Variant report

Variant	nsv1019582
Chromosome Location	chr7:3718061-3814514
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3801628..3804260-chr7:3804675..3806733,2	MCF-7	breast:
2	chr7:3800945..3803910-chr7:3805454..3807274,2	K562	blood:
3	chr7:3750817..3752407-chr7:3752998..3754553,2	K562	blood:
4	chr7:3727791..3730295-chr7:3732130..3734302,2	MCF-7	breast:
5	chr7:3450055..3452486-chr7:3794915..3797670,2	MCF-7	breast:
6	chr7:3800945..3803910-chr7:3805454..3807274,2	K562	blood:
7	chr7:3757251..3758935-chr7:3765168..3767703,2	MCF-7	breast:
8	chr7:3727225..3728784-chr7:3739798..3742268,2	K562	blood:
9	chr7:3521823..3522640-chr7:3807742..3808264,2	MCF-7	breast:
10	chr7:3727791..3730295-chr7:3732130..3734302,2	MCF-7	breast:
11	chr7:3757251..3758935-chr7:3765168..3767703,2	MCF-7	breast:
12	chr7:3793998..3797473-chr7:3798195..3801316,4	MCF-7	breast:
13	chr7:3726774..3729602-chr7:3732139..3735055,2	K562	blood:
14	chr7:3750817..3752407-chr7:3752998..3754553,2	K562	blood:
15	chr7:3726774..3729602-chr7:3732139..3735055,2	K562	blood:
16	chr7:3801628..3804260-chr7:3804675..3806733,2	MCF-7	breast:
17	chr7:3793998..3797473-chr7:3798195..3801316,4	MCF-7	breast:
18	chr7:3734945..3735889-chr7:3936899..3937757,3	MCF-7	breast:
19	chr7:3727225..3728784-chr7:3739798..3742268,2	K562	blood:

No data

Extended variants
information (count: 5619 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:5619 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184183966	chr7:3718068-3718069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140090197	chr7:3718103-3718104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368403531	chr7:3718109-3718110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565684600	chr7:3718110-3718111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368296364	chr7:3718128-3718129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150377066	chr7:3718131-3718132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556047943	chr7:3718132-3718133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575584897	chr7:3718135-3718136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547333220	chr7:3718147-3718148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138069052	chr7:3718155-3718156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572024250	chr7:3718160-3718161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189292040	chr7:3718171-3718172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560512610	chr7:3718191-3718192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181027231	chr7:3718199-3718200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543298307	chr7:3718207-3718208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563199758	chr7:3718208-3718209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531705383	chr7:3718224-3718225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185663068	chr7:3718255-3718256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571642168	chr7:3718264-3718265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527778669	chr7:3718265-3718266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547909224	chr7:3718287-3718288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567080296	chr7:3718308-3718309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142192345	chr7:3718318-3718319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573995717	chr7:3718324-3718325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556011715	chr7:3718340-3718341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146014616	chr7:3718349-3718350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73300262	chr7:3718398-3718399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558265635	chr7:3718404-3718405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138814676	chr7:3718412-3718413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559910337	chr7:3718414-3718415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7810971	chr7:3718417-3718418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs190496471	chr7:3718445-3718446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181482888	chr7:3718497-3718498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185725521	chr7:3718561-3718562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190518527	chr7:3718568-3718569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143935994	chr7:3718571-3718572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576784697	chr7:3718572-3718573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545728719	chr7:3718573-3718574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551431844	chr7:3718574-3718575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375929523	chr7:3718584-3718585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563416475	chr7:3718587-3718588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181058817	chr7:3718595-3718596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561068288	chr7:3718596-3718597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369664723	chr7:3718600-3718601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186513976	chr7:3718630-3718631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144285974	chr7:3718664-3718665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115802577	chr7:3718667-3718668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75110570	chr7:3718681-3718682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552455077	chr7:3718723-3718724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565495037	chr7:3718775-3718776	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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:599 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3688800-3728400	Weak transcription	Aorta	Aorta
2	chr7:3704000-3723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:3708600-3723600	Weak transcription	Stomach Mucosa	stomach
4	chr7:3711800-3723600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:3713000-3721800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:3721200-3723400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:3721600-3721800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:3721600-3722000	Enhancers	HepG2	liver
9	chr7:3721600-3723200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:3721800-3722200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:3721800-3722200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:3721800-3722200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:3721800-3722200	Enhancers	Spleen	Spleen
14	chr7:3721800-3722400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:3721800-3722400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:3721800-3724200	Enhancers	Fetal Intestine Small	intestine
17	chr7:3721800-3724400	Enhancers	Fetal Intestine Large	intestine
18	chr7:3722000-3722200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:3722000-3722200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:3722000-3722200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr7:3722000-3722200	Enhancers	Brain Substantia Nigra	brain
22	chr7:3722000-3722200	Enhancers	Gastric	stomach
23	chr7:3722000-3722200	Enhancers	Pancreas	Pancrea
24	chr7:3722000-3722200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr7:3722000-3722400	Enhancers	Adipose Nuclei	Adipose
26	chr7:3722000-3722400	Enhancers	Liver	Liver
27	chr7:3722000-3722400	Enhancers	Rectal Smooth Muscle	rectum
28	chr7:3722000-3722400	Flanking Active TSS	HepG2	liver
29	chr7:3722200-3722400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:3722200-3723000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:3722200-3723200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:3722200-3723200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:3722200-3723200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:3722200-3723400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:3722200-3723600	Weak transcription	Gastric	stomach
36	chr7:3722200-3723600	Weak transcription	Spleen	Spleen
37	chr7:3722200-3738000	Weak transcription	Pancreas	Pancrea
38	chr7:3722400-3723200	Enhancers	HepG2	liver
39	chr7:3722400-3725400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:3722800-3724400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:3722800-3724400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr7:3723000-3724200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:3723000-3728600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:3723200-3723400	Enhancers	Fetal Kidney	kidney
45	chr7:3723200-3724000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:3723200-3724000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:3723200-3724000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr7:3723200-3724000	Flanking Active TSS	HepG2	liver
49	chr7:3723200-3724200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr7:3723200-3724200	Enhancers	HUES6 Cell Line	embryonic stem cell

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