Variant report

Variant	nsv827078
Chromosome Location	chr14:105350248-105351006
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105347470..105350764-chr14:105354861..105357572,3	MCF-7	breast:
2	chr14:105348429..105351330-chr14:105352853..105355749,4	MCF-7	breast:
3	chr14:105350985..105352976-chr14:105358068..105360801,2	K562	blood:
4	chr14:105349366..105351471-chr14:105398354..105401032,2	MCF-7	breast:
5	chr14:105348765..105350400-chr14:105351876..105353640,2	MCF-7	breast:
6	chr14:105343975..105346931-chr14:105350690..105354607,3	K562	blood:
7	chr14:105348832..105350459-chr14:105350760..105352328,2	K562	blood:
8	chr14:105330091..105337184-chr14:105346220..105351503,12	MCF-7	breast:
9	chr14:105347472..105352873-chr14:105360965..105365202,8	MCF-7	breast:
10	chr14:105348832..105350459-chr14:105350760..105352328,2	K562	blood:
11	chr14:105329866..105333084-chr14:105347618..105350775,5	MCF-7	breast:
12	chr14:105349215..105352197-chr14:105846638..105849114,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000099814	chromatin interactions
ENSG00000179364	chromatin interactions
ENSG00000166428	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375604191	chr14:105350257-105350258	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs376478179	chr14:105350270-105350271	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs546867082	chr14:105350274-105350275	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs370915641	chr14:105350291-105350292	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs201167874	chr14:105350323-105350324	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs373744807	chr14:105350334-105350335	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs538814557	chr14:105350344-105350345	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs2841236	chr14:105350355-105350356	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs372246157	chr14:105350368-105350369	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs200188010	chr14:105350369-105350370	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs537857490	chr14:105350379-105350380	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs554565193	chr14:105350393-105350394	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs373943144	chr14:105350397-105350398	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs368618168	chr14:105350398-105350399	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs202028986	chr14:105350404-105350405	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs201713998	chr14:105350412-105350413	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs377006406	chr14:105350413-105350414	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs573383969	chr14:105350430-105350431	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs143836703	chr14:105350439-105350440	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs568196034	chr14:105350475-105350476	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs9788592	chr14:105350480-105350481	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs372568174	chr14:105350484-105350485	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs376693361	chr14:105350485-105350486	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs550561242	chr14:105350492-105350493	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs368962009	chr14:105350508-105350509	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs367897923	chr14:105350509-105350510	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs560991102	chr14:105350514-105350515	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs373443985	chr14:105350539-105350540	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs367947710	chr14:105350555-105350556	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs369365096	chr14:105350560-105350561	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs370195295	chr14:105350586-105350587	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs546614335	chr14:105350593-105350594	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs564371749	chr14:105350655-105350656	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs2582554	chr14:105350659-105350660	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs112723134	chr14:105350661-105350662	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs538480548	chr14:105350688-105350689	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs376115742	chr14:105350747-105350748	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs568983781	chr14:105350748-105350749	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs537894408	chr14:105350763-105350764	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs9788593	chr14:105350799-105350800	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs200049698	chr14:105350815-105350816	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs200830412	chr14:105350844-105350845	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs201146556	chr14:105350852-105350853	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs553410536	chr14:105350853-105350854	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs9788594	chr14:105350868-105350869	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs368118011	chr14:105350880-105350881	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs367826426	chr14:105350881-105350882	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs545203844	chr14:105350899-105350900	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs371961088	chr14:105350913-105350914	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs117866982	chr14:105350916-105350917	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
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
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105334200-105351600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:105339400-105356400	Strong transcription	Fetal Intestine Small	intestine
3	chr14:105339600-105353400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr14:105339600-105363000	Weak transcription	NH-A	brain
5	chr14:105340000-105353200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:105340000-105357200	Weak transcription	NHDF-Ad	bronchial
7	chr14:105340000-105363600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr14:105341200-105350400	Strong transcription	NHLF	lung
9	chr14:105342800-105356000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:105342800-105356200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:105343000-105356000	Strong transcription	Fetal Intestine Large	intestine
12	chr14:105343000-105356200	Strong transcription	Fetal Brain Female	brain
13	chr14:105343200-105351800	Weak transcription	Hela-S3	cervix
14	chr14:105343400-105350600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr14:105343400-105355600	Strong transcription	Colonic Mucosa	Colon
16	chr14:105343600-105350600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:105343600-105350600	Strong transcription	Stomach Smooth Muscle	stomach
18	chr14:105343600-105356200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:105343800-105356200	Strong transcription	Lung	lung
20	chr14:105344200-105356000	Strong transcription	Pancreas	Pancrea
21	chr14:105344400-105350400	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr14:105345000-105353200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:105346600-105356000	Strong transcription	Ovary	ovary
24	chr14:105347200-105351000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr14:105347200-105351800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:105347400-105351600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:105347400-105351800	Weak transcription	Brain Angular Gyrus	brain
28	chr14:105347400-105352200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr14:105347400-105352200	Weak transcription	Fetal Lung	lung
30	chr14:105347400-105362400	Weak transcription	HepG2	liver
31	chr14:105347600-105353400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:105347800-105353600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:105348000-105355800	Strong transcription	Brain Germinal Matrix	brain
34	chr14:105348000-105362600	Weak transcription	Brain Substantia Nigra	brain
35	chr14:105348200-105356200	Strong transcription	Fetal Stomach	stomach
36	chr14:105348400-105356000	Strong transcription	Aorta	Aorta
37	chr14:105348800-105350400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:105348800-105358600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr14:105349000-105350400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr14:105349000-105350600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:105349000-105350600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:105349000-105350600	Strong transcription	Liver	Liver
43	chr14:105349000-105350600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:105349000-105356000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:105349000-105356000	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr14:105349200-105350600	Strong transcription	Small Intestine	intestine
47	chr14:105349200-105350800	Strong transcription	Brain Cingulate Gyrus	brain
48	chr14:105349200-105350800	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr14:105349200-105350800	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:105349200-105352200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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