Variant report

Variant	esv3331265
Chromosome Location	chr14:67511588-67512179
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	chr14:67510207..67512789-chr14:67538433..67540909,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61989653	chr14:67511596-67511597	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs544164726	chr14:67511660-67511661	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs182519261	chr14:67511687-67511688	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs574431842	chr14:67511696-67511697	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs541562686	chr14:67511744-67511745	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs10220477	chr14:67511747-67511748	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs199852930	chr14:67511777-67511778	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs377686520	chr14:67511781-67511782	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs200835166	chr14:67511804-67511805	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs534746160	chr14:67511812-67511813	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs527522142	chr14:67511813-67511814	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs187693194	chr14:67511830-67511831	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs141686861	chr14:67511835-67511836	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs146282333	chr14:67511837-67511838	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs116865477	chr14:67511842-67511843	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs116796189	chr14:67511848-67511849	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs117228571	chr14:67511855-67511856	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs190976626	chr14:67511861-67511862	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs150006305	chr14:67511864-67511865	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs145683705	chr14:67511866-67511867	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs140228438	chr14:67511869-67511870	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs146041361	chr14:67511872-67511873	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs144723299	chr14:67511873-67511874	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs142424791	chr14:67511879-67511880	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs140831930	chr14:67511884-67511885	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs143526478	chr14:67511887-67511888	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs146529135	chr14:67511896-67511897	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs35792309	chr14:67511935-67511936	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs149111634	chr14:67511960-67511961	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs182439747	chr14:67511972-67511973	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs74552654	chr14:67512000-67512001	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs76246243	chr14:67512018-67512019	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs199955388	chr14:67512030-67512031	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs189154872	chr14:67512043-67512044	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs143147580	chr14:67512073-67512074	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs192368727	chr14:67512089-67512090	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs530194140	chr14:67512107-67512108	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs61989654	chr14:67512119-67512120	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs117276820	chr14:67512125-67512126	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs61989655	chr14:67512127-67512128	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs560657174	chr14:67512128-67512129	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs61989656	chr14:67512129-67512130	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs61989657	chr14:67512133-67512134	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs61989658	chr14:67512144-67512145	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs61989659	chr14:67512152-67512153	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs61990860	chr14:67512160-67512161	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs61990861	chr14:67512164-67512165	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs61990862	chr14:67512170-67512171	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	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	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67511200-67511600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr14:67511200-67511600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
3	chr14:67511200-67511600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:67511200-67511600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:67511200-67511600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:67511200-67511600	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
7	chr14:67511200-67511600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:67511200-67511600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:67511200-67511600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:67511200-67511600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:67511200-67511600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
12	chr14:67511200-67511600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
13	chr14:67511200-67511600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
14	chr14:67511200-67511600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:67511200-67511600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:67511200-67511600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:67511200-67511600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
18	chr14:67511200-67511600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
19	chr14:67511200-67511600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr14:67511200-67511600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr14:67511200-67511600	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
22	chr14:67511200-67511600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
23	chr14:67511200-67511600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:67511200-67511600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:67511200-67511600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
26	chr14:67511200-67511600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
27	chr14:67511200-67511600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:67511200-67511600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
29	chr14:67511200-67511600	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
30	chr14:67511200-67511600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:67511200-67511600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
32	chr14:67511200-67511600	ZNF genes & repeats	Aorta	Aorta
33	chr14:67511200-67511600	ZNF genes & repeats	Liver	Liver
34	chr14:67511200-67511600	ZNF genes & repeats	Brain Anterior Caudate	brain
35	chr14:67511200-67511600	ZNF genes & repeats	Brain Hippocampus Middle	brain
36	chr14:67511200-67511600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
37	chr14:67511200-67511600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:67511200-67511600	ZNF genes & repeats	Brain Substantia Nigra	brain
39	chr14:67511200-67511600	ZNF genes & repeats	Colon Smooth Muscle	Colon
40	chr14:67511200-67511600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
41	chr14:67511200-67511600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
42	chr14:67511200-67511600	ZNF genes & repeats	Esophagus	oesophagus
43	chr14:67511200-67511600	ZNF genes & repeats	Fetal Kidney	kidney
44	chr14:67511200-67511600	ZNF genes & repeats	Gastric	stomach
45	chr14:67511200-67511600	ZNF genes & repeats	Left Ventricle	heart
46	chr14:67511200-67511600	ZNF genes & repeats	Ovary	ovary
47	chr14:67511200-67511600	ZNF genes & repeats	Pancreas	Pancrea
48	chr14:67511200-67511600	ZNF genes & repeats	Psoas Muscle	Psoas
49	chr14:67511200-67511600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
50	chr14:67511200-67511600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum

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