Variant report

Variant	nsv1019992
Chromosome Location	chr7:40443653-40479723
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1178 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1178 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142586843	chr7:40443703-40443704	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs181534106	chr7:40443747-40443748	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs143477374	chr7:40443753-40443754	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545703743	chr7:40443761-40443762	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565524184	chr7:40443808-40443809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111318311	chr7:40443816-40443817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539555871	chr7:40443852-40443853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368551433	chr7:40443854-40443855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143464945	chr7:40443882-40443883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370393520	chr7:40443968-40443969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567717719	chr7:40443998-40443999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75159183	chr7:40444015-40444016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376103221	chr7:40444031-40444032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77536139	chr7:40444054-40444055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80308896	chr7:40444055-40444056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547001571	chr7:40444057-40444058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566738896	chr7:40444079-40444080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551415947	chr7:40444099-40444100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370121385	chr7:40444105-40444106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185287439	chr7:40444106-40444107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374374320	chr7:40444110-40444111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368522538	chr7:40444129-40444130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568714814	chr7:40444148-40444149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534483593	chr7:40444149-40444150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553272074	chr7:40444162-40444163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553269812	chr7:40444176-40444177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537608949	chr7:40444181-40444182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554388184	chr7:40444217-40444218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371567095	chr7:40444253-40444254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190044331	chr7:40444304-40444305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138961043	chr7:40444313-40444314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535482513	chr7:40444355-40444356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35663988	chr7:40444383-40444384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113323675	chr7:40444408-40444409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79724794	chr7:40444409-40444410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368369511	chr7:40444483-40444484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545717725	chr7:40444519-40444520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79645280	chr7:40444621-40444622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531142304	chr7:40444645-40444646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544767177	chr7:40444730-40444731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561305670	chr7:40444736-40444737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57431885	chr7:40444760-40444761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546771505	chr7:40444792-40444793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566906199	chr7:40444817-40444818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532327924	chr7:40444827-40444828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552063723	chr7:40444868-40444869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568778179	chr7:40444886-40444887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79918052	chr7:40444898-40444899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139615322	chr7:40444966-40444967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112208168	chr7:40444968-40444969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40442200-40443800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:40442400-40444800	Enhancers	HepG2	liver
3	chr7:40443000-40443800	Flanking Active TSS	Liver	Liver
4	chr7:40443400-40443800	Enhancers	NHDF-Ad	bronchial
5	chr7:40443800-40445000	Enhancers	Liver	Liver
6	chr7:40444400-40445600	Weak transcription	Psoas Muscle	Psoas
7	chr7:40445800-40446000	Enhancers	Psoas Muscle	Psoas
8	chr7:40448600-40448800	ZNF genes & repeats	Aorta	Aorta
9	chr7:40448800-40450800	Weak transcription	Aorta	Aorta
10	chr7:40450800-40451000	ZNF genes & repeats	Aorta	Aorta
11	chr7:40451000-40458200	Weak transcription	Aorta	Aorta
12	chr7:40453600-40454400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:40454400-40458200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:40457800-40458200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:40457800-40458200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:40457800-40458200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:40457800-40458400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:40457800-40458400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:40457800-40458600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:40457800-40458600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:40457800-40458800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:40457800-40458800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr7:40458000-40458400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr7:40458000-40458600	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr7:40458200-40458400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:40458200-40458400	Enhancers	Aorta	Aorta
27	chr7:40458200-40458400	Enhancers	Ovary	ovary
28	chr7:40458200-40458400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr7:40458200-40460400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr7:40458200-40460400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:40458200-40460400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:40458200-40460800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:40458200-40461000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:40458400-40458800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:40458400-40459000	Weak transcription	Ovary	ovary
36	chr7:40458400-40459200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:40458400-40473200	Weak transcription	Aorta	Aorta
38	chr7:40458600-40459000	Enhancers	HepG2	liver
39	chr7:40458600-40459200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr7:40458600-40459600	Enhancers	Liver	Liver
41	chr7:40458800-40459000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr7:40458800-40459400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:40459000-40459200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr7:40459000-40459800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:40459000-40459800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:40459000-40459800	Enhancers	Ovary	ovary
47	chr7:40459200-40459400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr7:40459200-40459800	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr7:40459200-40459800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr7:40459200-40459800	Enhancers	NHDF-Ad	bronchial

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