Variant report

Variant	nsv608112
Chromosome Location	chr7:109751674-109811833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:109750645..109752483-chr7:109755448..109757268,2	K562	blood:
2	chr7:109750645..109752483-chr7:109755448..109757268,2	K562	blood:
3	chr7:109750040..109751863-chr7:109755032..109756832,2	MCF-7	breast:
4	chr7:109750040..109751863-chr7:109755032..109756832,2	MCF-7	breast:

Extended variants
information (count: 1407 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1407 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2244263	chr7:109751674-109751675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527520976	chr7:109751706-109751707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367758691	chr7:109751743-109751744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148416619	chr7:109751780-109751781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557986485	chr7:109751838-109751839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534605233	chr7:109751844-109751845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77460014	chr7:109751856-109751857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184412292	chr7:109751891-109751892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77911386	chr7:109751894-109751895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558720092	chr7:109751910-109751911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569721371	chr7:109751926-109751927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540851171	chr7:109751947-109751948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376026083	chr7:109751999-109752000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554027596	chr7:109752001-109752002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538341198	chr7:109752008-109752009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112403795	chr7:109752030-109752031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113500396	chr7:109752046-109752047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114161851	chr7:109752052-109752053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542984029	chr7:109752089-109752090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527443828	chr7:109752092-109752093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563173432	chr7:109752096-109752097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150664968	chr7:109752114-109752115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544990045	chr7:109752143-109752144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141069795	chr7:109752188-109752189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144906220	chr7:109752210-109752211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147886041	chr7:109752228-109752229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567384847	chr7:109752240-109752241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141563994	chr7:109752280-109752281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149976749	chr7:109752297-109752298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189787627	chr7:109752299-109752300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371765373	chr7:109752318-109752319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558541713	chr7:109752387-109752388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145250096	chr7:109752398-109752399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149154465	chr7:109752414-109752415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573348510	chr7:109752439-109752440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143574435	chr7:109752477-109752478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1404853	chr7:109752480-109752481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536847496	chr7:109752488-109752489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs137998260	chr7:109752499-109752500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141147117	chr7:109752502-109752503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144897059	chr7:109752532-109752533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545026201	chr7:109752621-109752622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564904626	chr7:109752629-109752630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572094222	chr7:109752635-109752636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542578081	chr7:109752735-109752736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138743410	chr7:109752822-109752823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560746271	chr7:109752828-109752829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78591302	chr7:109752862-109752863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141534787	chr7:109752864-109752865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76580746	chr7:109752871-109752872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109739200-109755800	Weak transcription	Dnd41	blood
2	chr7:109755800-109756400	Strong transcription	Dnd41	blood
3	chr7:109756400-109766600	Weak transcription	Dnd41	blood
4	chr7:109758400-109760200	Enhancers	Brain Germinal Matrix	brain
5	chr7:109759400-109759600	Enhancers	Pancreas	Pancrea
6	chr7:109759600-109768000	Weak transcription	Pancreas	Pancrea
7	chr7:109759800-109760200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:109767800-109768400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr7:109767800-109768600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:109768000-109768200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:109768000-109768200	Enhancers	Pancreas	Pancrea
12	chr7:109768000-109768400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:109770400-109770800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:109782800-109783400	Enhancers	Fetal Stomach	stomach
15	chr7:109788200-109789200	ZNF genes & repeats	Pancreas	Pancrea
16	chr7:109788200-109789600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:109788200-109789800	ZNF genes & repeats	Dnd41	blood
18	chr7:109789600-109797600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:109796600-109798600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:109796800-109797200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:109796800-109798000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:109797600-109797800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:109797600-109798000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:109797600-109798200	Enhancers	NHEK	skin
25	chr7:109797600-109798600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:109797600-109798600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:109797600-109799000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:109797800-109799000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:109798000-109798400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:109798000-109798600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:109798400-109799000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:109798600-109798800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr7:109810000-109813000	Enhancers	Fetal Intestine Small	intestine
34	chr7:109810200-109813000	Enhancers	Fetal Intestine Large	intestine
35	chr7:109810400-109810800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:109810600-109811800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:109811000-109811800	Enhancers	Brain Germinal Matrix	brain
38	chr7:109811800-109812600	Weak transcription	Brain Germinal Matrix	brain
39	chr7:109811800-109812800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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