Variant report

Variant	nsv1017615
Chromosome Location	chr7:40445480-40570791
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:40271945..40272762-chr7:40522914..40523878,2	MCF-7	breast:
2	chr7:40546524..40547688-chr7:40644081..40645084,3	MCF-7	breast:
3	chr7:40529348..40529994-chr7:40644364..40645119,2	MCF-7	breast:
4	chr7:40542350..40544621-chr7:40545682..40548549,2	K562	blood:
5	chr7:40486893..40487438-chr7:40802655..40803441,2	MCF-7	breast:
6	chr7:40498722..40501081-chr7:40509023..40511956,2	K562	blood:
7	chr7:40498722..40501081-chr7:40509023..40511956,2	K562	blood:
8	chr7:40561772..40563957-chr7:40570826..40573636,2	K562	blood:
9	chr7:40542350..40544621-chr7:40545682..40548549,2	K562	blood:

No data

Extended variants
information (count: 3893 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:3893 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534705604	chr7:40445573-40445574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560174488	chr7:40445592-40445593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149379352	chr7:40445803-40445804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73324022	chr7:40445812-40445813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547483350	chr7:40445823-40445824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144758798	chr7:40445824-40445825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139599292	chr7:40445825-40445826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368544868	chr7:40445834-40445835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540565684	chr7:40445873-40445874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568333660	chr7:40445884-40445885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77161345	chr7:40445887-40445888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111781042	chr7:40445945-40445946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373871670	chr7:40445985-40445986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372115504	chr7:40448613-40448614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs558106844	chr7:40448620-40448621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs112631067	chr7:40448626-40448627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs375368861	chr7:40448627-40448628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs35438068	chr7:40448670-40448671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs182912620	chr7:40448699-40448700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs186876138	chr7:40448729-40448730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs191778335	chr7:40448832-40448833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559365452	chr7:40448863-40448864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs66510608	chr7:40448875-40448876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117890481	chr7:40448904-40448905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182130370	chr7:40448906-40448907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564520658	chr7:40448919-40448920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188005784	chr7:40448928-40448929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536358977	chr7:40448937-40448938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550449446	chr7:40448966-40448967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570160864	chr7:40448967-40448968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536010451	chr7:40449050-40449051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549225050	chr7:40449060-40449061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566150822	chr7:40449079-40449080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554686842	chr7:40449128-40449129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144960803	chr7:40449144-40449145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558219350	chr7:40449156-40449157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578066481	chr7:40449190-40449191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193083385	chr7:40449213-40449214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557178758	chr7:40449215-40449216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539403139	chr7:40449285-40449286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111917936	chr7:40449305-40449306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185884050	chr7:40449358-40449359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371553250	chr7:40449533-40449534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559258740	chr7:40449553-40449554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540853538	chr7:40449593-40449594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142044556	chr7:40449612-40449613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572829245	chr7:40449646-40449647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145781705	chr7:40449658-40449659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190409109	chr7:40449708-40449709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117170454	chr7:40449718-40449719	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:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40444400-40445600	Weak transcription	Psoas Muscle	Psoas
2	chr7:40445800-40446000	Enhancers	Psoas Muscle	Psoas
3	chr7:40448600-40448800	ZNF genes & repeats	Aorta	Aorta
4	chr7:40448800-40450800	Weak transcription	Aorta	Aorta
5	chr7:40450800-40451000	ZNF genes & repeats	Aorta	Aorta
6	chr7:40451000-40458200	Weak transcription	Aorta	Aorta
7	chr7:40453600-40454400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:40454400-40458200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:40457800-40458200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:40457800-40458200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:40457800-40458200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:40457800-40458400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:40457800-40458400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:40457800-40458600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:40457800-40458600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:40457800-40458800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:40457800-40458800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr7:40458000-40458400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:40458000-40458600	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr7:40458200-40458400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:40458200-40458400	Enhancers	Aorta	Aorta
22	chr7:40458200-40458400	Enhancers	Ovary	ovary
23	chr7:40458200-40458400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr7:40458200-40460400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr7:40458200-40460400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:40458200-40460400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:40458200-40460800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:40458200-40461000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:40458400-40458800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:40458400-40459000	Weak transcription	Ovary	ovary
31	chr7:40458400-40459200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:40458400-40473200	Weak transcription	Aorta	Aorta
33	chr7:40458600-40459000	Enhancers	HepG2	liver
34	chr7:40458600-40459200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:40458600-40459600	Enhancers	Liver	Liver
36	chr7:40458800-40459000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr7:40458800-40459400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:40459000-40459200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr7:40459000-40459800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:40459000-40459800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:40459000-40459800	Enhancers	Ovary	ovary
42	chr7:40459200-40459400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr7:40459200-40459800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr7:40459200-40459800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr7:40459200-40459800	Enhancers	NHDF-Ad	bronchial
46	chr7:40459200-40460000	Enhancers	Primary hematopoietic stem cells	blood
47	chr7:40459400-40459800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:40459400-40460000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr7:40459400-40460000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr7:40459800-40467400	Weak transcription	Rectal Mucosa Donor 29	rectum

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