Variant report

Variant	nsv528359
Chromosome Location	chr14:69788903-69790389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69789314..69792298-chr14:69861452..69863728,2	K562	blood:
2	chr14:69782256..69784527-chr14:69788107..69790560,2	MCF-7	breast:
3	chr14:69780441..69783406-chr14:69787720..69789351,2	MCF-7	breast:
4	chr14:69778011..69779803-chr14:69786637..69789444,2	K562	blood:

Variant related genes	Relation type
ENSG00000100632	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1016692	chr14:69788903-69788904	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115195508	chr14:69788915-69788916	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550455063	chr14:69788917-69788918	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569140054	chr14:69788926-69788927	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2124190	chr14:69788929-69788930	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1147469	chr14:69788930-69788931	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs374235581	chr14:69789045-69789046	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533911603	chr14:69789058-69789059	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558701778	chr14:69789059-69789060	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368784459	chr14:69789106-69789107	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149494994	chr14:69789107-69789108	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556441186	chr14:69789110-69789111	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189252543	chr14:69789116-69789117	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376553801	chr14:69789136-69789137	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560148509	chr14:69789167-69789168	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572122397	chr14:69789171-69789172	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545762055	chr14:69789176-69789177	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564242077	chr14:69789182-69789183	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192158208	chr14:69789189-69789190	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550794663	chr14:69789214-69789215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74059952	chr14:69789244-69789245	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs4349082	chr14:69789252-69789253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74059955	chr14:69789275-69789276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs566740109	chr14:69789287-69789288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527305964	chr14:69789294-69789295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552156594	chr14:69789301-69789302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570537696	chr14:69789336-69789337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs147188785	chr14:69789367-69789368	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs138857222	chr14:69789416-69789417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs568544874	chr14:69789425-69789426	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372758328	chr14:69789500-69789501	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs183658473	chr14:69789501-69789502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs142817610	chr14:69789502-69789503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs188426262	chr14:69789524-69789525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs181101352	chr14:69789537-69789538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs1303451	chr14:69789570-69789571	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs370543460	chr14:69789571-69789572	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs1303450	chr14:69789598-69789599	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs147422965	chr14:69789603-69789604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200098319	chr14:69789639-69789640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527595577	chr14:69789640-69789641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1314961	chr14:69789642-69789643	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs370040153	chr14:69789644-69789645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs71102644	chr14:69789694-69789695	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs369460361	chr14:69789698-69789699	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs143885718	chr14:69789700-69789701	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201276114	chr14:69789701-69789702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2877538	chr14:69789702-69789703	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs3045621	chr14:69789704-69789705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200277636	chr14:69789707-69789708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69780200-69792600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:69780400-69792600	Weak transcription	Brain Angular Gyrus	brain
3	chr14:69781600-69794800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:69782400-69790200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:69782400-69790400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:69784200-69790000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:69784200-69791200	Weak transcription	Fetal Intestine Small	intestine
8	chr14:69784200-69800200	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:69784400-69792000	Weak transcription	Fetal Brain Female	brain
10	chr14:69784400-69801600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:69784800-69794000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:69785000-69790200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr14:69785000-69792600	Weak transcription	Brain Anterior Caudate	brain
14	chr14:69785400-69789800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr14:69785400-69790000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:69785400-69790200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:69785400-69790600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:69785600-69790200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:69786000-69791400	Weak transcription	Right Ventricle	heart
20	chr14:69786000-69791800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:69786000-69792000	Weak transcription	Brain Germinal Matrix	brain
22	chr14:69786400-69791400	Weak transcription	Fetal Intestine Large	intestine
23	chr14:69787800-69790800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:69788000-69789000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:69788000-69789000	Enhancers	Adipose Nuclei	Adipose
26	chr14:69788200-69789000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:69788200-69789200	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr14:69788200-69789400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr14:69788400-69789000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:69788400-69790000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:69788600-69792800	Weak transcription	Left Ventricle	heart
32	chr14:69788800-69789800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:69788800-69790400	Weak transcription	Fetal Muscle Leg	muscle
34	chr14:69788800-69792600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:69788800-69792600	Weak transcription	Spleen	Spleen
36	chr14:69788800-69810400	Weak transcription	NHDF-Ad	bronchial
37	chr14:69789000-69791400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:69789000-69791400	Weak transcription	Fetal Stomach	stomach
39	chr14:69789000-69797800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:69789200-69790600	Enhancers	Fetal Muscle Trunk	muscle
41	chr14:69789400-69792600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:69789600-69791800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr14:69789800-69791000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr14:69789800-69791200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:69790000-69790200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:69790000-69790600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:69790000-69791000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr14:69790000-69791000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr14:69790000-69791200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:69790000-69792200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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