Variant report

Variant	nsv1035284
Chromosome Location	chr14:25267840-25285191
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:25275324..25276030-chr14:25620025..25620602,2	K562	blood:
2	chr14:25275176..25276196-chr14:25601801..25602663,4	MCF-7	breast:
3	chr14:25275205..25275993-chr14:25619860..25620768,3	MCF-7	breast:
4	chr14:25179637..25180289-chr14:25275151..25276052,2	MCF-7	breast:
5	chr14:25275628..25276165-chr14:25620088..25620783,2	MCF-7	breast:
6	chr14:25275348..25276037-chr14:25510991..25511724,2	MCF-7	breast:
7	chr14:25278755..25280361-chr14:25308783..25311776,2	MCF-7	breast:
8	chr14:25275483..25276064-chr4:145324301..145324821,2	MCF-7	breast:
9	chr14:25275145..25275846-chr14:25601792..25602797,3	K562	blood:
10	chr14:25277222..25279364-chr14:25286219..25288103,2	K562	blood:
11	chr14:25274769..25276064-chr14:25511769..25512775,13	MCF-7	breast:
12	chr14:25275376..25275994-chr4:145324301..145324822,2	MCF-7	breast:
13	chr14:25279193..25282609-chr14:25287302..25290092,3	MCF-7	breast:
14	chr14:25275252..25276232-chr14:25706794..25707562,4	MCF-7	breast:
15	chr14:25275544..25276429-chr14:25600109..25600712,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168952	chromatin interactions

Extended variants
information (count: 670 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:670 , 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	rs527263329	chr14:25267860-25267861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147811550	chr14:25267880-25267881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575440842	chr14:25267887-25267888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113675665	chr14:25267914-25267915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185084296	chr14:25267944-25267945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74376570	chr14:25267970-25267971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs854375	chr14:25267984-25267985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187983571	chr14:25267985-25267986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144522650	chr14:25267989-25267990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs66742721	chr14:25267990-25267991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568027086	chr14:25267993-25267994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs854376	chr14:25267994-25267995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140229725	chr14:25268002-25268003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs60057071	chr14:25268010-25268011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552438687	chr14:25268063-25268064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181915913	chr14:25268103-25268104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560961073	chr14:25268106-25268107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368954428	chr14:25268126-25268127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530910325	chr14:25268194-25268195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537634251	chr14:25268238-25268239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs854377	chr14:25268337-25268338	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557462670	chr14:25268338-25268339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574029074	chr14:25268368-25268369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140305408	chr14:25268409-25268410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546888574	chr14:25268421-25268422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75615076	chr14:25268435-25268436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369868206	chr14:25268453-25268454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542680676	chr14:25268482-25268483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs854378	chr14:25268562-25268563	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs377624983	chr14:25268626-25268627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537559006	chr14:25268676-25268677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370848540	chr14:25268679-25268680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528544604	chr14:25268712-25268713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554683145	chr14:25268713-25268714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546625487	chr14:25268736-25268737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373240388	chr14:25268773-25268774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574328833	chr14:25268855-25268856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540278468	chr14:25268904-25268905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554095376	chr14:25268906-25268907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577216074	chr14:25268911-25268912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545970999	chr14:25268920-25268921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201862128	chr14:25269002-25269003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112628345	chr14:25269004-25269005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199784998	chr14:25269006-25269007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562561418	chr14:25269038-25269039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376515465	chr14:25269105-25269106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531570334	chr14:25269121-25269122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544359189	chr14:25269140-25269141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561482516	chr14:25269141-25269142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149895640	chr14:25269156-25269157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25261800-25268200	Weak transcription	Fetal Lung	lung
2	chr14:25266600-25273800	Weak transcription	Stomach Mucosa	stomach
3	chr14:25268200-25268600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:25268200-25268600	Enhancers	GM12878-XiMat	blood
5	chr14:25268200-25268800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr14:25268200-25268800	Enhancers	Fetal Lung	lung
7	chr14:25268400-25268600	Enhancers	Lung	lung
8	chr14:25268400-25268800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr14:25268400-25269200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:25268600-25273400	Weak transcription	Lung	lung
11	chr14:25268800-25273400	Weak transcription	Fetal Lung	lung
12	chr14:25269200-25272000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:25269600-25270800	Enhancers	HepG2	liver
14	chr14:25269600-25273000	Weak transcription	Right Ventricle	heart
15	chr14:25270800-25271000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr14:25270800-25273400	Weak transcription	HepG2	liver
17	chr14:25271000-25273200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:25272200-25272400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:25272200-25275400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:25272400-25273400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:25272400-25283400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:25273000-25273400	Enhancers	Pancreas	Pancrea
23	chr14:25273000-25274000	Enhancers	Right Ventricle	heart
24	chr14:25273200-25276800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr14:25273400-25274600	Enhancers	Lung	lung
26	chr14:25273400-25275200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:25273400-25276200	Enhancers	Fetal Lung	lung
28	chr14:25273400-25276200	Enhancers	HepG2	liver
29	chr14:25273400-25277600	Enhancers	Fetal Intestine Small	intestine
30	chr14:25273400-25277600	Weak transcription	Pancreas	Pancrea
31	chr14:25273400-25278200	Enhancers	Fetal Intestine Large	intestine
32	chr14:25273800-25274000	Enhancers	Gastric	stomach
33	chr14:25273800-25276000	Enhancers	Stomach Mucosa	stomach
34	chr14:25274000-25274600	Enhancers	Duodenum Mucosa	Duodenum
35	chr14:25274000-25275400	Weak transcription	Right Ventricle	heart
36	chr14:25274000-25283000	Weak transcription	Gastric	stomach
37	chr14:25274200-25274600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:25274400-25274600	Enhancers	Left Ventricle	heart
39	chr14:25274400-25275600	Enhancers	Fetal Muscle Leg	muscle
40	chr14:25274600-25274800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr14:25274600-25275200	Weak transcription	Lung	lung
42	chr14:25274600-25275400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr14:25274600-25275400	Weak transcription	Left Ventricle	heart
44	chr14:25275000-25275200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:25275000-25276600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr14:25275000-25279400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:25275200-25275400	Enhancers	Lung	lung
48	chr14:25275200-25275600	Enhancers	Brain Hippocampus Middle	brain
49	chr14:25275200-25275800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:25275200-25276000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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