Variant report

Variant	nsv902112
Chromosome Location	chr14:79939393-80050771
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:79962362..79964375-chr14:79965844..79968447,2	K562	blood:
2	chr14:80018191..80021124-chr14:80031002..80033246,2	K562	blood:
3	chr14:79879666..79880179-chr14:79981324..79981914,2	MCF-7	breast:
4	chr14:79946169..79946771-chr5:64323360..64323893,2	MCF-7	breast:
5	chr14:80018191..80021124-chr14:80031002..80033246,2	K562	blood:
6	chr14:79962362..79964375-chr14:79965844..79968447,2	K562	blood:
7	chr14:79879666..79880608-chr14:79981324..79981922,3	MCF-7	breast:
8	chr14:79952202..79952971-chr8:128747799..128748754,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000136997	chromatin interactions

Extended variants
information (count: 4090 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:4090 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8012110	chr14:79939393-79939394	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548372937	chr14:79939404-79939405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572066009	chr14:79939422-79939423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541417225	chr14:79939463-79939464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75933209	chr14:79939465-79939466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189723386	chr14:79939467-79939468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181201302	chr14:79939494-79939495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10145154	chr14:79939525-79939526	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534035894	chr14:79939536-79939537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185643483	chr14:79939558-79939559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148413322	chr14:79939581-79939582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549060190	chr14:79939615-79939616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs57307644	chr14:79939618-79939619	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs370087554	chr14:79939642-79939643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540652391	chr14:79939654-79939655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190497816	chr14:79939724-79939725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551349981	chr14:79939725-79939726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571192513	chr14:79939726-79939727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181636946	chr14:79939738-79939739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs80273350	chr14:79939769-79939770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373265180	chr14:79939812-79939813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187333294	chr14:79939813-79939814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570816153	chr14:79939856-79939857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565108567	chr14:79939943-79939944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116794425	chr14:79939975-79939976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17109256	chr14:79939993-79939994	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs373825111	chr14:79939995-79939996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116533395	chr14:79940012-79940013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142561256	chr14:79940027-79940028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377486705	chr14:79940033-79940034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543667296	chr14:79940040-79940041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150964940	chr14:79940069-79940070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192018273	chr14:79940076-79940077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs33924919	chr14:79940131-79940132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374180725	chr14:79940135-79940136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542841491	chr14:79940226-79940227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559629594	chr14:79940260-79940261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372153675	chr14:79940273-79940274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75161301	chr14:79940295-79940296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571197322	chr14:79940341-79940342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182706721	chr14:79940365-79940366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7144011	chr14:79940383-79940384	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs141339843	chr14:79940397-79940398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535791079	chr14:79940399-79940400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187605740	chr14:79940406-79940407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112887250	chr14:79940433-79940434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373133065	chr14:79940445-79940446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75515070	chr14:79940464-79940465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10143375	chr14:79940483-79940484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs146853614	chr14:79940559-79940560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	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
Malignant fibrous histiocytomas	21085701	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:698 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79927600-79944800	Weak transcription	Aorta	Aorta
2	chr14:79927800-79944000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr14:79931800-79942400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:79933600-79941800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:79933800-79939400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:79933800-79942400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:79934000-79939600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:79938600-79940400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:79938800-79939400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr14:79938800-79939800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr14:79938800-79940200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr14:79939000-79939400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:79939000-79939600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:79939000-79940200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr14:79939000-79940400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr14:79939400-79940400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:79939800-79940000	Enhancers	Stomach Smooth Muscle	stomach
18	chr14:79940200-79950000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:79940400-79942200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:79940400-79942400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:79941400-79942800	Enhancers	Fetal Lung	lung
22	chr14:79942200-79942800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:79942200-79943800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr14:79942400-79942600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:79942400-79942600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr14:79942400-79943800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr14:79942600-79943200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr14:79942800-79949200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:79944000-79944200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr14:79944000-79945000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:79944800-79945000	Enhancers	Aorta	Aorta
32	chr14:79945200-79945400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr14:79945400-79945600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:79946200-79946800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:79946800-79950000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:79948400-79949600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr14:79949000-79950400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr14:79949000-79950600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr14:79949000-79950600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:79949000-79950600	Enhancers	Brain Angular Gyrus	brain
41	chr14:79949200-79949400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:79949200-79950600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:79949200-79950800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:79949200-79951000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:79949200-79951000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr14:79949200-79951000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr14:79949200-79951200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr14:79949400-79949800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:79949600-79950400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr14:79949600-79950600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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