Variant report

Variant	nsv1030911
Chromosome Location	chr7:69675761-69721623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:69701411..69704010-chr7:69707383..69709265,2	K562	blood:
2	chr7:69679433..69681013-chr7:69692321..69694747,2	K562	blood:
3	chr7:69701411..69704010-chr7:69707383..69709265,2	K562	blood:
4	chr7:69681271..69684117-chr7:69686002..69687637,2	K562	blood:
5	chr7:69681271..69684117-chr7:69686002..69687637,2	K562	blood:
6	chr7:69679433..69681013-chr7:69692321..69694747,2	K562	blood:
7	chr7:69716066..69717920-chr7:69722887..69724977,2	K562	blood:

Extended variants
information (count: 1483 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1483 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182796712	chr7:69675779-69675780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560845608	chr7:69675803-69675804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368701272	chr7:69675809-69675810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558861585	chr7:69675828-69675829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139430103	chr7:69675839-69675840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550632157	chr7:69675876-69675877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535518901	chr7:69675885-69675886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568888855	chr7:69675897-69675898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150060189	chr7:69675931-69675932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574611473	chr7:69675967-69675968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542271823	chr7:69675973-69675974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576071540	chr7:69676085-69676086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563613163	chr7:69676206-69676207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531161781	chr7:69676221-69676222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546076986	chr7:69676268-69676269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188706362	chr7:69676284-69676285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191946769	chr7:69676293-69676294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375023449	chr7:69676318-69676319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534436419	chr7:69676319-69676320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78504084	chr7:69676320-69676321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201218264	chr7:69676333-69676334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200521617	chr7:69676334-69676335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35187880	chr7:69676335-69676336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201612192	chr7:69676339-69676340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539392243	chr7:69676357-69676358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565646596	chr7:69676365-69676366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184778769	chr7:69676418-69676419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572117235	chr7:69676463-69676464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548296082	chr7:69676552-69676553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541014807	chr7:69676583-69676584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561454202	chr7:69676590-69676591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569649202	chr7:69676701-69676702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575053723	chr7:69676731-69676732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537293677	chr7:69676739-69676740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558293336	chr7:69676743-69676744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570419725	chr7:69676755-69676756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534573518	chr7:69676829-69676830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376466044	chr7:69676862-69676863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187872039	chr7:69676864-69676865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146614413	chr7:69676878-69676879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34856949	chr7:69676887-69676888	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs557477101	chr7:69676938-69676939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575641362	chr7:69676951-69676952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547505148	chr7:69677013-69677014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546387810	chr7:69677063-69677064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79750166	chr7:69677068-69677069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532475524	chr7:69677391-69677392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573594395	chr7:69677440-69677441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540961351	chr7:69677441-69677442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369164272	chr7:69677536-69677537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Attention deficit hyperactivity disorder	19546859	CNVD
Autism	19246517	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69655000-69692400	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69671400-69676600	Weak transcription	Ovary	ovary
3	chr7:69672600-69676000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:69673200-69676200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:69673400-69676200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:69674000-69678400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:69674200-69678800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:69674400-69675800	Enhancers	Brain Germinal Matrix	brain
9	chr7:69674600-69679800	Enhancers	Fetal Brain Male	brain
10	chr7:69674800-69676000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:69674800-69676000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:69675000-69676400	Enhancers	Fetal Brain Female	brain
13	chr7:69675200-69675800	Enhancers	Fetal Lung	lung
14	chr7:69675200-69676000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:69675200-69676000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:69675200-69676000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:69675200-69676200	Enhancers	Fetal Kidney	kidney
18	chr7:69675400-69676200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr7:69675600-69675800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:69675600-69676000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr7:69675600-69676200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:69675600-69676200	Enhancers	Psoas Muscle	Psoas
23	chr7:69675800-69676000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:69675800-69676200	Enhancers	Fetal Muscle Leg	muscle
25	chr7:69675800-69679200	Weak transcription	Fetal Lung	lung
26	chr7:69676000-69681400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:69676000-69682600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:69676200-69676600	Weak transcription	Fetal Kidney	kidney
29	chr7:69676200-69677200	Weak transcription	Psoas Muscle	Psoas
30	chr7:69676200-69695600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:69676400-69676800	Weak transcription	Fetal Brain Female	brain
32	chr7:69676600-69677400	Enhancers	Ovary	ovary
33	chr7:69676800-69677800	Enhancers	Fetal Brain Female	brain
34	chr7:69677800-69683000	Weak transcription	Fetal Brain Female	brain
35	chr7:69678400-69679800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:69678600-69679200	Enhancers	Dnd41	blood
37	chr7:69678800-69681200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:69679000-69681000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:69679200-69679600	Enhancers	Fetal Lung	lung
40	chr7:69679800-69680400	Weak transcription	Fetal Brain Male	brain
41	chr7:69680000-69680800	Enhancers	Adipose Nuclei	Adipose
42	chr7:69680000-69680800	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr7:69680000-69681200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:69680000-69681200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr7:69680000-69681200	Enhancers	Osteobl	bone
46	chr7:69680000-69681400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:69680400-69680600	Enhancers	Fetal Brain Male	brain
48	chr7:69680600-69680800	Enhancers	NH-A	brain
49	chr7:69680600-69681400	Enhancers	NHDF-Ad	bronchial
50	chr7:69680600-69681800	Enhancers	NHEK	skin

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