Variant report

Variant	nsv888509
Chromosome Location	chr7:78307944-78327299
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:78311438..78314304-chr7:78317358..78319048,2	K562	blood:
2	chr7:78306457..78309049-chr7:78311061..78313913,2	K562	blood:
3	chr7:78312785..78313370-chr7:78321992..78322721,2	MCF-7	breast:
4	chr7:78312785..78313370-chr7:78321992..78322721,2	MCF-7	breast:
5	chr7:78307549..78310108-chr7:78312372..78315266,3	K562	blood:
6	chr7:78306457..78309049-chr7:78311061..78313913,2	K562	blood:
7	chr7:78311438..78314304-chr7:78317358..78319048,2	K562	blood:
8	chr7:78307549..78310108-chr7:78312372..78315266,3	K562	blood:
9	chr7:78308510..78310824-chr7:78313994..78315780,2	MCF-7	breast:
10	chr7:78308510..78310824-chr7:78313994..78315780,2	MCF-7	breast:

No data

Extended variants
information (count: 822 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:822 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17442142	chr7:78307944-78307945	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529930584	chr7:78307988-78307989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543629104	chr7:78308001-78308002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563440457	chr7:78308002-78308003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79309283	chr7:78308038-78308039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532676543	chr7:78308071-78308072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552658260	chr7:78308102-78308103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185253084	chr7:78308116-78308117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368805837	chr7:78308140-78308141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559413201	chr7:78308151-78308152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574802525	chr7:78308154-78308155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190063230	chr7:78308158-78308159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61617831	chr7:78308171-78308172	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs376728613	chr7:78308185-78308186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs321975	chr7:78308187-78308188	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs550777532	chr7:78308192-78308193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183043354	chr7:78308221-78308222	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs573832640	chr7:78308294-78308295	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs73380243	chr7:78308299-78308300	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186776424	chr7:78308302-78308303	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs73380245	chr7:78308353-78308354	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191679838	chr7:78308407-78308408	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs554885726	chr7:78308434-78308435	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs73380249	chr7:78308489-78308490	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs372131332	chr7:78308530-78308531	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs543714012	chr7:78308565-78308566	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs530624274	chr7:78308583-78308584	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs547292704	chr7:78308649-78308650	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs376331085	chr7:78308698-78308699	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs200494049	chr7:78308722-78308723	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs577073356	chr7:78308756-78308757	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs183914753	chr7:78308772-78308773	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs536084341	chr7:78308775-78308776	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs370411927	chr7:78308776-78308777	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs201022412	chr7:78308861-78308862	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs67874906	chr7:78308862-78308863	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs201217616	chr7:78308863-78308864	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs67958508	chr7:78308865-78308866	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs112534150	chr7:78308927-78308928	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs528514316	chr7:78308947-78308948	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs548273912	chr7:78308952-78308953	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs187838261	chr7:78308988-78308989	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs531128966	chr7:78308992-78308993	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs543523506	chr7:78309010-78309011	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550812461	chr7:78309016-78309017	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373318910	chr7:78309033-78309034	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139608714	chr7:78309052-78309053	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539633580	chr7:78309081-78309082	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192607870	chr7:78309096-78309097	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144300668	chr7:78309115-78309116	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Williams-beuren syndrome	16826523	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78301800-78321600	Weak transcription	Fetal Brain Female	brain
2	chr7:78304800-78313000	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:78305400-78312400	Weak transcription	Brain Substantia Nigra	brain
4	chr7:78305400-78312800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:78305800-78308200	Weak transcription	Brain Anterior Caudate	brain
6	chr7:78307200-78309600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:78307400-78308200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr7:78307400-78312600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:78307400-78313600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:78307800-78312800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:78308200-78308600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr7:78308600-78309400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr7:78309000-78309200	Enhancers	Pancreas	Pancrea
14	chr7:78309200-78311200	Weak transcription	Pancreas	Pancrea
15	chr7:78309400-78310000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr7:78309600-78310000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:78310000-78313000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:78312400-78313800	Enhancers	Brain Substantia Nigra	brain
19	chr7:78312600-78313800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:78312600-78313800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:78312800-78313200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:78312800-78313800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr7:78313000-78313400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr7:78313000-78313800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:78313000-78313800	Enhancers	Brain Cingulate Gyrus	brain
26	chr7:78313000-78313800	Enhancers	Brain Hippocampus Middle	brain
27	chr7:78313000-78314800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:78313200-78319600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:78313600-78313800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:78313600-78314000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:78313800-78316400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:78313800-78321600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:78313800-78334200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:78314000-78315000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:78314000-78315000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:78314800-78316200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:78315000-78315800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:78315000-78315800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:78315000-78316400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:78315400-78315800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:78315400-78315800	Enhancers	NH-A	brain
42	chr7:78315600-78316200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr7:78315800-78317000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:78315800-78317400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:78316200-78317200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:78316200-78318000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:78316400-78318000	Enhancers	Fetal Heart	heart
48	chr7:78317000-78318000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:78317400-78317600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr7:78317400-78318400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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