Variant report

Variant	esv3523970
Chromosome Location	chr7:4002206-4004374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3996452..3999327-chr7:4001947..4004712,2	MCF-7	breast:

Extended variants
information (count: 147 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532573396	chr7:4002233-4002234	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185604572	chr7:4002240-4002241	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376575205	chr7:4002242-4002243	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141647689	chr7:4002243-4002244	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367967209	chr7:4002267-4002268	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376658628	chr7:4002276-4002277	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371820284	chr7:4002296-4002297	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150503747	chr7:4002309-4002310	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202020244	chr7:4002355-4002356	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147881796	chr7:4002364-4002365	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148919634	chr7:4002369-4002370	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371146684	chr7:4002374-4002375	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139796765	chr7:4002375-4002376	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547185174	chr7:4002384-4002385	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375595635	chr7:4002385-4002386	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555285055	chr7:4002391-4002392	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371065564	chr7:4002399-4002400	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148101694	chr7:4002400-4002401	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141891693	chr7:4002413-4002414	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374472166	chr7:4002428-4002429	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539653691	chr7:4002431-4002432	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368751556	chr7:4002442-4002443	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150361503	chr7:4002461-4002462	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138011826	chr7:4002471-4002472	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142691833	chr7:4002478-4002479	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370678182	chr7:4002494-4002495	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555618003	chr7:4002510-4002511	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375109803	chr7:4002520-4002521	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575199349	chr7:4002553-4002554	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111943508	chr7:4002562-4002563	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11979862	chr7:4002567-4002568	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544150520	chr7:4002574-4002575	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563851934	chr7:4002583-4002584	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73674362	chr7:4002597-4002598	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532832322	chr7:4002615-4002616	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112795927	chr7:4002620-4002621	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11977531	chr7:4002626-4002627	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559549523	chr7:4002633-4002634	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111416998	chr7:4002647-4002648	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62439588	chr7:4002650-4002651	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528670992	chr7:4002654-4002655	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548643260	chr7:4002670-4002671	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568732763	chr7:4002672-4002673	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112864858	chr7:4002680-4002681	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530812182	chr7:4002686-4002687	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368095909	chr7:4002703-4002704	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55708835	chr7:4002719-4002720	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13312583	chr7:4002763-4002764	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570971250	chr7:4002765-4002766	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568826178	chr7:4002770-4002771	Strong transcription Weak transcription	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
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3988400-4005400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:3988600-4010000	Weak transcription	Left Ventricle	heart
3	chr7:3988600-4032600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:3989200-4013800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:3989400-4031000	Weak transcription	Right Ventricle	heart
6	chr7:3989800-4002400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:3989800-4020800	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:3995200-4007400	Weak transcription	Brain Germinal Matrix	brain
9	chr7:3996200-4007200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:3996200-4017200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:3996400-4015800	Weak transcription	HSMM	muscle
12	chr7:3996400-4037600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:3997000-4006400	Weak transcription	Spleen	Spleen
14	chr7:3997000-4019400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:3998000-4003600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:3998000-4020800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:3998400-4045600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:3998800-4007000	Weak transcription	Gastric	stomach
19	chr7:3999000-4006800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:3999200-4009600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:3999600-4003000	Weak transcription	Brain Substantia Nigra	brain
22	chr7:3999600-4005400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:3999800-4003800	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:4000200-4016200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:4000200-4032600	Weak transcription	Adipose Nuclei	Adipose
26	chr7:4000400-4007000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:4001000-4005400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:4001000-4005400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:4001400-4002400	Strong transcription	Fetal Brain Female	brain
30	chr7:4001400-4002800	Strong transcription	Pancreas	Pancrea
31	chr7:4001600-4013000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:4001800-4003600	Weak transcription	Fetal Lung	lung
33	chr7:4001800-4004600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:4001800-4004600	Strong transcription	Fetal Stomach	stomach
35	chr7:4001800-4004800	Strong transcription	Fetal Intestine Small	intestine
36	chr7:4001800-4011000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:4001800-4014600	Weak transcription	Fetal Intestine Large	intestine
38	chr7:4001800-4016800	Weak transcription	Fetal Brain Male	brain
39	chr7:4001800-4016800	Weak transcription	Fetal Kidney	kidney
40	chr7:4002000-4004000	Strong transcription	Aorta	Aorta
41	chr7:4002000-4014000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:4002200-4002400	Strong transcription	Fetal Muscle Leg	muscle
43	chr7:4002200-4002600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr7:4002200-4007000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:4002200-4009000	Weak transcription	Right Atrium	heart
46	chr7:4002400-4003800	Strong transcription	Pancreatic Islets	Pancreatic Islet
47	chr7:4002400-4014200	Weak transcription	Fetal Brain Female	brain
48	chr7:4002400-4016600	Weak transcription	Fetal Muscle Leg	muscle
49	chr7:4002600-4006800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:4002800-4003200	Weak transcription	Pancreas	Pancrea

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