Variant report

Variant	esv11173
Chromosome Location	chr14:65432340-65438052
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65408109..65412260-chr14:65433845..65436986,6	MCF-7	breast:
2	chr14:65422596..65425109-chr14:65437838..65439509,2	MCF-7	breast:
3	chr14:65424121..65427590-chr14:65430879..65434090,3	MCF-7	breast:
4	chr14:65408375..65411114-chr14:65437552..65439159,4	MCF-7	breast:
5	chr14:65428039..65432050-chr14:65432116..65435145,5	MCF-7	breast:
6	chr14:65380105..65382840-chr14:65437077..65439744,4	MCF-7	breast:
7	chr12:104227614..104228508-chr14:65436977..65437892,2	MCF-7	breast:
8	chr14:65433037..65434817-chr14:65446366..65448711,2	MCF-7	breast:
9	chr14:65435373..65439522-chr14:65449572..65455038,8	MCF-7	breast:
10	chr14:65433002..65436926-chr14:65451032..65453686,3	MCF-7	breast:
11	chr14:65381042..65382655-chr14:65437640..65439751,2	MCF-7	breast:
12	chr14:65435316..65436014-chr14:65450894..65451775,2	MCF-7	breast:
13	chr14:65380772..65382817-chr14:65433113..65436626,3	MCF-7	breast:
14	chr14:64804135..64806970-chr14:65434960..65437398,2	MCF-7	breast:
15	chr14:65435007..65437105-chr14:65446838..65448474,2	MCF-7	breast:
16	chr14:65432320..65436010-chr14:65436140..65441261,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000176153	chromatin interactions
ENSG00000139998	chromatin interactions
ENSG00000125954	chromatin interactions
ENSG00000258289	chromatin interactions
ENSG00000257365	chromatin interactions
ENSG00000140009	chromatin interactions
ENSG00000214770	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:194 , 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	rs35132885	chr14:65432343-65432344	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565055598	chr14:65432355-65432356	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs375518133	chr14:65432415-65432416	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547309741	chr14:65432420-65432421	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs567100278	chr14:65432455-65432456	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529392377	chr14:65432467-65432468	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549054615	chr14:65432563-65432564	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568967744	chr14:65432591-65432592	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553921092	chr14:65432601-65432602	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs4899156	chr14:65432602-65432603	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs536347817	chr14:65432603-65432604	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551721568	chr14:65432613-65432614	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs193133590	chr14:65432630-65432631	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142494687	chr14:65432654-65432655	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34343579	chr14:65432664-65432665	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574276818	chr14:65432682-65432683	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536802932	chr14:65432724-65432725	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556298125	chr14:65432849-65432850	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs185241341	chr14:65432992-65432993	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs140595595	chr14:65432995-65432996	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150490653	chr14:65432996-65432997	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572278869	chr14:65433015-65433016	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs555957618	chr14:65433029-65433030	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs111638598	chr14:65433098-65433099	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs189253681	chr14:65433165-65433166	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs529846607	chr14:65433223-65433224	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs376629286	chr14:65433235-65433236	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs199979215	chr14:65433240-65433241	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs74809581	chr14:65433246-65433247	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs562661925	chr14:65433249-65433250	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs201071567	chr14:65433250-65433251	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs551515072	chr14:65433253-65433254	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs571615685	chr14:65433254-65433255	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs138409729	chr14:65433310-65433311	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs4899158	chr14:65433331-65433332	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs577908397	chr14:65433404-65433405	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs77033493	chr14:65433410-65433411	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs536860279	chr14:65433415-65433416	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs556761000	chr14:65433503-65433504	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs185547148	chr14:65433570-65433571	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs564966487	chr14:65433587-65433588	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs529239216	chr14:65433615-65433616	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs138842580	chr14:65433616-65433617	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs529441191	chr14:65433658-65433659	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs571997052	chr14:65433674-65433675	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs200933167	chr14:65433714-65433715	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs549216843	chr14:65433715-65433716	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs114328388	chr14:65433716-65433717	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs8004904	chr14:65433717-65433718	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs543226254	chr14:65433739-65433740	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17440070	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65401600-65435000	Weak transcription	NH-A	brain
2	chr14:65406600-65438000	Weak transcription	Fetal Kidney	kidney
3	chr14:65411000-65437200	Weak transcription	Fetal Lung	lung
4	chr14:65411200-65435000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:65411400-65435000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:65411400-65438000	Weak transcription	Small Intestine	intestine
7	chr14:65412400-65438000	Weak transcription	Brain Substantia Nigra	brain
8	chr14:65415400-65432400	Weak transcription	Ovary	ovary
9	chr14:65415400-65438200	Weak transcription	Aorta	Aorta
10	chr14:65415600-65437600	Weak transcription	Colonic Mucosa	Colon
11	chr14:65417600-65437200	Weak transcription	Adipose Nuclei	Adipose
12	chr14:65417800-65437600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:65418200-65435400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:65418400-65435000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:65419000-65432600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:65419000-65433400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:65419000-65434600	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:65419000-65435400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:65419200-65433400	Weak transcription	Lung	lung
20	chr14:65419400-65436600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:65419400-65437800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:65419600-65437600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:65420200-65436600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:65420800-65437400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr14:65422800-65437600	Weak transcription	Spleen	Spleen
26	chr14:65423400-65436800	Weak transcription	Dnd41	blood
27	chr14:65424000-65436800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:65426000-65438200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:65427800-65435000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:65427800-65435000	Weak transcription	HSMM	muscle
31	chr14:65427800-65435200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr14:65427800-65437000	Weak transcription	Thymus	Thymus
33	chr14:65427800-65437400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:65428000-65432400	Weak transcription	Fetal Heart	heart
35	chr14:65428000-65433400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr14:65428000-65433400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr14:65428000-65433400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:65428000-65433600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:65428000-65433600	Weak transcription	Pancreas	Pancrea
40	chr14:65428000-65434400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr14:65428000-65434600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:65428000-65434600	Weak transcription	Brain Germinal Matrix	brain
43	chr14:65428000-65435000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:65428000-65435200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:65428000-65435200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:65428000-65435200	Weak transcription	A549	lung
47	chr14:65428000-65435400	Weak transcription	Fetal Thymus	thymus
48	chr14:65428000-65436800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr14:65428000-65437000	Weak transcription	HepG2	liver
50	chr14:65428000-65437800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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