Variant report

Variant	nsv1034817
Chromosome Location	chr7:69507871-69578892
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:69507259..69508393-chr7:70162935..70163782,5	MCF-7	breast:
2	chr7:69507240..69508178-chr7:69626181..69627189,3	MCF-7	breast:
3	chr7:69507502..69508119-chr7:69626360..69626921,2	MCF-7	breast:
4	chr7:69396739..69397519-chr7:69507195..69508169,2	MCF-7	breast:
5	chr7:69560759..69562378-chr7:69565105..69567328,2	MCF-7	breast:
6	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:
7	chr7:69567637..69569210-chr7:69569359..69572320,2	K562	blood:
8	chr7:69560759..69562378-chr7:69565105..69567328,2	MCF-7	breast:
9	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:
10	chr7:69567637..69569210-chr7:69569359..69572320,2	K562	blood:

No data

Extended variants
information (count: 2340 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2340 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540467755	chr7:69507923-69507924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562264982	chr7:69507940-69507941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574164991	chr7:69507978-69507979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71978854	chr7:69508004-69508005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368354973	chr7:69508015-69508016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112354088	chr7:69508016-69508017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563199544	chr7:69508103-69508104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189189969	chr7:69508178-69508179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372503755	chr7:69508211-69508212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552240433	chr7:69508295-69508296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564019816	chr7:69508343-69508344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180917224	chr7:69508380-69508381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546387073	chr7:69508452-69508453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370492790	chr7:69508458-69508459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531175974	chr7:69508472-69508473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186054312	chr7:69508484-69508485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550437950	chr7:69508491-69508492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs71549342	chr7:69508558-69508559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549483525	chr7:69508574-69508575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570961466	chr7:69508575-69508576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71068010	chr7:69508578-69508579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555125384	chr7:69508589-69508590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145176768	chr7:69508590-69508591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539440132	chr7:69508603-69508604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557777772	chr7:69508607-69508608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573162043	chr7:69508645-69508646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538867186	chr7:69508648-69508649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534261219	chr7:69508652-69508653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555597088	chr7:69508684-69508685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574151458	chr7:69508687-69508688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375306150	chr7:69508691-69508692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556885500	chr7:69508699-69508700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4598141	chr7:69508714-69508715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143528988	chr7:69508719-69508720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545715965	chr7:69508745-69508746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375126725	chr7:69508753-69508754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35222730	chr7:69508758-69508759	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs370468097	chr7:69508875-69508876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146748228	chr7:69508880-69508881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190963555	chr7:69508890-69508891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57000704	chr7:69508940-69508941	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183162093	chr7:69508944-69508945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533013100	chr7:69508955-69508956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551398647	chr7:69508957-69508958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559340729	chr7:69508991-69508992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186321546	chr7:69508998-69508999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533962899	chr7:69509105-69509106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80035817	chr7:69509146-69509147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111299244	chr7:69509151-69509152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6974687	chr7:69509185-69509186	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:707 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69493400-69508000	Weak transcription	Fetal Brain Male	brain
2	chr7:69496400-69509600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:69504800-69508400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:69505000-69508600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:69505400-69509400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:69505600-69510000	Enhancers	Fetal Intestine Small	intestine
7	chr7:69505600-69510200	Enhancers	Fetal Intestine Large	intestine
8	chr7:69505800-69508600	Weak transcription	Left Ventricle	heart
9	chr7:69505800-69513200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:69506000-69509200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:69506200-69512400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:69507000-69508200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:69507000-69508400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:69507200-69508400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:69507200-69512800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:69507400-69508000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:69507400-69508000	Enhancers	Colon Smooth Muscle	Colon
18	chr7:69507400-69508000	Enhancers	HSMM	muscle
19	chr7:69507400-69508400	Enhancers	Fetal Lung	lung
20	chr7:69507400-69510200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:69507600-69508000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:69507600-69508000	Enhancers	Brain Hippocampus Middle	brain
23	chr7:69507600-69508000	Enhancers	Fetal Brain Female	brain
24	chr7:69507600-69508000	Enhancers	Fetal Kidney	kidney
25	chr7:69507600-69508000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr7:69507600-69508000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr7:69507600-69508000	Enhancers	HSMMtube	muscle
28	chr7:69507600-69508000	Enhancers	NH-A	brain
29	chr7:69507600-69508000	Enhancers	NHDF-Ad	bronchial
30	chr7:69507600-69508000	Enhancers	Osteobl	bone
31	chr7:69507600-69508400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:69507600-69508400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr7:69507600-69509000	Enhancers	Fetal Heart	heart
34	chr7:69507600-69509200	Enhancers	Adipose Nuclei	Adipose
35	chr7:69507600-69509200	Enhancers	Fetal Muscle Leg	muscle
36	chr7:69507600-69509200	Enhancers	Small Intestine	intestine
37	chr7:69507600-69509400	Enhancers	Fetal Stomach	stomach
38	chr7:69507800-69508800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:69507800-69508800	Weak transcription	Right Atrium	heart
40	chr7:69508000-69508600	Enhancers	Fetal Brain Male	brain
41	chr7:69508000-69508800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr7:69508000-69509000	Weak transcription	Colon Smooth Muscle	Colon
43	chr7:69508000-69509200	Weak transcription	Fetal Kidney	kidney
44	chr7:69508000-69513000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:69508200-69509000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:69508400-69512400	Weak transcription	Fetal Lung	lung
47	chr7:69508400-69513000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:69508800-69509000	Enhancers	Duodenum Mucosa	Duodenum
49	chr7:69508800-69509000	Enhancers	Rectal Smooth Muscle	rectum
50	chr7:69508800-69509200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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