Variant report

Variant	nsv981403
Chromosome Location	chr7:96934701-96946503
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:96933538..96936519-chr7:96938738..96941232,2	K562	blood:
2	chr7:96933538..96936519-chr7:96938738..96941232,2	K562	blood:

Extended variants
information (count: 275 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73392145	chr7:96935212-96935213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536788689	chr7:96935229-96935230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187595697	chr7:96935234-96935235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567278645	chr7:96935241-96935242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535889928	chr7:96935256-96935257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs41342645	chr7:96935261-96935262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs41474050	chr7:96935274-96935275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535177002	chr7:96935297-96935298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558437233	chr7:96935369-96935370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578138548	chr7:96935451-96935452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192544078	chr7:96935525-96935526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543968939	chr7:96935626-96935627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542106288	chr7:96935663-96935664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143306843	chr7:96935672-96935673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560743201	chr7:96935734-96935735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573953398	chr7:96935735-96935736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527744561	chr7:96935795-96935796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184842595	chr7:96935861-96935862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559561138	chr7:96935879-96935880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117665874	chr7:96935922-96935923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189305466	chr7:96936146-96936147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76536837	chr7:96936163-96936164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564769852	chr7:96936227-96936228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181634325	chr7:96936258-96936259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550231345	chr7:96936289-96936290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10248224	chr7:96936295-96936296	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs201396896	chr7:96936299-96936300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202083098	chr7:96936314-96936315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73711821	chr7:96936337-96936338	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546281157	chr7:96936402-96936403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184283592	chr7:96936440-96936441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73711823	chr7:96936450-96936451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2058668	chr7:96936491-96936492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578232213	chr7:96936552-96936553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190107175	chr7:96936568-96936569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181351971	chr7:96936662-96936663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140576782	chr7:96936698-96936699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542964838	chr7:96936711-96936712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535486155	chr7:96936751-96936752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531767986	chr7:96936770-96936771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2394621	chr7:96936777-96936778	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs74501244	chr7:96936824-96936825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376846920	chr7:96936825-96936826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116398847	chr7:96936827-96936828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544928812	chr7:96936853-96936854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10233208	chr7:96936901-96936902	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530584406	chr7:96936912-96936913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186325947	chr7:96936914-96936915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560992033	chr7:96936961-96936962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190828302	chr7:96936966-96936967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
abnormal development	18461090	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96935200-96935600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:96935600-96937400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:96936200-96937400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:96937400-96937600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:96942600-96943000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr7:96942800-96943000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:96943000-96943400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:96943000-96943400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:96943000-96943800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:96943200-96945600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:96943400-96943600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:96943400-96944000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:96943400-96944600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:96943600-96943800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr7:96943800-96947000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:96945600-96946000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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