Variant report

Variant	esv1795754
Chromosome Location	chr14:69017623-69079110
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:174)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:174 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr14:69053766..69056397-chr14:69258298..69260703,2	MCF-7	breast:
2	chr14:68943428..68945388-chr14:69016683..69019444,2	MCF-7	breast:
3	chr14:69032430..69035080-chr14:69056071..69058771,2	MCF-7	breast:
4	chr14:69033437..69035137-chr14:69037923..69040358,2	K562	blood:
5	chr14:69042225..69044616-chr14:69056393..69058325,2	MCF-7	breast:
6	chr14:69030262..69032857-chr14:69281297..69284839,4	MCF-7	breast:
7	chr14:69022061..69023580-chr14:69250425..69252837,2	MCF-7	breast:
8	chr14:69033011..69036090-chr14:69041393..69045168,4	MCF-7	breast:
9	chr14:69072937..69074516-chr14:69083531..69085230,2	MCF-7	breast:
10	chr14:69010762..69012583-chr14:69020438..69023361,2	MCF-7	breast:
11	chr14:68776230..68777818-chr14:69035775..69037380,2	MCF-7	breast:
12	chr14:69015136..69018224-chr14:69257957..69260697,4	MCF-7	breast:
13	chr14:69063634..69066048-chr14:69070455..69072811,2	K562	blood:
14	chr14:69030473..69032904-chr14:69122357..69124258,2	MCF-7	breast:
15	chr14:69034895..69037596-chr14:69073887..69076844,4	MCF-7	breast:
16	chr14:68860251..68860757-chr14:69036803..69037354,2	MCF-7	breast:
17	chr14:68924227..68926055-chr14:69043237..69046222,3	MCF-7	breast:
18	chr14:68931650..68935082-chr14:69022199..69024459,3	MCF-7	breast:
19	chr14:69027264..69032673-chr14:69034374..69038789,10	MCF-7	breast:
20	chr14:68863006..68865932-chr14:69077018..69079780,3	MCF-7	breast:
21	chr14:68715572..68717664-chr14:69031801..69033626,2	MCF-7	breast:
22	chr14:69020493..69021482-chr14:69036415..69037377,20	MCF-7	breast:
23	chr14:69043150..69045216-chr14:69050685..69052900,2	MCF-7	breast:
24	chr14:69059475..69061008-chr14:69062632..69064559,2	K562	blood:
25	chr14:69040226..69045730-chr14:69257652..69262741,8	MCF-7	breast:
26	chr14:69030740..69033327-chr14:69250048..69252689,2	K562	blood:
27	chr14:69018839..69025167-chr14:69255576..69261923,8	MCF-7	breast:
28	chr14:68406708..68410646-chr14:69052499..69056687,4	MCF-7	breast:
29	chr14:68924273..68927929-chr14:69034368..69037492,4	MCF-7	breast:
30	chr14:68924906..68927378-chr14:69044527..69046149,2	MCF-7	breast:
31	chr14:69043397..69045562-chr14:69085788..69088006,2	MCF-7	breast:
32	chr14:68644130..68645077-chr14:69036391..69037451,11	MCF-7	breast:
33	chr14:69027748..69038857-chr14:69257974..69264472,24	MCF-7	breast:
34	chr14:69036750..69039509-chr14:69055628..69057571,2	MCF-7	breast:
35	chr14:68934455..68938409-chr14:69031168..69034448,4	MCF-7	breast:
36	chr14:69063634..69066048-chr14:69070455..69072811,2	K562	blood:
37	chr14:69055857..69058833-chr14:69094583..69097489,2	MCF-7	breast:
38	chr14:69073750..69075278-chr14:69076266..69078869,2	K562	blood:
39	chr14:69043815..69046176-chr14:69072899..69075411,2	MCF-7	breast:
40	chr14:69029510..69035367-chr14:69250877..69256211,7	MCF-7	breast:
41	chr14:69042594..69046267-chr14:69258129..69261368,4	MCF-7	breast:
42	chr14:69019342..69021876-chr14:69025131..69028551,3	MCF-7	breast:
43	chr14:69075162..69077749-chr14:69093538..69096283,3	MCF-7	breast:
44	chr14:69043815..69046176-chr14:69072899..69075411,2	MCF-7	breast:
45	chr14:68925575..68926342-chr14:69032467..69033626,4	MCF-7	breast:
46	chr14:69033437..69035137-chr14:69037923..69040358,2	K562	blood:
47	chr14:69020386..69021361-chr14:69036539..69037509,4	MCF-7	breast:
48	chr14:69068555..69070348-chr14:69070905..69073728,2	K562	blood:
49	chr14:68925379..68928137-chr14:69035379..69037742,2	MCF-7	breast:
50	chr14:69036503..69037040-chr14:69289209..69289772,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXD2-4	chr14:69029046-69030658	NONHSAT037487
2	lnc-EXD2-3	chr14:69070537-69071064	NONHSAT037488
3	lnc-EXD2-6	chr14:69061202-69061705	NONHSAT037485
4	lnc-EXD2-3	chr14:69075009-69075605	NONHSAT037488
5	lnc-EXD2-5	chr14:69023216-69023577	NONHSAT037486

No data

Variant related genes	Relation type
ENSG00000182185	chromatin interactions
ENSG00000185650	chromatin interactions
ENSG00000259038	chromatin interactions

Extended variants
information (count: 2414 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2414 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536541126	chr14:69017651-69017652	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146342423	chr14:69017717-69017718	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs118087861	chr14:69017759-69017760	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs540012284	chr14:69017802-69017803	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562759777	chr14:69017819-69017820	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10483812	chr14:69017843-69017844	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs189716903	chr14:69017855-69017856	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542168012	chr14:69017882-69017883	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544630012	chr14:69017887-69017888	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562536007	chr14:69017927-69017928	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114552942	chr14:69017966-69017967	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542121020	chr14:69017988-69017989	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560373859	chr14:69017994-69017995	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368951678	chr14:69018018-69018019	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527903692	chr14:69018049-69018050	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560688078	chr14:69018053-69018054	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552468137	chr14:69018066-69018067	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76124130	chr14:69018119-69018120	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111872976	chr14:69018128-69018129	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs181358772	chr14:69018178-69018179	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570990141	chr14:69018217-69018218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568866260	chr14:69018221-69018222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546390647	chr14:69018322-69018323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374609210	chr14:69018327-69018328	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs532098748	chr14:69018377-69018378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs719485	chr14:69018488-69018489	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186790935	chr14:69018550-69018551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs554910286	chr14:69018574-69018575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs566736301	chr14:69018598-69018599	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs142979350	chr14:69018606-69018607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558458902	chr14:69018611-69018612	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191529312	chr14:69018685-69018686	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141053739	chr14:69018769-69018770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs550517399	chr14:69018770-69018771	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374594748	chr14:69018778-69018779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs146138973	chr14:69018782-69018783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs28377700	chr14:69018805-69018806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs574501116	chr14:69018865-69018866	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs183190971	chr14:69018888-69018889	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs560436944	chr14:69018893-69018894	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs148799997	chr14:69018894-69018895	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs369244431	chr14:69018915-69018916	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs546410308	chr14:69018951-69018952	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs186363301	chr14:69018953-69018954	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs375106771	chr14:69019023-69019024	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs547487359	chr14:69019049-69019050	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs550695638	chr14:69019086-69019087	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs12890739	chr14:69019088-69019089	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs12890599	chr14:69019101-69019102	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs549522196	chr14:69019132-69019133	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2333 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69009000-69023600	Enhancers	Fetal Muscle Leg	muscle
2	chr14:69010400-69018600	Enhancers	Fetal Stomach	stomach
3	chr14:69010800-69017800	Enhancers	Stomach Mucosa	stomach
4	chr14:69011400-69018000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:69012600-69018400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:69012800-69019400	Enhancers	Left Ventricle	heart
7	chr14:69012800-69022000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr14:69013000-69019200	Enhancers	Right Atrium	heart
9	chr14:69013400-69018600	Enhancers	Ovary	ovary
10	chr14:69013400-69022600	Enhancers	HUVEC	blood vessel
11	chr14:69013600-69019000	Enhancers	Fetal Heart	heart
12	chr14:69013600-69019800	Enhancers	Fetal Kidney	kidney
13	chr14:69013600-69021200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:69013600-69022600	Enhancers	Adipose Nuclei	Adipose
15	chr14:69013800-69018200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr14:69013800-69018200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:69014000-69018200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr14:69014000-69018400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:69014000-69018600	Enhancers	Fetal Brain Male	brain
20	chr14:69014200-69018200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:69014200-69018200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:69014200-69018600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:69014200-69021000	Weak transcription	Small Intestine	intestine
24	chr14:69014400-69017800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:69014400-69018800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr14:69014400-69019400	Enhancers	Placenta	Placenta
27	chr14:69014400-69022600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:69014400-69022800	Enhancers	Rectal Smooth Muscle	rectum
29	chr14:69014600-69017800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr14:69015000-69017800	Enhancers	HSMM	muscle
31	chr14:69015400-69020400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:69015600-69017800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:69015600-69018400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:69015600-69018800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:69015600-69020400	Enhancers	HMEC	breast
36	chr14:69015600-69021800	Enhancers	HSMMtube	muscle
37	chr14:69015800-69017800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:69015800-69017800	Weak transcription	Esophagus	oesophagus
39	chr14:69015800-69018000	Enhancers	NHLF	lung
40	chr14:69015800-69020400	Enhancers	Stomach Smooth Muscle	stomach
41	chr14:69015800-69022000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr14:69015800-69022600	Enhancers	NHDF-Ad	bronchial
43	chr14:69015800-69022800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:69015800-69023000	Weak transcription	Aorta	Aorta
45	chr14:69016000-69017800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:69016000-69017800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:69016000-69017800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:69016000-69017800	Weak transcription	Colonic Mucosa	Colon
49	chr14:69016000-69018000	Weak transcription	Brain Substantia Nigra	brain
50	chr14:69016000-69019000	Enhancers	Hela-S3	cervix

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