Variant report

Variant	nsv522876
Chromosome Location	chr7:70050442-70071979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:70069205..70071813-chr7:70077445..70079383,2	K562	blood:
2	chr7:70049785..70050737-chr7:70162923..70163511,2	MCF-7	breast:
3	chr7:70035377..70037187-chr7:70048714..70051712,2	MCF-7	breast:
4	chr7:70048823..70050343-chr7:70052305..70054085,2	K562	blood:

Extended variants
information (count: 840 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:840 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2079337	chr7:70050442-70050443	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529598607	chr7:70050477-70050478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189175387	chr7:70050485-70050486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542795005	chr7:70050540-70050541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs38324	chr7:70050621-70050622	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs528926001	chr7:70050691-70050692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180860960	chr7:70050811-70050812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568795340	chr7:70050823-70050824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10578060	chr7:70050831-70050832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200150068	chr7:70050846-70050847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61699349	chr7:70050850-70050851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs57638805	chr7:70050852-70050853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150877927	chr7:70050854-70050855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60045684	chr7:70050856-70050857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376483638	chr7:70050858-70050859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201224219	chr7:70050862-70050863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2866716	chr7:70050866-70050867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184312389	chr7:70050875-70050876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558649737	chr7:70050887-70050888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534117899	chr7:70050909-70050910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555581452	chr7:70050922-70050923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567492605	chr7:70050941-70050942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538309900	chr7:70050942-70050943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs38323	chr7:70050961-70050962	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs6976660	chr7:70050972-70050973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144752872	chr7:70051008-70051009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554170027	chr7:70051068-70051069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572380787	chr7:70051079-70051080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546159442	chr7:70051094-70051095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12535083	chr7:70051102-70051103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73445466	chr7:70051171-70051172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35843544	chr7:70051213-70051214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561110584	chr7:70051219-70051220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112611728	chr7:70051233-70051234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112574613	chr7:70051245-70051246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117829334	chr7:70051274-70051275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188623490	chr7:70051305-70051306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181695614	chr7:70051408-70051409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2067150	chr7:70051412-70051413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376805931	chr7:70051413-70051414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371376829	chr7:70051424-70051425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563966034	chr7:70051448-70051449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141840483	chr7:70051498-70051499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560122568	chr7:70051528-70051529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527556534	chr7:70051529-70051530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186867193	chr7:70051549-70051550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567430723	chr7:70051573-70051574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374162600	chr7:70051574-70051575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs38322	chr7:70051633-70051634	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs549986227	chr7:70051694-70051695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:631 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70036800-70060800	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:70038600-70059600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr7:70039800-70060600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:70045200-70051600	Weak transcription	HSMMtube	muscle
5	chr7:70045400-70051400	Weak transcription	HSMM	muscle
6	chr7:70045400-70060800	Weak transcription	Gastric	stomach
7	chr7:70046400-70050800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:70046600-70050800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:70047000-70050800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:70047000-70053000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:70047200-70050600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:70047200-70050600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:70047200-70050600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:70047200-70050800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:70047200-70050800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:70047400-70050600	Enhancers	Fetal Intestine Small	intestine
17	chr7:70047800-70053800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:70048400-70050600	Enhancers	Duodenum Mucosa	Duodenum
19	chr7:70048400-70060200	Enhancers	Liver	Liver
20	chr7:70048600-70054200	Weak transcription	Ovary	ovary
21	chr7:70048800-70050600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:70049400-70050600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:70049600-70050600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr7:70049800-70051400	Weak transcription	Placenta	Placenta
25	chr7:70049800-70051600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:70050000-70052200	Weak transcription	Stomach Mucosa	stomach
27	chr7:70050000-70053200	Weak transcription	Small Intestine	intestine
28	chr7:70050200-70051400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:70050200-70051600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:70050200-70051800	Weak transcription	Fetal Intestine Large	intestine
31	chr7:70050200-70052600	Weak transcription	Fetal Brain Female	brain
32	chr7:70050400-70050600	Enhancers	Fetal Kidney	kidney
33	chr7:70050400-70051200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:70050400-70051400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:70050400-70051400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:70050400-70051400	Weak transcription	Fetal Brain Male	brain
37	chr7:70050400-70051600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:70050400-70051600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:70050400-70051600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr7:70050600-70051600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:70050600-70051600	Weak transcription	Fetal Intestine Small	intestine
42	chr7:70050600-70051600	Weak transcription	Fetal Kidney	kidney
43	chr7:70050600-70052200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr7:70050600-70052800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:70050600-70053200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr7:70050600-70053200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:70050600-70055200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:70050800-70051200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:70050800-70051800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:70050800-70052200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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