Variant report

Variant	nsv887389
Chromosome Location	chr7:4946877-4971943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4813542..4816432-chr7:4945729..4948675,2	MCF-7	breast:
2	chr7:4943284..4944790-chr7:4959243..4960927,2	MCF-7	breast:
3	chr7:4960887..4962459-chr7:4962868..4964450,2	K562	blood:
4	chr7:4920467..4922780-chr7:4952296..4954216,2	MCF-7	breast:
5	chr7:4960887..4962459-chr7:4962868..4964450,2	K562	blood:

Variant related genes	Relation type
ENSG00000157927	chromatin interactions
ENSG00000242802	chromatin interactions

Extended variants
information (count: 1317 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1317 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10951714	chr7:4946877-4946878	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185017532	chr7:4946884-4946885	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554134167	chr7:4946903-4946904	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556165672	chr7:4946921-4946922	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200853214	chr7:4946934-4946935	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374106098	chr7:4946950-4946951	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs60272141	chr7:4946951-4946952	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs546257823	chr7:4946961-4946962	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189477508	chr7:4946968-4946969	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs10951715	chr7:4946973-4946974	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs75099081	chr7:4946974-4946975	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs202062526	chr7:4946978-4946979	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369406144	chr7:4946980-4946981	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs116793117	chr7:4946981-4946982	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs59635549	chr7:4946983-4946984	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559660910	chr7:4946988-4946989	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200628439	chr7:4947000-4947001	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs199975620	chr7:4947004-4947005	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs57507079	chr7:4947013-4947014	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369668303	chr7:4947023-4947024	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145141276	chr7:4947024-4947025	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372329878	chr7:4947043-4947044	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549881451	chr7:4947054-4947055	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376593894	chr7:4947070-4947071	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370661719	chr7:4947073-4947074	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139010213	chr7:4947085-4947086	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373883268	chr7:4947124-4947125	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377008684	chr7:4947131-4947132	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370135153	chr7:4947132-4947133	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140746552	chr7:4947136-4947137	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376356241	chr7:4947176-4947177	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs368509258	chr7:4947188-4947189	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547702827	chr7:4947189-4947190	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201181716	chr7:4947191-4947192	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539768431	chr7:4947192-4947193	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375097927	chr7:4947197-4947198	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558151805	chr7:4947215-4947216	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368287435	chr7:4947230-4947231	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs201955602	chr7:4947235-4947236	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375134339	chr7:4947236-4947237	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs6947590	chr7:4947247-4947248	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555878297	chr7:4947253-4947254	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371310368	chr7:4947256-4947257	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs114206278	chr7:4947282-4947283	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541187709	chr7:4947320-4947321	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs149579252	chr7:4947331-4947332	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181074655	chr7:4947354-4947355	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144297015	chr7:4947358-4947359	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148234030	chr7:4947359-4947360	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185916045	chr7:4947367-4947368	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4944600-4957600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:4946600-4964000	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:4946800-4947600	Strong transcription	Brain Anterior Caudate	brain
4	chr7:4947600-4957600	Weak transcription	Brain Anterior Caudate	brain
5	chr7:4949400-4949800	Enhancers	Fetal Muscle Trunk	muscle
6	chr7:4949600-4950000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:4949600-4950000	Enhancers	Fetal Muscle Leg	muscle
8	chr7:4952000-4952800	Enhancers	HepG2	liver
9	chr7:4957600-4957800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
10	chr7:4957600-4958000	ZNF genes & repeats	Brain Anterior Caudate	brain
11	chr7:4957800-4971400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:4958000-4971400	Weak transcription	Brain Anterior Caudate	brain
13	chr7:4959000-4959800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:4959800-4960000	ZNF genes & repeats	Spleen	Spleen
15	chr7:4960000-4960200	Bivalent Enhancer	A549	lung
16	chr7:4962600-4968600	Weak transcription	Right Atrium	heart
17	chr7:4964000-4964200	Enhancers	Brain Hippocampus Middle	brain
18	chr7:4967800-4971400	Weak transcription	Brain Angular Gyrus	brain
19	chr7:4968600-4968800	Enhancers	Esophagus	oesophagus
20	chr7:4970200-4971600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:4971000-4971800	Active TSS	Brain Substantia Nigra	brain
22	chr7:4971000-4973400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:4971200-4971600	Enhancers	Brain Hippocampus Middle	brain
24	chr7:4971400-4971600	Enhancers	Brain Angular Gyrus	brain
25	chr7:4971400-4971600	Enhancers	Brain Cingulate Gyrus	brain
26	chr7:4971400-4971600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr7:4971400-4972000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:4971400-4972600	Enhancers	Brain Anterior Caudate	brain
29	chr7:4971600-4971800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr7:4971600-4972000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr7:4971600-4972000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:4971600-4972000	Active TSS	Brain Angular Gyrus	brain
33	chr7:4971600-4972000	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr7:4971600-4972200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:4971600-4972200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:4971600-4972200	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr7:4971600-4972200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr7:4971600-4972200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:4971600-4972400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:4971800-4972200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:4971800-4973200	Enhancers	Brain Substantia Nigra	brain

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