Variant report

Variant	nsv1028975
Chromosome Location	chr7:69513266-69578892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:69567637..69569210-chr7:69569359..69572320,2	K562	blood:
2	chr7:69560759..69562378-chr7:69565105..69567328,2	MCF-7	breast:
3	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:
4	chr7:69567637..69569210-chr7:69569359..69572320,2	K562	blood:
5	chr7:69560759..69562378-chr7:69565105..69567328,2	MCF-7	breast:
6	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:

Extended variants
information (count: 2174 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2174 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577149705	chr7:69513289-69513290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139267434	chr7:69513320-69513321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559585981	chr7:69513330-69513331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144192935	chr7:69513349-69513350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541926816	chr7:69513475-69513476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563502734	chr7:69513500-69513501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531029286	chr7:69513515-69513516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554699985	chr7:69513516-69513517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571156816	chr7:69513530-69513531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532001819	chr7:69513638-69513639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146278877	chr7:69513672-69513673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570082525	chr7:69513678-69513679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181194421	chr7:69513714-69513715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551417124	chr7:69513743-69513744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548322255	chr7:69513843-69513844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186227642	chr7:69513859-69513860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190604578	chr7:69513860-69513861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533784973	chr7:69513956-69513957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs202136884	chr7:69513982-69513983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553446053	chr7:69513989-69513990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558560142	chr7:69514030-69514031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184090842	chr7:69514055-69514056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575270234	chr7:69514102-69514103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188863826	chr7:69514115-69514116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535950429	chr7:69514138-69514139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139384103	chr7:69514159-69514160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541890155	chr7:69514168-69514169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563467416	chr7:69514177-69514178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575416655	chr7:69514195-69514196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546416377	chr7:69514201-69514202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377036576	chr7:69514228-69514229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528736151	chr7:69514263-69514264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546988050	chr7:69514264-69514265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370976762	chr7:69514275-69514276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529736932	chr7:69514310-69514311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199928586	chr7:69514334-69514335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190814239	chr7:69514397-69514398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6963904	chr7:69514404-69514405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs182670187	chr7:69514425-69514426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552397656	chr7:69514434-69514435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10266802	chr7:69514525-69514526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534880576	chr7:69514585-69514586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559027437	chr7:69514631-69514632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80324097	chr7:69514840-69514841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574468244	chr7:69514841-69514842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572598408	chr7:69514851-69514852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73432193	chr7:69514859-69514860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576520394	chr7:69514862-69514863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373958310	chr7:69514897-69514898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4718915	chr7:69514961-69514962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:625 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69510400-69517400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:69512000-69513600	Enhancers	Fetal Intestine Small	intestine
3	chr7:69512200-69513800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr7:69512400-69513600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:69512400-69513800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr7:69512400-69513800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:69512400-69514200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:69512400-69514400	Enhancers	Fetal Lung	lung
9	chr7:69512600-69513400	Enhancers	Fetal Intestine Large	intestine
10	chr7:69512600-69513600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:69512600-69513800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:69512600-69525600	Weak transcription	Left Ventricle	heart
13	chr7:69512800-69513400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr7:69512800-69513400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr7:69512800-69513800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:69512800-69513800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:69513000-69513400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:69513000-69513400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:69513000-69513600	Enhancers	Fetal Stomach	stomach
20	chr7:69513200-69513400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:69513200-69513400	Enhancers	Fetal Heart	heart
22	chr7:69513400-69513600	Enhancers	Fetal Kidney	kidney
23	chr7:69513400-69516800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:69513400-69516800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:69513400-69517400	Weak transcription	Fetal Heart	heart
26	chr7:69513400-69517400	Weak transcription	Fetal Intestine Large	intestine
27	chr7:69513600-69516800	Weak transcription	Fetal Stomach	stomach
28	chr7:69513600-69517600	Weak transcription	Fetal Kidney	kidney
29	chr7:69513600-69521600	Weak transcription	Fetal Intestine Small	intestine
30	chr7:69513800-69517400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:69513800-69525800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:69514400-69517400	Weak transcription	Fetal Lung	lung
33	chr7:69516200-69520800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:69516600-69518600	Enhancers	HSMM	muscle
35	chr7:69516800-69518000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:69516800-69518000	Enhancers	Fetal Stomach	stomach
37	chr7:69516800-69518200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:69516800-69519000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:69517000-69518600	Enhancers	HSMMtube	muscle
40	chr7:69517200-69517600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:69517200-69518000	Enhancers	Adipose Nuclei	Adipose
42	chr7:69517200-69518000	Enhancers	Colon Smooth Muscle	Colon
43	chr7:69517200-69518400	Enhancers	Osteobl	bone
44	chr7:69517200-69519200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:69517400-69517800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr7:69517400-69517800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:69517400-69517800	Enhancers	Brain Anterior Caudate	brain
48	chr7:69517400-69517800	Enhancers	Fetal Muscle Leg	muscle
49	chr7:69517400-69517800	Enhancers	Psoas Muscle	Psoas
50	chr7:69517400-69517800	Enhancers	NHDF-Ad	bronchial

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