Variant report

Variant	nsv8233
Chromosome Location	chr7:152850690-152854803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:152853415..152855713-chr7:153110034..153111649,2	K562	blood:

Variant related genes	Relation type
ENSG00000234722	chromatin interactions

Extended variants
information (count: 181 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74320569	chr7:152850728-152850729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537650114	chr7:152850737-152850738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556068653	chr7:152850788-152850789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539982225	chr7:152850789-152850790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577855258	chr7:152850792-152850793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538526203	chr7:152850804-152850805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113169030	chr7:152850829-152850830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151274701	chr7:152850835-152850836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562979699	chr7:152850841-152850842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191632683	chr7:152850862-152850863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561842215	chr7:152850915-152850916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77899069	chr7:152850963-152850964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369986736	chr7:152850964-152850965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1589837	chr7:152851035-152851036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1589838	chr7:152851065-152851066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs532863416	chr7:152851068-152851069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1589839	chr7:152851074-152851075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560103936	chr7:152851081-152851082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527281746	chr7:152851083-152851084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182997149	chr7:152851125-152851126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187301024	chr7:152851133-152851134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537686697	chr7:152851142-152851143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191983327	chr7:152851146-152851147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185626361	chr7:152851164-152851165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538932205	chr7:152851192-152851193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190484761	chr7:152851204-152851205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572447277	chr7:152851234-152851235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537490599	chr7:152851239-152851240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140423033	chr7:152851279-152851280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192334191	chr7:152851303-152851304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4358712	chr7:152851307-152851308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs940646	chr7:152851356-152851357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs543906823	chr7:152851357-152851358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565482843	chr7:152851431-152851432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571324638	chr7:152851432-152851433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577327360	chr7:152851439-152851440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541751338	chr7:152851503-152851504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117561256	chr7:152851504-152851505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527313508	chr7:152851507-152851508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143704875	chr7:152851519-152851520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368349222	chr7:152851520-152851521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34281859	chr7:152851548-152851549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377461233	chr7:152851718-152851719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531306136	chr7:152851727-152851728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549423879	chr7:152851741-152851742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2311852	chr7:152851788-152851789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs10238119	chr7:152851789-152851790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs4507680	chr7:152851848-152851849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558472065	chr7:152851895-152851896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565820558	chr7:152851947-152851948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152849800-152852000	Weak transcription	Placenta	Placenta
2	chr7:152850400-152854600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:152852000-152853200	Enhancers	Placenta	Placenta
4	chr7:152854200-152854600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:152854400-152854600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:152854400-152855800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:152854600-152855200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:152854600-152855600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:152854600-152855600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:152854600-152855800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:152854600-152855800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:152854600-152856000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:152854600-152856000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:152854800-152855800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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