Variant report

Variant	esv3347972
Chromosome Location	chr14:69332644-69333174
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	chr14:69331683..69333924-chr14:69444602..69446357,2	MCF-7	breast:
2	chr14:69329871..69332801-chr14:69360773..69363561,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072110	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565099566	chr14:69332829-69332830	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs577163789	chr14:69332830-69332831	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145601959	chr14:69332838-69332839	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs199756965	chr14:69332872-69332873	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560653803	chr14:69332877-69332878	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370688457	chr14:69332883-69332884	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs8004997	chr14:69332885-69332886	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs374600982	chr14:69332887-69332888	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373782919	chr14:69332888-69332889	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs367662090	chr14:69332908-69332909	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs372068014	chr14:69332909-69332910	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375087228	chr14:69332914-69332915	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368320381	chr14:69332919-69332920	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371914730	chr14:69332925-69332926	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376402564	chr14:69332926-69332927	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs370006491	chr14:69332932-69332933	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372772168	chr14:69332933-69332934	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562461618	chr14:69332943-69332944	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112934421	chr14:69332944-69332945	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs143755106	chr14:69332948-69332949	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370283176	chr14:69332956-69332957	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374106535	chr14:69332964-69332965	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374841075	chr14:69332979-69332980	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368802916	chr14:69332980-69332981	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372859672	chr14:69332988-69332989	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375865708	chr14:69332991-69332992	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs369843806	chr14:69332992-69332993	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs373220250	chr14:69332995-69332996	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377310100	chr14:69332996-69332997	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371217408	chr14:69333024-69333025	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375514007	chr14:69333026-69333027	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs377414150	chr14:69333033-69333034	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188778544	chr14:69333079-69333080	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373128453	chr14:69333098-69333099	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs560224737	chr14:69333104-69333105	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs76945613	chr14:69333137-69333138	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs1742890	chr14:69333138-69333139	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs4902659	chr14:69333169-69333170	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs139684554	chr14:69333172-69333173	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69310800-69336400	Weak transcription	NHLF	lung
2	chr14:69310800-69339800	Weak transcription	Right Ventricle	heart
3	chr14:69320600-69334400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:69321200-69338000	Weak transcription	Gastric	stomach
5	chr14:69322400-69336600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:69323800-69337800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:69324800-69338600	Weak transcription	HepG2	liver
8	chr14:69328000-69334000	Weak transcription	NH-A	brain
9	chr14:69328200-69336600	Weak transcription	HMEC	breast
10	chr14:69328800-69336200	Weak transcription	HSMM	muscle
11	chr14:69329600-69338200	Weak transcription	Pancreas	Pancrea
12	chr14:69330000-69338400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:69330000-69351000	Weak transcription	Fetal Heart	heart
14	chr14:69330200-69338000	Weak transcription	Hela-S3	cervix
15	chr14:69330200-69338200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:69330200-69348200	Weak transcription	K562	blood
17	chr14:69331000-69332800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:69331000-69332800	Strong transcription	HSMMtube	muscle
19	chr14:69331200-69332800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:69331200-69332800	Strong transcription	Osteobl	bone
21	chr14:69331200-69338200	Weak transcription	Colonic Mucosa	Colon
22	chr14:69331200-69350800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:69331400-69332800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr14:69331400-69344600	Weak transcription	Brain Angular Gyrus	brain
25	chr14:69331600-69332800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:69331800-69332800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
27	chr14:69332000-69332800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr14:69332000-69332800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:69332000-69332800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:69332000-69332800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr14:69332200-69332800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:69332200-69332800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:69332200-69332800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:69332200-69332800	ZNF genes & repeats	Liver	Liver
35	chr14:69332200-69332800	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr14:69332200-69332800	ZNF genes & repeats	A549	lung
37	chr14:69332200-69332800	ZNF genes & repeats	NHEK	skin
38	chr14:69332200-69333200	ZNF genes & repeats	Aorta	Aorta
39	chr14:69332200-69333200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
40	chr14:69332200-69333400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:69332200-69333400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
42	chr14:69332400-69332800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:69332400-69332800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:69332400-69332800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr14:69332400-69332800	ZNF genes & repeats	HUVEC	blood vessel
46	chr14:69332400-69333400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:69332600-69332800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr14:69332600-69332800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:69332600-69332800	ZNF genes & repeats	Esophagus	oesophagus
50	chr14:69332600-69332800	ZNF genes & repeats	Fetal Stomach	stomach

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