Variant report

Variant	nsv538824
Chromosome Location	chr7:40649369-40767377
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:40726789..40728453-chr7:40733960..40735674,2	K562	blood:
2	chr7:40754402..40757176-chr7:40759198..40761990,2	MCF-7	breast:
3	chr7:40687539..40689554-chr7:40692603..40695088,2	K562	blood:
4	chr7:40271921..40272777-chr7:40766227..40766815,2	MCF-7	breast:
5	chr7:40687539..40689554-chr7:40692603..40695088,2	K562	blood:
6	chr7:40679489..40681796-chr7:40691535..40693864,2	MCF-7	breast:
7	chr7:40757616..40759165-chr7:40763686..40766590,2	MCF-7	breast:
8	chr7:40642351..40644678-chr7:40648478..40652867,3	K562	blood:
9	chr7:40754402..40757176-chr7:40759198..40761990,2	MCF-7	breast:
10	chr7:40756767..40759602-chr7:40763278..40766284,3	MCF-7	breast:
11	chr7:40679489..40681796-chr7:40691535..40693864,2	MCF-7	breast:
12	chr7:40739877..40740575-chr7:40765897..40766832,3	MCF-7	breast:
13	chr7:40756767..40759602-chr7:40763278..40766284,3	MCF-7	breast:
14	chr7:40726572..40729922-chr7:40745740..40747693,3	K562	blood:
15	chr7:40739877..40740575-chr7:40765897..40766832,3	MCF-7	breast:
16	chr7:40717841..40720122-chr7:40725569..40728338,2	MCF-7	breast:
17	chr7:40717841..40720122-chr7:40725569..40728338,2	MCF-7	breast:
18	chr7:40726789..40728453-chr7:40733960..40735674,2	K562	blood:
19	chr7:40726572..40729922-chr7:40745740..40747693,3	K562	blood:
20	chr7:40757616..40759165-chr7:40763686..40766590,2	MCF-7	breast:

No data

Extended variants
information (count: 3997 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:3997 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528661278	chr7:40649377-40649378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180848258	chr7:40649385-40649386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551514686	chr7:40649413-40649414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185254991	chr7:40649432-40649433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200454956	chr7:40649447-40649448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189678652	chr7:40649468-40649469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374001620	chr7:40649472-40649473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567630493	chr7:40649504-40649505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1034804	chr7:40649584-40649585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553294060	chr7:40649591-40649592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147276982	chr7:40649657-40649658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538837950	chr7:40649712-40649713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558742868	chr7:40649751-40649752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575257241	chr7:40649773-40649774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544265479	chr7:40649782-40649783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183386523	chr7:40649786-40649787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560746506	chr7:40649826-40649827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574367201	chr7:40649827-40649828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542964314	chr7:40649852-40649853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188667837	chr7:40649899-40649900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191944812	chr7:40649917-40649918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551575900	chr7:40649972-40649973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183261313	chr7:40649996-40649997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565449960	chr7:40650002-40650003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530937147	chr7:40650054-40650055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188282427	chr7:40650116-40650117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567594079	chr7:40650123-40650124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191951554	chr7:40650142-40650143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73689832	chr7:40650155-40650156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566781057	chr7:40650204-40650205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538899546	chr7:40650205-40650206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140789111	chr7:40650207-40650208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575371308	chr7:40650233-40650234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184147470	chr7:40650275-40650276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76620751	chr7:40650276-40650277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574404998	chr7:40650313-40650314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529703147	chr7:40650321-40650322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539854056	chr7:40650330-40650331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186938102	chr7:40650332-40650333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553319442	chr7:40650350-40650351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191327479	chr7:40650355-40650356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114763207	chr7:40650361-40650362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565373748	chr7:40650393-40650394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531125961	chr7:40650404-40650405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185762190	chr7:40650435-40650436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377058551	chr7:40650440-40650441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548350437	chr7:40650447-40650448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377193761	chr7:40650455-40650456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143002534	chr7:40650471-40650472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190240287	chr7:40650479-40650480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Dyslexia	22102821	CNVD

Chromatin state (count:633 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40642600-40651800	Weak transcription	HSMM	muscle
2	chr7:40646200-40668800	Weak transcription	Aorta	Aorta
3	chr7:40650200-40651200	Enhancers	HepG2	liver
4	chr7:40651200-40651600	Weak transcription	HepG2	liver
5	chr7:40651600-40652400	Enhancers	HepG2	liver
6	chr7:40654600-40676400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:40659400-40660200	Enhancers	Fetal Intestine Large	intestine
8	chr7:40659400-40660600	Enhancers	HepG2	liver
9	chr7:40660200-40662400	Weak transcription	Fetal Intestine Large	intestine
10	chr7:40660600-40661600	Weak transcription	HepG2	liver
11	chr7:40661000-40665400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr7:40661600-40665200	Enhancers	Fetal Intestine Small	intestine
13	chr7:40661600-40665400	Enhancers	HepG2	liver
14	chr7:40662200-40663000	Enhancers	Liver	Liver
15	chr7:40662400-40662800	Enhancers	Ovary	ovary
16	chr7:40662400-40663000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:40662400-40663800	Enhancers	Small Intestine	intestine
18	chr7:40662400-40665200	Enhancers	Fetal Intestine Large	intestine
19	chr7:40662600-40664800	Enhancers	Fetal Lung	lung
20	chr7:40662800-40663600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr7:40662800-40663800	Enhancers	Fetal Kidney	kidney
22	chr7:40662800-40664200	Weak transcription	Ovary	ovary
23	chr7:40663400-40664800	Enhancers	Duodenum Mucosa	Duodenum
24	chr7:40663600-40663800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr7:40663600-40665000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:40663600-40665000	Enhancers	K562	blood
27	chr7:40663800-40664400	Weak transcription	Fetal Kidney	kidney
28	chr7:40664200-40664400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr7:40664200-40664800	Enhancers	Ovary	ovary
30	chr7:40664200-40665000	Enhancers	Right Atrium	heart
31	chr7:40664600-40664800	Enhancers	Fetal Kidney	kidney
32	chr7:40664800-40665400	Weak transcription	Ovary	ovary
33	chr7:40665400-40665800	Weak transcription	HepG2	liver
34	chr7:40665400-40667200	Enhancers	Ovary	ovary
35	chr7:40665400-40668800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:40665800-40666400	Enhancers	HepG2	liver
37	chr7:40668200-40679800	Weak transcription	Psoas Muscle	Psoas
38	chr7:40668800-40669200	Enhancers	Aorta	Aorta
39	chr7:40668800-40669200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr7:40669200-40681400	Weak transcription	Aorta	Aorta
41	chr7:40671600-40672000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:40676600-40677000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:40677400-40678600	Enhancers	Fetal Heart	heart
44	chr7:40678400-40679000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:40678600-40678800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:40678600-40683800	Weak transcription	Fetal Heart	heart
47	chr7:40679000-40680000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:40679000-40680000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:40679600-40680600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:40679800-40681000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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