Variant report

Variant	nsv1017868
Chromosome Location	chr7:3698885-3820159
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	chr7:3750817..3752407-chr7:3752998..3754553,2	K562	blood:
2	chr7:3727791..3730295-chr7:3732130..3734302,2	MCF-7	breast:
3	chr7:3793998..3797473-chr7:3798195..3801316,4	MCF-7	breast:
4	chr7:3727225..3728784-chr7:3739798..3742268,2	K562	blood:
5	chr7:3801628..3804260-chr7:3804675..3806733,2	MCF-7	breast:
6	chr7:3757251..3758935-chr7:3765168..3767703,2	MCF-7	breast:
7	chr7:3727791..3730295-chr7:3732130..3734302,2	MCF-7	breast:
8	chr7:3521823..3522640-chr7:3807742..3808264,2	MCF-7	breast:
9	chr7:3793998..3797473-chr7:3798195..3801316,4	MCF-7	breast:
10	chr7:3450055..3452486-chr7:3794915..3797670,2	MCF-7	breast:
11	chr7:3726774..3729602-chr7:3732139..3735055,2	K562	blood:
12	chr7:3800945..3803910-chr7:3805454..3807274,2	K562	blood:
13	chr7:3727225..3728784-chr7:3739798..3742268,2	K562	blood:
14	chr7:3734945..3735889-chr7:3936899..3937757,3	MCF-7	breast:
15	chr7:3750817..3752407-chr7:3752998..3754553,2	K562	blood:
16	chr7:3801628..3804260-chr7:3804675..3806733,2	MCF-7	breast:
17	chr7:3726774..3729602-chr7:3732139..3735055,2	K562	blood:
18	chr7:3800945..3803910-chr7:3805454..3807274,2	K562	blood:
19	chr7:3757251..3758935-chr7:3765168..3767703,2	MCF-7	breast:

No data

Extended variants
information (count: 7151 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:7151 , 50 per page) page: 1 2 3 4 5 6 7 ... 144

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542963380	chr7:3698896-3698897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556860809	chr7:3698900-3698901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115129847	chr7:3698901-3698902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182753907	chr7:3698902-3698903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141910784	chr7:3698903-3698904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527809177	chr7:3698915-3698916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541172653	chr7:3698929-3698930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115738803	chr7:3698937-3698938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187807538	chr7:3698994-3698995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575614089	chr7:3699007-3699008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549805427	chr7:3699023-3699024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569643859	chr7:3699055-3699056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191169337	chr7:3699069-3699070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77004073	chr7:3699074-3699075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568550650	chr7:3699077-3699078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534424403	chr7:3699078-3699079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79662170	chr7:3699093-3699094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76867841	chr7:3699094-3699095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80200089	chr7:3699095-3699096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77113006	chr7:3699096-3699097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373947233	chr7:3699106-3699107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183417381	chr7:3699107-3699108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs891856	chr7:3699146-3699147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187410434	chr7:3699158-3699159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536876486	chr7:3699162-3699163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556561724	chr7:3699174-3699175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576822160	chr7:3699177-3699178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7791963	chr7:3699189-3699190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150485657	chr7:3699196-3699197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs891855	chr7:3699211-3699212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572531068	chr7:3699215-3699216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541156512	chr7:3699223-3699224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192159876	chr7:3699233-3699234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78911430	chr7:3699237-3699238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543638337	chr7:3699238-3699239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138310355	chr7:3699253-3699254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532295780	chr7:3699268-3699269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184711869	chr7:3699273-3699274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558934016	chr7:3699289-3699290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188170948	chr7:3699314-3699315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192651177	chr7:3699348-3699349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547954248	chr7:3699361-3699362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370359928	chr7:3699364-3699365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568179863	chr7:3699367-3699368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536408132	chr7:3699386-3699387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79067241	chr7:3699407-3699408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184501648	chr7:3699409-3699410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539348896	chr7:3699410-3699411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559332698	chr7:3699432-3699433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572344214	chr7:3699498-3699499	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:668 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3688400-3703200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:3688800-3703200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:3688800-3728400	Weak transcription	Aorta	Aorta
4	chr7:3694400-3705800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:3695800-3699400	Weak transcription	Stomach Mucosa	stomach
6	chr7:3696000-3707800	Weak transcription	Pancreas	Pancrea
7	chr7:3699600-3700600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:3700000-3700200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:3700200-3704000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr7:3703000-3704000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:3703200-3703400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:3703200-3703800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:3703200-3704000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:3703400-3703800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:3703800-3704000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:3704000-3709000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:3704000-3723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:3705800-3706200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:3706000-3706600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:3706200-3711600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:3707800-3708400	Enhancers	Pancreas	Pancrea
22	chr7:3708400-3711600	Weak transcription	Pancreas	Pancrea
23	chr7:3708600-3723600	Weak transcription	Stomach Mucosa	stomach
24	chr7:3708800-3713000	Enhancers	Primary T cells from cord blood	blood
25	chr7:3709000-3713400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr7:3710200-3710400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr7:3710200-3710600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr7:3710200-3710800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr7:3710200-3710800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:3710200-3712200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr7:3710400-3712000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr7:3710600-3711000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr7:3710600-3711000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:3710600-3711600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:3710600-3711800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:3710600-3712000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr7:3711000-3712000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr7:3711400-3712200	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr7:3711600-3711800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:3711600-3712000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr7:3711600-3712000	Enhancers	Fetal Brain Male	brain
42	chr7:3711600-3712000	Enhancers	Pancreas	Pancrea
43	chr7:3711600-3712000	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr7:3711600-3712000	Enhancers	Thymus	Thymus
45	chr7:3711800-3712200	Enhancers	Fetal Lung	lung
46	chr7:3711800-3723600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:3712000-3713000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr7:3712000-3713200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:3712600-3713000	Enhancers	Primary B cells from peripheral blood	blood
50	chr7:3712800-3713000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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