Variant report

Variant	nsv1048209
Chromosome Location	chr14:97083283-97103070
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:97047308..97047841-chr14:97100928..97101485,2	MCF-7	breast:
2	chr14:97100553..97101432-chr14:97126836..97127804,5	MCF-7	breast:
3	chr14:97080445..97082633-chr14:97084397..97086531,2	K562	blood:
4	chr14:97084192..97086627-chr14:97090861..97093279,2	MCF-7	breast:
5	chr14:97040398..97040962-chr14:97100553..97101449,2	MCF-7	breast:
6	chr14:97098302..97100960-chr14:97102875..97104630,2	K562	blood:
7	chr14:97096962..97100936-chr14:97101885..97104048,3	K562	blood:
8	chr14:97041013..97042090-chr14:97100546..97101489,8	MCF-7	breast:
9	chr14:93483695..93484309-chr14:97100592..97101400,2	MCF-7	breast:
10	chr14:97091981..97093780-chr14:97101556..97103907,3	MCF-7	breast:
11	chr14:97093078..97095980-chr14:97096287..97099015,3	MCF-7	breast:
12	chr14:97096962..97100936-chr14:97101885..97104048,3	K562	blood:
13	chr14:97040333..97042090-chr14:97100526..97101489,19	MCF-7	breast:
14	chr14:97079988..97082344-chr14:97083126..97085624,2	MCF-7	breast:
15	chr14:97084192..97086627-chr14:97090861..97093279,2	MCF-7	breast:
16	chr14:97085374..97088173-chr14:97091908..97094865,2	K562	blood:
17	chr14:97047039..97047841-chr14:97100546..97101485,3	MCF-7	breast:
18	chr14:97085374..97088173-chr14:97091908..97094865,2	K562	blood:
19	chr14:97093078..97095980-chr14:97096287..97099015,3	MCF-7	breast:
20	chr14:97100866..97101454-chr14:97138053..97138598,2	MCF-7	breast:
21	chr14:97091981..97093780-chr14:97101556..97103907,3	MCF-7	breast:
22	chr14:97040936..97041835-chr14:97100556..97101428,4	MCF-7	breast:
23	chr14:97098302..97100960-chr14:97102875..97104630,2	K562	blood:

No data

Extended variants
information (count: 954 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:954 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146287179	chr14:97083288-97083289	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs56309563	chr14:97083320-97083321	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs56100634	chr14:97083340-97083341	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs534127906	chr14:97083403-97083404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201379619	chr14:97083405-97083406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190029550	chr14:97083434-97083435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536180193	chr14:97083437-97083438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377449054	chr14:97083473-97083474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563168265	chr14:97083493-97083494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575475591	chr14:97083529-97083530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542591696	chr14:97083533-97083534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56387114	chr14:97083546-97083547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552916051	chr14:97083551-97083552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572788202	chr14:97083571-97083572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562106906	chr14:97083574-97083575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529318689	chr14:97083599-97083600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs234594	chr14:97083600-97083601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs180773620	chr14:97083607-97083608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559845806	chr14:97083637-97083638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533480943	chr14:97083639-97083640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139416294	chr14:97083659-97083660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368149998	chr14:97083711-97083712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141766918	chr14:97083755-97083756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117933773	chr14:97083836-97083837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184608888	chr14:97083845-97083846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575401009	chr14:97083856-97083857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370669707	chr14:97083869-97083870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374375705	chr14:97083909-97083910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567247923	chr14:97083915-97083916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28568353	chr14:97083919-97083920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534273674	chr14:97083921-97083922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189225426	chr14:97083963-97083964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150566661	chr14:97083976-97083977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139554647	chr14:97083991-97083992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535435369	chr14:97084072-97084073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181785994	chr14:97084117-97084118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186305653	chr14:97084135-97084136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375023238	chr14:97084154-97084155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554521034	chr14:97084165-97084166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573101969	chr14:97084243-97084244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150017387	chr14:97084289-97084290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532545656	chr14:97084300-97084301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551033973	chr14:97084302-97084303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533442309	chr14:97084350-97084351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375378500	chr14:97084364-97084365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545552240	chr14:97084370-97084371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368226980	chr14:97084432-97084433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11454889	chr14:97084440-97084441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35878456	chr14:97084476-97084477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs530404746	chr14:97084494-97084495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Glioblastoma	21080181	CNVD
Cancer	20164920	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Breast cancer	21509527	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	17426248	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97080200-97084000	Enhancers	Fetal Brain Male	brain
2	chr14:97080600-97083400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:97081400-97083600	Enhancers	Fetal Brain Female	brain
4	chr14:97081600-97090200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:97082200-97083400	Enhancers	Fetal Intestine Small	intestine
6	chr14:97083000-97083400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:97083000-97084000	Enhancers	Duodenum Mucosa	Duodenum
8	chr14:97083200-97083400	Enhancers	Brain Germinal Matrix	brain
9	chr14:97083400-97083600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:97084000-97090000	Weak transcription	Fetal Brain Male	brain
11	chr14:97084000-97096200	Weak transcription	Right Atrium	heart
12	chr14:97085400-97085800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:97088600-97088800	Enhancers	Brain Germinal Matrix	brain
14	chr14:97088800-97090600	Weak transcription	Brain Germinal Matrix	brain
15	chr14:97090000-97094600	Enhancers	Fetal Brain Male	brain
16	chr14:97090200-97091600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:97090200-97091600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
18	chr14:97090200-97093200	Weak transcription	Spleen	Spleen
19	chr14:97090400-97093000	Enhancers	Fetal Brain Female	brain
20	chr14:97090600-97091000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr14:97090600-97091600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr14:97090600-97092000	Enhancers	Brain Germinal Matrix	brain
23	chr14:97090800-97091400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:97091000-97091200	Bivalent Enhancer	Fetal Stomach	stomach
25	chr14:97091000-97091400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:97091000-97091600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:97091000-97091600	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr14:97091000-97092200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:97091200-97091400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr14:97091200-97091400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr14:97091400-97091600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr14:97091400-97092600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:97091400-97093000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr14:97091600-97092000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:97092000-97092200	Bivalent Enhancer	Brain Hippocampus Middle	brain
36	chr14:97092000-97092400	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr14:97092000-97095800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:97092400-97092600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr14:97092400-97094400	Enhancers	Brain Germinal Matrix	brain
40	chr14:97092800-97093000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:97093000-97093200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr14:97093000-97093200	Enhancers	GM12878-XiMat	blood
43	chr14:97093000-97093200	Bivalent/Poised TSS	K562	blood
44	chr14:97093000-97093600	Flanking Bivalent TSS/Enh	NHEK	skin
45	chr14:97093000-97094000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:97093000-97094400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:97093200-97093400	Enhancers	Spleen	Spleen
48	chr14:97093200-97093600	Flanking Active TSS	GM12878-XiMat	blood
49	chr14:97093200-97093600	Flanking Bivalent TSS/Enh	K562	blood
50	chr14:97093200-97093800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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