400	Weak transcription	Lung	lung
30	chr14:71411200-71414600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:71411200-71428400	Weak transcription	NH-A	brain
32	chr14:71411400-71415200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
33	chr14:71411400-71419400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr14:71411400-71429200	Weak transcription	HUVEC	blood vessel
35	chr14:71411400-71444000	Weak transcription	Brain Angular Gyrus	brain
36	chr14:71411600-71414600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:71411800-71414400	Weak transcription	Spleen	Spleen
38	chr14:71411800-71414600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:71411800-71444200	Weak transcription	Fetal Brain Male	brain
40	chr14:71412000-71414400	Weak transcription	Fetal Stomach	stomach
41	chr14:71412000-71414400	Weak transcription	A549	lung
42	chr14:71412400-71419600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:71412600-71414400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr14:71412600-71415000	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr14:71412800-71416800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr14:71412800-71420000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:71413000-71414400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr14:71413000-71415000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr14:71413000-71418000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:71413200-71414400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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