Variant report

Variant	nsv538698
Chromosome Location	chr7:4414140-4467306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4419960..4422829-chr7:4435237..4437889,2	MCF-7	breast:
2	chr7:4419960..4422829-chr7:4435237..4437889,2	MCF-7	breast:
3	chr17:57920568..57922934-chr7:4466757..4469576,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SDK1-1	chr7:4440444-4440679	l_3355_chr7:4440443-4482707_testes
2	lnc-RADIL-3	chr7:4452562-4452778	XLOC_006344
3	lnc-RADIL-3	chr7:4455727-4456136	XLOC_006344

Extended variants
information (count: 776 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:776 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59518612	chr7:4425805-4425806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544987882	chr7:4425814-4425815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533220688	chr7:4425834-4425835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs314654	chr7:4425837-4425838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540882858	chr7:4425841-4425842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561095489	chr7:4425846-4425847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144059025	chr7:4425855-4425856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531126508	chr7:4425867-4425868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569755863	chr7:4425869-4425870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532176035	chr7:4425870-4425871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188722423	chr7:4425875-4425876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181153976	chr7:4425886-4425887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201540234	chr7:4425888-4425889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185195311	chr7:4425890-4425891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs314655	chr7:4425940-4425941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28654290	chr7:4425945-4425946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567897705	chr7:4425984-4425985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536438672	chr7:4426006-4426007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190959670	chr7:4426008-4426009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74642242	chr7:4426026-4426027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376737019	chr7:4426027-4426028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545022948	chr7:4426037-4426038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558489079	chr7:4426038-4426039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182219452	chr7:4426039-4426040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541272990	chr7:4426078-4426079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547431258	chr7:4426099-4426100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116403124	chr7:4426128-4426129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11420167	chr7:4426164-4426165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569361559	chr7:4426165-4426166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543625055	chr7:4426166-4426167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563398721	chr7:4426175-4426176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191628488	chr7:4426182-4426183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182867023	chr7:4426183-4426184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565626419	chr7:4426184-4426185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528073172	chr7:4426193-4426194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373308329	chr7:4426198-4426199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558534978	chr7:4440559-4440560	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs563711012	chr7:4440563-4440564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs528463347	chr7:4440590-4440591	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs370437896	chr7:4440592-4440593	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs565951646	chr7:4440603-4440604	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs534533319	chr7:4440614-4440615	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs75494363	chr7:4440632-4440633	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs201276424	chr7:4440664-4440665	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs1992836	chr7:4440678-4440679	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs540427728	chr7:4442801-4442802	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs553732216	chr7:4442827-4442828	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs573772004	chr7:4442829-4442830	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs184486112	chr7:4442833-4442834	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs562541036	chr7:4442840-4442841	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4425800-4426200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:4442800-4443200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:4442800-4443200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
4	chr7:4445600-4446600	Enhancers	HepG2	liver
5	chr7:4446200-4446600	Enhancers	Esophagus	oesophagus
6	chr7:4452400-4452800	Enhancers	Fetal Brain Male	brain
7	chr7:4452800-4456000	Weak transcription	Fetal Brain Male	brain
8	chr7:4455000-4457600	Enhancers	Fetal Intestine Small	intestine
9	chr7:4455400-4455800	Enhancers	Duodenum Mucosa	Duodenum
10	chr7:4455600-4455800	Enhancers	Brain Substantia Nigra	brain
11	chr7:4455600-4455800	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr7:4455600-4455800	Enhancers	Fetal Intestine Large	intestine
13	chr7:4455600-4456600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:4455800-4456000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:4455800-4456000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr7:4455800-4456000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:4455800-4456000	Active TSS	Adipose Nuclei	Adipose
18	chr7:4455800-4456000	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr7:4455800-4456000	Active TSS	Fetal Brain Female	brain
20	chr7:4455800-4456000	Flanking Active TSS	Fetal Intestine Large	intestine
21	chr7:4455800-4456000	Enhancers	Fetal Stomach	stomach
22	chr7:4455800-4456000	Enhancers	HepG2	liver
23	chr7:4455800-4456200	Active TSS	Aorta	Aorta
24	chr7:4455800-4456200	Active TSS	Brain Germinal Matrix	brain
25	chr7:4455800-4456200	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr7:4455800-4456200	Active TSS	Fetal Lung	lung
27	chr7:4455800-4456400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:4455800-4456400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr7:4455800-4456400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:4455800-4456400	Active TSS	Brain Hippocampus Middle	brain
31	chr7:4455800-4456400	Active TSS	Colon Smooth Muscle	Colon
32	chr7:4455800-4456400	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr7:4455800-4456400	Active TSS	A549	lung
34	chr7:4455800-4456600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:4455800-4456600	Active TSS	Brain Angular Gyrus	brain
36	chr7:4455800-4456600	Active TSS	Brain Anterior Caudate	brain
37	chr7:4455800-4456600	Active TSS	Brain Cingulate Gyrus	brain
38	chr7:4455800-4456600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:4455800-4456600	Active TSS	Stomach Mucosa	stomach
40	chr7:4455800-4456600	Active TSS	Stomach Smooth Muscle	stomach
41	chr7:4456000-4456200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:4456000-4456200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:4456000-4456200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr7:4456000-4456400	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr7:4456000-4456400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:4456000-4456400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:4456000-4456400	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr7:4456000-4456400	Flanking Active TSS	Fetal Brain Female	brain
49	chr7:4456000-4456400	Active TSS	Fetal Intestine Large	intestine
50	chr7:4456000-4456400	Enhancers	Fetal Muscle Trunk	muscle

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