Variant report

Variant	nsv1023903
Chromosome Location	chr7:125027662-125057454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:125037857..125040245-chr7:125044740..125047619,2	K562	blood:
2	chr7:125037857..125040245-chr7:125044740..125047619,2	K562	blood:
3	chr7:124699558..124701618-chr7:125055753..125057701,2	K562	blood:
4	chr7:125003566..125005765-chr7:125027328..125029861,2	K562	blood:
5	chr7:125044926..125048888-chr7:125049294..125054485,5	K562	blood:
6	chr7:125044926..125048888-chr7:125049294..125054485,5	K562	blood:

Extended variants
information (count: 954 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:954 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6966447	chr7:125027662-125027663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188142754	chr7:125027680-125027681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560406932	chr7:125027758-125027759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75147956	chr7:125027811-125027812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529205405	chr7:125027821-125027822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562600655	chr7:125027871-125027872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531248943	chr7:125027951-125027952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547760866	chr7:125027959-125027960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567690581	chr7:125027966-125027967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530341315	chr7:125027976-125027977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201563155	chr7:125027977-125027978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566953312	chr7:125027983-125027984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539218664	chr7:125028017-125028018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs80070115	chr7:125028068-125028069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386411203	chr7:125028069-125028070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368971937	chr7:125028074-125028075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs61330014	chr7:125028075-125028076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74302598	chr7:125028076-125028077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558821564	chr7:125028094-125028095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569316716	chr7:125028198-125028199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559358309	chr7:125028201-125028202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537883553	chr7:125028205-125028206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192707987	chr7:125028225-125028226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1427570	chr7:125028248-125028249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs183901904	chr7:125028277-125028278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140273054	chr7:125028286-125028287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142436968	chr7:125028305-125028306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577011779	chr7:125028347-125028348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1427569	chr7:125028365-125028366	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs562471960	chr7:125028375-125028376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73719398	chr7:125028423-125028424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76614019	chr7:125028452-125028453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561355362	chr7:125028480-125028481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62482067	chr7:125028492-125028493	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369862429	chr7:125028493-125028494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567270214	chr7:125028498-125028499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560826730	chr7:125028520-125028521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74772899	chr7:125028527-125028528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79459836	chr7:125028528-125028529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78658599	chr7:125028529-125028530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555350072	chr7:125028534-125028535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142252510	chr7:125028557-125028558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552718110	chr7:125028578-125028579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569326690	chr7:125028615-125028616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189414579	chr7:125028657-125028658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548664594	chr7:125028663-125028664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151252693	chr7:125028672-125028673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76891280	chr7:125028685-125028686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554150126	chr7:125028689-125028690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577053142	chr7:125028745-125028746	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125023800-125028000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:125028000-125029000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:125029000-125031000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:125031000-125031200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:125031000-125031400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:125031200-125032400	Enhancers	HUVEC	blood vessel
7	chr7:125031200-125036200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:125032200-125032400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:125034200-125034400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:125034200-125034400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:125034600-125035800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:125034600-125035800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:125035800-125036400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:125035800-125039200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:125035800-125039800	Enhancers	Primary hematopoietic stem cells	blood
16	chr7:125036200-125038600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:125036400-125037600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:125036400-125037800	Enhancers	K562	blood
19	chr7:125037600-125039800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:125039000-125039800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:125039400-125039800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:125039400-125039800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:125045400-125045600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:125045600-125050400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:125046200-125046600	Enhancers	HUVEC	blood vessel
26	chr7:125049600-125050400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:125049800-125050000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:125049800-125050600	Enhancers	HMEC	breast
29	chr7:125050000-125053600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:125050400-125050800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:125050400-125059600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:125053000-125053800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:125053200-125053600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:125053400-125053800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr7:125053600-125054400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:125055000-125055400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:125055400-125056800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:125056800-125058600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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