Variant report

Variant	esv3388109
Chromosome Location	chr14:71888248-71908062
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:71786410..71788050-chr14:71885965..71888835,2	MCF-7	breast:
2	chr14:71894769..71896723-chr14:71920391..71921906,2	MCF-7	breast:
3	chr14:71890976..71893718-chr14:71893758..71896619,2	K562	blood:
4	chr14:71890976..71893718-chr14:71893758..71896619,2	K562	blood:
5	chr14:71899659..71902752-chr14:71906518..71909457,3	MCF-7	breast:
6	chr14:71908040..71909554-chr14:71914806..71916309,2	K562	blood:
7	chr14:71881830..71883799-chr14:71900386..71901976,2	K562	blood:
8	chr14:71899659..71902752-chr14:71906518..71909457,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIPA1L1-2	chr14:71905719-71905991	NONHSAT037636

No data

Variant related genes	Relation type
ENSG00000197555	chromatin interactions
ENSG00000242330	chromatin interactions

Extended variants
information (count: 692 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:692 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145259729	chr14:71888257-71888258	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546905622	chr14:71888262-71888263	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs190107946	chr14:71888285-71888286	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs34592380	chr14:71888309-71888310	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs66579663	chr14:71888310-71888311	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs71427112	chr14:71888344-71888345	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs201024795	chr14:71888346-71888347	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371216981	chr14:71888366-71888367	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568973096	chr14:71888417-71888418	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75226431	chr14:71888477-71888478	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs8007521	chr14:71888499-71888500	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs372866604	chr14:71888537-71888538	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs181808471	chr14:71888629-71888630	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs8008110	chr14:71888630-71888631	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs555041986	chr14:71888658-71888659	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577949828	chr14:71888703-71888704	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs149171934	chr14:71888719-71888720	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs186780572	chr14:71888721-71888722	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191997517	chr14:71888773-71888774	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542666497	chr14:71888804-71888805	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554406531	chr14:71888808-71888809	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573354369	chr14:71888847-71888848	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs58851135	chr14:71888850-71888851	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs184217242	chr14:71888864-71888865	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs570840684	chr14:71888949-71888950	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs74456345	chr14:71888958-71888959	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs532414009	chr14:71888978-71888979	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs544200377	chr14:71889053-71889054	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs187753100	chr14:71889054-71889055	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs117642251	chr14:71889064-71889065	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs549450006	chr14:71889082-71889083	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs189832276	chr14:71889102-71889103	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs528450281	chr14:71889115-71889116	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs148363511	chr14:71889117-71889118	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs571327000	chr14:71889123-71889124	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs182156841	chr14:71889158-71889159	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs4902932	chr14:71889159-71889160	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs569424447	chr14:71889161-71889162	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs536491353	chr14:71889166-71889167	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs554626074	chr14:71889219-71889220	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs140640650	chr14:71889221-71889222	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs540347550	chr14:71889296-71889297	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs111368274	chr14:71889360-71889361	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs576911645	chr14:71889363-71889364	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs115688720	chr14:71889391-71889392	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs562683195	chr14:71889410-71889411	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs187080395	chr14:71889418-71889419	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs192816226	chr14:71889440-71889441	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs553532715	chr14:71889446-71889447	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs545270857	chr14:71889453-71889454	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71866000-71889000	Weak transcription	Dnd41	blood
2	chr14:71867200-71892200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:71868200-71891400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:71869600-71904200	Weak transcription	Hela-S3	cervix
5	chr14:71870600-71891000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr14:71871600-71899600	Weak transcription	Primary B cells from cord blood	blood
7	chr14:71874400-71897000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:71875800-71889400	Weak transcription	Fetal Kidney	kidney
9	chr14:71875800-71897400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:71876000-71891000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr14:71876200-71889000	Weak transcription	HSMM	muscle
12	chr14:71876200-71890800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:71876200-71896800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:71877000-71888400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:71877800-71888800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr14:71878200-71891000	Weak transcription	Liver	Liver
17	chr14:71878400-71891400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:71878600-71888600	Weak transcription	Primary T cells from cord blood	blood
19	chr14:71878600-71897200	Weak transcription	Thymus	Thymus
20	chr14:71878600-71905200	Weak transcription	Aorta	Aorta
21	chr14:71881200-71899000	Weak transcription	Fetal Intestine Small	intestine
22	chr14:71882000-71888400	Weak transcription	Fetal Stomach	stomach
23	chr14:71882200-71888400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr14:71882400-71904400	Weak transcription	NH-A	brain
25	chr14:71882800-71891200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:71883400-71891000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:71883600-71888600	Weak transcription	Osteobl	bone
28	chr14:71883800-71890200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:71883800-71890800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:71883800-71892200	Weak transcription	HMEC	breast
31	chr14:71883800-71905800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:71884000-71889000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:71884000-71889200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:71884000-71890000	Weak transcription	NHEK	skin
35	chr14:71884000-71897200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:71884200-71888400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr14:71885600-71889400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:71885800-71888800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:71885800-71890200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:71885800-71890800	Weak transcription	NHDF-Ad	bronchial
41	chr14:71885800-71915400	Weak transcription	Pancreas	Pancrea
42	chr14:71886000-71888400	Weak transcription	GM12878-XiMat	blood
43	chr14:71886000-71888600	Weak transcription	K562	blood
44	chr14:71887000-71889800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr14:71887000-71891200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:71887200-71890800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr14:71887400-71889400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:71888200-71889600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr14:71888400-71888800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr14:71888400-71888800	Strong transcription	GM12878-XiMat	blood

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