Variant report

Variant	nsv888342
Chromosome Location	chr7:70458309-70532193
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:70462545..70464219-chr7:70469088..70471612,2	K562	blood:
2	chr7:70472764..70475068-chr7:70478258..70480877,2	K562	blood:
3	chr7:70462545..70464219-chr7:70469088..70471612,2	K562	blood:
4	chr7:70472764..70475068-chr7:70478258..70480877,2	K562	blood:
5	chr7:70462461..70464194-chr7:70473424..70476009,2	K562	blood:
6	chr7:70462461..70464194-chr7:70473424..70476009,2	K562	blood:

Extended variants
information (count: 2009 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2009 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6460611	chr7:70458309-70458310	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554684455	chr7:70458346-70458347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111436367	chr7:70458372-70458373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576142423	chr7:70458395-70458396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193166980	chr7:70458461-70458462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375742554	chr7:70458469-70458470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183410446	chr7:70458472-70458473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540874706	chr7:70458504-70458505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115053945	chr7:70458512-70458513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148597062	chr7:70458515-70458516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116795490	chr7:70458521-70458522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377326404	chr7:70458541-70458542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569797866	chr7:70458597-70458598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530826171	chr7:70458616-70458617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189157235	chr7:70458644-70458645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571067195	chr7:70458674-70458675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4719049	chr7:70458687-70458688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531313907	chr7:70458738-70458739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201229195	chr7:70458743-70458744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142968550	chr7:70458776-70458777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184768394	chr7:70458824-70458825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150674907	chr7:70458878-70458879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554723225	chr7:70458905-70458906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188365594	chr7:70458906-70458907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139906451	chr7:70458943-70458944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144786974	chr7:70458982-70458983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545086211	chr7:70459031-70459032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564770542	chr7:70459034-70459035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545851781	chr7:70459083-70459084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558484833	chr7:70459098-70459099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576751037	chr7:70459109-70459110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541361863	chr7:70459111-70459112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559199355	chr7:70459128-70459129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6460612	chr7:70459134-70459135	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541590218	chr7:70459146-70459147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563463330	chr7:70459154-70459155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74642024	chr7:70459176-70459177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191236474	chr7:70459187-70459188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112900748	chr7:70459204-70459205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552381622	chr7:70459249-70459250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570872695	chr7:70459258-70459259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147905296	chr7:70459293-70459294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141596936	chr7:70459295-70459296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567981698	chr7:70459300-70459301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543645860	chr7:70459340-70459341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79807912	chr7:70459345-70459346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568738420	chr7:70459421-70459422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184919032	chr7:70459498-70459499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551152121	chr7:70459522-70459523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145390045	chr7:70459539-70459540	Enhancers	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
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70454200-70459200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:70458200-70458400	Enhancers	H9 Cell Line	embryonic stem cell
3	chr7:70458200-70458400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:70458400-70459200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:70459000-70459600	Enhancers	Fetal Stomach	stomach
6	chr7:70459200-70459400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:70459200-70459400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:70459600-70461200	Weak transcription	Fetal Stomach	stomach
9	chr7:70461200-70462000	Enhancers	Fetal Stomach	stomach
10	chr7:70461600-70461800	Enhancers	Fetal Muscle Trunk	muscle
11	chr7:70461600-70462000	Enhancers	Fetal Muscle Leg	muscle
12	chr7:70461600-70463400	Enhancers	Fetal Lung	lung
13	chr7:70461800-70462400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:70462000-70463000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:70462000-70463000	Weak transcription	Fetal Stomach	stomach
16	chr7:70462000-70463200	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:70462400-70462600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:70462600-70462800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:70462600-70462800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:70463000-70463400	Enhancers	Fetal Muscle Trunk	muscle
21	chr7:70463000-70463400	Enhancers	Fetal Stomach	stomach
22	chr7:70463200-70463400	Enhancers	Fetal Muscle Leg	muscle
23	chr7:70472000-70472200	Enhancers	Fetal Stomach	stomach
24	chr7:70472200-70474400	Weak transcription	Fetal Stomach	stomach
25	chr7:70474000-70474400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:70474400-70475200	Enhancers	Fetal Stomach	stomach
27	chr7:70475200-70480400	Weak transcription	Fetal Stomach	stomach
28	chr7:70477400-70477600	Enhancers	Fetal Muscle Trunk	muscle
29	chr7:70478200-70479000	Enhancers	Fetal Brain Male	brain
30	chr7:70479400-70479600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:70479400-70480000	Enhancers	Fetal Muscle Trunk	muscle
32	chr7:70479600-70482600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:70480000-70480400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr7:70480200-70480600	Active TSS	Stomach Smooth Muscle	stomach
35	chr7:70480200-70481000	Enhancers	Fetal Lung	lung
36	chr7:70480200-70481600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:70480200-70481600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:70480200-70481800	Enhancers	Adipose Nuclei	Adipose
39	chr7:70480200-70482000	Enhancers	Fetal Muscle Leg	muscle
40	chr7:70480400-70481800	Enhancers	Fetal Stomach	stomach
41	chr7:70480400-70487200	Enhancers	Fetal Muscle Trunk	muscle
42	chr7:70480600-70484400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:70481000-70484200	Weak transcription	Fetal Lung	lung
44	chr7:70481600-70484400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:70481600-70484400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:70481800-70483200	Weak transcription	Fetal Stomach	stomach
47	chr7:70481800-70484400	Weak transcription	Adipose Nuclei	Adipose
48	chr7:70482000-70483400	Weak transcription	Fetal Muscle Leg	muscle
49	chr7:70482600-70483800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:70483200-70486600	Enhancers	Fetal Stomach	stomach

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