Variant report

Variant	nsv85420
Chromosome Location	chr14:103934035-103936396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:103934297-103934366	K562	blood:	n/a	n/a
2	ZNF384	chr14:103933912-103934232	K562	blood:	n/a	n/a
3	ZNF384	chr14:103933921-103934196	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103936184..103939153-chr14:103940230..103942557,2	MCF-7	breast:
2	chr14:103928725..103932074-chr14:103935042..103939348,3	MCF-7	breast:

Variant related genes	Relation type
MARK3	TF binding region
ENSG00000075413	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540958455	chr14:103934039-103934040	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs191764899	chr14:103934042-103934043	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs529390535	chr14:103934100-103934101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150051786	chr14:103934102-103934103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145417899	chr14:103934157-103934158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577670193	chr14:103934177-103934178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545916277	chr14:103934210-103934211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562610876	chr14:103934244-103934245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542112474	chr14:103934245-103934246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141306428	chr14:103934257-103934258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185457688	chr14:103934261-103934262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548519785	chr14:103934273-103934274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74521165	chr14:103934289-103934290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188223234	chr14:103934305-103934306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373697755	chr14:103934322-103934323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368170565	chr14:103934389-103934390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371473873	chr14:103934407-103934408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201880493	chr14:103934427-103934428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547755558	chr14:103934444-103934445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368291904	chr14:103934458-103934459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372379690	chr14:103934465-103934466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571082736	chr14:103934468-103934469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116462326	chr14:103934484-103934485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10137161	chr14:103934488-103934489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200501056	chr14:103934493-103934494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199679958	chr14:103934508-103934509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201141415	chr14:103934529-103934530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369229138	chr14:103934564-103934565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12892283	chr14:103934633-103934634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571932036	chr14:103934639-103934640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34295660	chr14:103934652-103934653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12892292	chr14:103934654-103934655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11627919	chr14:103934725-103934726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557604225	chr14:103934740-103934741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144856370	chr14:103934756-103934757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201158685	chr14:103934765-103934766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573797396	chr14:103934773-103934774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562647883	chr14:103934778-103934779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55774087	chr14:103934780-103934781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542389681	chr14:103934792-103934793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576530165	chr14:103934892-103934893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541946489	chr14:103934899-103934900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562145261	chr14:103934905-103934906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193259244	chr14:103934927-103934928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147900310	chr14:103934928-103934929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111938498	chr14:103934929-103934930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559255104	chr14:103934953-103934954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564734175	chr14:103935084-103935085	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372468049	chr14:103935126-103935127	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569458126	chr14:103935127-103935128	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Cancer	20164920	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
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Cancer	17160897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:103899200-103934400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:103912200-103942200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:103918600-103941400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:103922400-103939200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:103922400-103955000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:103922800-103940800	Weak transcription	Fetal Heart	heart
8	chr14:103923000-103935800	Weak transcription	Psoas Muscle	Psoas
9	chr14:103923000-103941600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:103923000-103949400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:103923200-103938200	Strong transcription	NHEK	skin
12	chr14:103923200-103976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:103923600-103967000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:103923800-103938400	Strong transcription	Liver	Liver
15	chr14:103923800-103941400	Weak transcription	Small Intestine	intestine
16	chr14:103924000-103957400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:103924400-103937200	Weak transcription	Stomach Mucosa	stomach
18	chr14:103925600-103958400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr14:103926200-103950400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:103926600-103938400	Strong transcription	HMEC	breast
21	chr14:103926800-103963400	Strong transcription	Fetal Intestine Large	intestine
22	chr14:103927200-103938400	Strong transcription	Dnd41	blood
23	chr14:103927200-103942400	Weak transcription	Fetal Brain Male	brain
24	chr14:103927400-103944200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr14:103927400-103944800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:103927600-103938400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:103927600-103938400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:103927600-103944000	Strong transcription	Fetal Thymus	thymus
29	chr14:103927600-103946600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:103927800-103937000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:103927800-103938000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:103927800-103938000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:103927800-103938000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr14:103927800-103938000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr14:103927800-103938200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:103927800-103938400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:103927800-103939600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr14:103927800-103944400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:103927800-103945400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr14:103927800-103946000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr14:103927800-103946400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:103927800-103946600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr14:103927800-103949200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:103927800-103951000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr14:103927800-103951600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:103927800-103979800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:103928000-103938000	Strong transcription	Osteobl	bone
48	chr14:103928000-103938200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr14:103928000-103938200	Strong transcription	Thymus	Thymus
50	chr14:103928000-103946600	Strong transcription	Primary T cells from cord blood	blood

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