Variant report

Variant	nsv538684
Chromosome Location	chr7:3808366-3923408
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3828320..3832262-chr7:3833106..3836337,3	K562	blood:
2	chr7:3824486..3827082-chr7:3833919..3835661,2	MCF-7	breast:
3	chr7:3879550..3881787-chr7:3882435..3885278,2	MCF-7	breast:
4	chr7:3848437..3851053-chr7:3868632..3870528,2	MCF-7	breast:
5	chr7:3848437..3851053-chr7:3868632..3870528,2	MCF-7	breast:
6	chr7:3885725..3887398-chr7:3891256..3893555,2	K562	blood:
7	chr7:3879550..3881787-chr7:3882435..3885278,2	MCF-7	breast:
8	chr7:3869441..3873485-chr7:3874095..3876939,3	MCF-7	breast:
9	chr7:3824486..3827082-chr7:3833919..3835661,2	MCF-7	breast:
10	chr7:3895859..3898107-chr7:3900891..3903068,3	MCF-7	breast:
11	chr7:3885725..3887398-chr7:3891256..3893555,2	K562	blood:
12	chr7:3895859..3898107-chr7:3900891..3903068,3	MCF-7	breast:
13	chr7:3869441..3873485-chr7:3874095..3876939,3	MCF-7	breast:
14	chr7:3828320..3832262-chr7:3833106..3836337,3	K562	blood:

No data

Extended variants
information (count: 6691 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:6691 , 50 per page) page: 1 2 3 4 5 6 7 ... 134

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115092111	chr7:3808386-3808387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545503459	chr7:3808389-3808390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570814803	chr7:3808420-3808421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186863326	chr7:3808438-3808439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546769447	chr7:3808448-3808449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543592443	chr7:3808487-3808488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141856022	chr7:3808490-3808491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555175861	chr7:3808502-3808503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191255237	chr7:3808521-3808522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115717813	chr7:3808524-3808525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183161965	chr7:3808538-3808539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536964086	chr7:3808558-3808559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577173688	chr7:3808617-3808618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150611593	chr7:3808652-3808653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186060101	chr7:3808661-3808662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371008774	chr7:3808669-3808670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141066275	chr7:3808777-3808778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10156188	chr7:3808799-3808800	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542374509	chr7:3808812-3808813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562240959	chr7:3808875-3808876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529272661	chr7:3808919-3808920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73306111	chr7:3808930-3808931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs144875736	chr7:3808971-3808972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548039629	chr7:3808987-3808988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370058730	chr7:3808989-3808990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564811642	chr7:3809001-3809002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190879063	chr7:3809010-3809011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547001381	chr7:3809018-3809019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73032371	chr7:3809059-3809060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560103314	chr7:3809066-3809067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10235176	chr7:3809089-3809090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs374220648	chr7:3809096-3809097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529352220	chr7:3809128-3809129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549087350	chr7:3809146-3809147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568663409	chr7:3809152-3809153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542687406	chr7:3809162-3809163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183182213	chr7:3809182-3809183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557618498	chr7:3809183-3809184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571563435	chr7:3809201-3809202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115470210	chr7:3809209-3809210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533700690	chr7:3809213-3809214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117532072	chr7:3809214-3809215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573579954	chr7:3809224-3809225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187602118	chr7:3809236-3809237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372201846	chr7:3809253-3809254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147932254	chr7:3809297-3809298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192586989	chr7:3809323-3809324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373412311	chr7:3809332-3809333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116269385	chr7:3809349-3809350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564748610	chr7:3809363-3809364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3773000-3820000	Weak transcription	Pancreas	Pancrea
2	chr7:3802000-3810400	Weak transcription	Aorta	Aorta
3	chr7:3806800-3808600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:3806800-3808800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:3807000-3808600	Enhancers	Brain Germinal Matrix	brain
6	chr7:3807000-3808800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:3807400-3808600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:3807600-3809000	Enhancers	Fetal Brain Female	brain
9	chr7:3807800-3808400	Enhancers	Fetal Brain Male	brain
10	chr7:3808400-3809400	Weak transcription	Fetal Brain Male	brain
11	chr7:3809400-3809600	Enhancers	Fetal Brain Male	brain
12	chr7:3810200-3811000	Enhancers	Spleen	Spleen
13	chr7:3810400-3811000	ZNF genes & repeats	Aorta	Aorta
14	chr7:3810600-3811000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:3811000-3819800	Weak transcription	Aorta	Aorta
16	chr7:3811600-3812000	Enhancers	HUVEC	blood vessel
17	chr7:3816200-3817000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:3816600-3818600	Enhancers	Fetal Lung	lung
19	chr7:3816800-3818600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:3817000-3817600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:3817000-3817600	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr7:3817200-3817800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:3817200-3817800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:3817200-3817800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:3817400-3817800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:3817600-3817800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:3817600-3819000	Enhancers	Rectal Smooth Muscle	rectum
28	chr7:3817600-3820000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:3817800-3818600	Enhancers	Fetal Brain Female	brain
30	chr7:3819800-3820400	Active TSS	Fetal Heart	heart
31	chr7:3819800-3822000	ZNF genes & repeats	Aorta	Aorta
32	chr7:3820000-3820200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr7:3820000-3820200	Enhancers	Pancreas	Pancrea
34	chr7:3820200-3821000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:3820600-3821400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:3821000-3821200	Active TSS	Fetal Heart	heart
37	chr7:3821000-3821800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:3821800-3822000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:3822000-3822800	Weak transcription	Aorta	Aorta
40	chr7:3822000-3823600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:3825400-3826200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:3825400-3826400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:3825400-3826600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:3825600-3826000	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr7:3825800-3827000	Enhancers	Fetal Brain Male	brain
46	chr7:3826200-3826600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:3826400-3826800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:3826600-3828200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:3826800-3827600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:3827000-3832400	Weak transcription	Fetal Brain Male	brain

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