Variant report

Variant	nsv1024837
Chromosome Location	chr7:3693237-3753563
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3727791..3730295-chr7:3732130..3734302,2	MCF-7	breast:
2	chr7:3727791..3730295-chr7:3732130..3734302,2	MCF-7	breast:
3	chr7:3727225..3728784-chr7:3739798..3742268,2	K562	blood:
4	chr7:3734945..3735889-chr7:3936899..3937757,3	MCF-7	breast:
5	chr7:3727225..3728784-chr7:3739798..3742268,2	K562	blood:
6	chr7:3750817..3752407-chr7:3752998..3754553,2	K562	blood:
7	chr7:3675585..3677733-chr7:3691127..3693566,2	K562	blood:
8	chr7:3726774..3729602-chr7:3732139..3735055,2	K562	blood:
9	chr7:3726774..3729602-chr7:3732139..3735055,2	K562	blood:
10	chr4:37757943..37758649-chr7:3694176..3695010,2	MCF-7	breast:
11	chr7:3750817..3752407-chr7:3752998..3754553,2	K562	blood:

No data

Extended variants
information (count: 3651 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3651 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577833592	chr7:3693251-3693252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540537557	chr7:3693254-3693255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149385892	chr7:3693273-3693274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573674868	chr7:3693337-3693338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181163718	chr7:3693349-3693350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555330745	chr7:3693352-3693353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576694783	chr7:3693355-3693356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144726250	chr7:3693357-3693358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531450979	chr7:3693360-3693361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544449351	chr7:3693369-3693370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564704466	chr7:3693370-3693371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574082652	chr7:3693392-3693393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562509417	chr7:3693409-3693410	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114371420	chr7:3693424-3693425	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566871884	chr7:3693441-3693442	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529231814	chr7:3693460-3693461	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201018823	chr7:3693480-3693481	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148098803	chr7:3693487-3693488	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185717327	chr7:3693500-3693501	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557622913	chr7:3693505-3693506	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571429287	chr7:3693512-3693513	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2568523	chr7:3693557-3693558	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554086752	chr7:3693563-3693564	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115341022	chr7:3693571-3693572	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548459576	chr7:3693596-3693597	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566455557	chr7:3693618-3693619	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542608624	chr7:3693621-3693622	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556560167	chr7:3693632-3693633	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10807852	chr7:3693689-3693690	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs576005421	chr7:3693695-3693696	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71527456	chr7:3693714-3693715	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551968038	chr7:3693753-3693754	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12674395	chr7:3693758-3693759	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs141815464	chr7:3693762-3693763	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539124457	chr7:3693774-3693775	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188125230	chr7:3693799-3693800	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540456561	chr7:3693807-3693808	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560400138	chr7:3693809-3693810	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549123742	chr7:3693812-3693813	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146156025	chr7:3693814-3693815	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373303956	chr7:3693818-3693819	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181030500	chr7:3693833-3693834	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543669966	chr7:3693852-3693853	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186426061	chr7:3693858-3693859	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531671952	chr7:3693873-3693874	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551844102	chr7:3693895-3693896	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575587065	chr7:3693929-3693930	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140163472	chr7:3693932-3693933	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143083483	chr7:3693946-3693947	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34784806	chr7:3693966-3693967	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:250 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3671000-3695600	Weak transcription	Fetal Intestine Small	intestine
2	chr7:3681200-3695400	Weak transcription	Spleen	Spleen
3	chr7:3683200-3695600	Weak transcription	Pancreas	Pancrea
4	chr7:3683400-3693400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:3683800-3696000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:3688400-3703200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:3688800-3703200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:3688800-3728400	Weak transcription	Aorta	Aorta
9	chr7:3693400-3694400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:3694400-3705800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:3695400-3695600	Enhancers	Spleen	Spleen
12	chr7:3695400-3695800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr7:3695400-3695800	Enhancers	Stomach Mucosa	stomach
14	chr7:3695600-3695800	Enhancers	Fetal Intestine Small	intestine
15	chr7:3695600-3696000	Enhancers	Pancreas	Pancrea
16	chr7:3695800-3699400	Weak transcription	Stomach Mucosa	stomach
17	chr7:3696000-3707800	Weak transcription	Pancreas	Pancrea
18	chr7:3696800-3697200	Enhancers	Fetal Muscle Trunk	muscle
19	chr7:3696800-3697400	Enhancers	Fetal Muscle Leg	muscle
20	chr7:3696800-3697400	Enhancers	HSMM	muscle
21	chr7:3696800-3697600	Enhancers	HSMMtube	muscle
22	chr7:3697000-3697400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:3699600-3700600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:3700000-3700200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:3700200-3704000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr7:3703000-3704000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr7:3703200-3703400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:3703200-3703800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:3703200-3704000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:3703400-3703800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:3703800-3704000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:3704000-3709000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:3704000-3723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:3705800-3706200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:3706000-3706600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:3706200-3711600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:3707800-3708400	Enhancers	Pancreas	Pancrea
38	chr7:3708400-3711600	Weak transcription	Pancreas	Pancrea
39	chr7:3708600-3723600	Weak transcription	Stomach Mucosa	stomach
40	chr7:3708800-3713000	Enhancers	Primary T cells from cord blood	blood
41	chr7:3709000-3713400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr7:3710200-3710400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr7:3710200-3710600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr7:3710200-3710800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr7:3710200-3710800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:3710200-3712200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr7:3710400-3712000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr7:3710600-3711000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr7:3710600-3711000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:3710600-3711600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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