Variant report

Variant	nsv85551
Chromosome Location	chr14:103948122-103951588
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	CEBPB	chr14:103949976-103950483	IMR90	lung:	n/a	n/a
2	E2F4	chr14:103949927-103950230	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr14:103949953-103950350	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr14:103949900-103950398	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr14:103949904-103950391	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr14:103949906-103950297	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr14:103949985-103950325	HUVEC	blood vessel:	n/a	n/a
8	MYC	chr14:103949970-103950294	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr14:103949939-103950274	MCF10A-Er-Src	breast:	n/a	n/a
10	NFIC	chr14:103949796-103950439	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr14:103950038-103950283	SK-N-SH	brain:	n/a	n/a
12	STAT3	chr14:103949985-103950264	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr14:103949941-103950293	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr14:103949976-103950285	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr14:103949468-103949650	MCF10A-Er-Src	breast:	n/a	n/a
16	TCF12	chr14:103949842-103950500	SK-N-SH	brain:	n/a	chr14:103950112-103950120

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103951483..103953028-chr14:103997135..103999306,2	MCF-7	breast:
2	chr14:103948825..103951654-chr14:103995758..103998626,2	K562	blood:

Variant related genes	Relation type
MARK3	TF binding region

Extended variants
information (count: 137 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539570818	chr14:103948159-103948160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556584804	chr14:103948172-103948173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532158921	chr14:103948198-103948199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112281962	chr14:103948205-103948206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535802860	chr14:103948224-103948225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4900579	chr14:103948252-103948253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572819813	chr14:103948357-103948358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541698212	chr14:103948398-103948399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs55658071	chr14:103948399-103948400	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs578104174	chr14:103948425-103948426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543161612	chr14:103948468-103948469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74538036	chr14:103948476-103948477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559585438	chr14:103948501-103948502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138041191	chr14:103948504-103948505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182365808	chr14:103948510-103948511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12879973	chr14:103948531-103948532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12881168	chr14:103948532-103948533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548606577	chr14:103948545-103948546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60236703	chr14:103948594-103948595	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2403180	chr14:103948626-103948627	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs2403181	chr14:103948657-103948658	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs374697399	chr14:103948660-103948661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571367389	chr14:103948713-103948714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537210403	chr14:103948723-103948724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550011590	chr14:103948730-103948731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570211044	chr14:103948733-103948734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535943476	chr14:103948769-103948770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375279175	chr14:103948782-103948783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184391975	chr14:103948786-103948787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549834644	chr14:103948814-103948815	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189339283	chr14:103948815-103948816	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535031766	chr14:103948823-103948824	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75066681	chr14:103948838-103948839	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11313266	chr14:103948856-103948857	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578111299	chr14:103948947-103948948	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368471353	chr14:103949019-103949020	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72708897	chr14:103949022-103949023	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568218768	chr14:103949040-103949041	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372537223	chr14:103949087-103949088	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557119983	chr14:103949109-103949110	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141975159	chr14:103949175-103949176	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181244019	chr14:103949191-103949192	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185598497	chr14:103949209-103949210	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528054398	chr14:103949232-103949233	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190020339	chr14:103949260-103949261	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529956497	chr14:103949290-103949291	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116768144	chr14:103949350-103949351	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375090332	chr14:103949356-103949357	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3783398	chr14:103949378-103949379	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs376572768	chr14:103949381-103949382	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	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:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103922400-103955000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:103923000-103949400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:103923200-103976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:103923600-103967000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:103924000-103957400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:103925600-103958400	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:103926200-103950400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:103926800-103963400	Strong transcription	Fetal Intestine Large	intestine
9	chr14:103927800-103949200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:103927800-103951000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:103927800-103951600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:103927800-103979800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:103928600-103950800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr14:103930600-103951800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:103931600-103949400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:103931600-103955000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:103932000-103953800	Strong transcription	Fetal Muscle Leg	muscle
18	chr14:103938000-103949600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:103938000-103950200	Weak transcription	Stomach Mucosa	stomach
20	chr14:103939200-103949600	Strong transcription	Stomach Smooth Muscle	stomach
21	chr14:103939200-103950800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:103939200-103951000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:103939200-103951000	Strong transcription	Liver	Liver
24	chr14:103939200-103951000	Strong transcription	Placenta	Placenta
25	chr14:103939200-103966200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:103939400-103950400	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr14:103939400-103950800	Strong transcription	Dnd41	blood
28	chr14:103939400-103952200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr14:103939400-103956000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:103939600-103949800	Strong transcription	Osteobl	bone
31	chr14:103940200-103954800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:103940400-103950400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:103940400-103950800	Strong transcription	Adipose Nuclei	Adipose
34	chr14:103940400-103951000	Strong transcription	Brain Hippocampus Middle	brain
35	chr14:103941200-103949200	Strong transcription	NHEK	skin
36	chr14:103941400-103949200	Strong transcription	Fetal Brain Female	brain
37	chr14:103941600-103949800	Strong transcription	HUVEC	blood vessel
38	chr14:103941600-103953800	Weak transcription	Small Intestine	intestine
39	chr14:103942800-103956000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:103942800-103957200	Weak transcription	Brain Angular Gyrus	brain
41	chr14:103942800-103966400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr14:103943200-103969200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr14:103943400-103948600	Weak transcription	Aorta	Aorta
44	chr14:103943400-103949200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:103943400-103950000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:103943400-103953800	Weak transcription	Right Ventricle	heart
47	chr14:103943400-103954800	Weak transcription	Fetal Heart	heart
48	chr14:103943400-103958200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr14:103943600-103951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:103943600-103953800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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