Variant report

Variant	nsv971170
Chromosome Location	chr7:38071251-38078396
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	chr7:38076665..38079427-chr7:38081787..38084497,2	K562	blood:

Extended variants
information (count: 117 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536376994	chr7:38071264-38071265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149401142	chr7:38071339-38071340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189757848	chr7:38071340-38071341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182370566	chr7:38071344-38071345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566764511	chr7:38071346-38071347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538844522	chr7:38071375-38071376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566344802	chr7:38071412-38071413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17171268	chr7:38071457-38071458	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575860977	chr7:38071458-38071459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375319233	chr7:38071544-38071545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71734555	chr7:38071553-38071554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367921529	chr7:38071559-38071560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554943779	chr7:38071574-38071575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187041954	chr7:38071581-38071582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540367805	chr7:38071599-38071600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192327093	chr7:38071626-38071627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370613477	chr7:38071673-38071674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576398710	chr7:38071681-38071682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138664665	chr7:38071682-38071683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28427510	chr7:38071710-38071711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183230932	chr7:38071720-38071721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112963064	chr7:38071723-38071724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1721396	chr7:38071732-38071733	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548442721	chr7:38071751-38071752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368348952	chr7:38071759-38071760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567357684	chr7:38071820-38071821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150435910	chr7:38071827-38071828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1717729	chr7:38071829-38071830	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192249467	chr7:38071894-38071895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76518393	chr7:38071909-38071910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566628487	chr7:38071914-38071915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376241724	chr7:38071994-38071995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538708997	chr7:38072006-38072007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7782762	chr7:38072022-38072023	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs148890913	chr7:38072039-38072040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140362942	chr7:38072049-38072050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112410192	chr7:38072086-38072087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538188677	chr7:38072101-38072102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540043215	chr7:38072116-38072117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12672796	chr7:38072195-38072196	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs182466786	chr7:38072200-38072201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533770278	chr7:38072222-38072223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372439473	chr7:38072274-38072275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553762253	chr7:38072299-38072300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577028902	chr7:38072308-38072309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545853430	chr7:38072396-38072397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562569384	chr7:38072419-38072420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374952403	chr7:38072427-38072428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541799687	chr7:38072467-38072468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115240485	chr7:38072483-38072484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38070600-38071400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr7:38070600-38072000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:38070800-38071400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr7:38070800-38071400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:38070800-38071400	Enhancers	Stomach Mucosa	stomach
6	chr7:38071200-38072600	Enhancers	Ovary	ovary
7	chr7:38072000-38073800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:38073800-38074000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr7:38073800-38074400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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