Variant report

Variant	nsv607445
Chromosome Location	chr7:70416237-70425615
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	chr7:70419574..70421906-chr7:70424022..70425559,2	K562	blood:
2	chr7:70419574..70421906-chr7:70424022..70425559,2	K562	blood:

Extended variants
information (count: 287 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1568865	chr7:70416237-70416238	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs61674992	chr7:70416256-70416257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550623442	chr7:70416258-70416259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562352947	chr7:70416261-70416262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78045878	chr7:70416263-70416264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151276998	chr7:70416279-70416280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566470028	chr7:70416292-70416293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533819039	chr7:70416320-70416321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548790524	chr7:70416414-70416415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567424288	chr7:70416428-70416429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537967045	chr7:70416497-70416498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556582660	chr7:70416518-70416519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192078688	chr7:70416519-70416520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184110098	chr7:70416539-70416540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554201539	chr7:70416564-70416565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141598897	chr7:70416597-70416598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60221573	chr7:70416646-70416647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529714736	chr7:70416745-70416746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150049124	chr7:70416747-70416748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552614017	chr7:70416790-70416791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561345818	chr7:70416810-70416811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576546500	chr7:70416815-70416816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543974253	chr7:70416831-70416832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62460371	chr7:70416834-70416835	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs569654102	chr7:70416852-70416853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147048104	chr7:70416877-70416878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4719030	chr7:70416886-70416887	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs368869443	chr7:70416892-70416893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138285959	chr7:70416908-70416909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527600633	chr7:70416929-70416930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55678591	chr7:70416940-70416941	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567356160	chr7:70416946-70416947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57691337	chr7:70416950-70416951	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs4719031	chr7:70416962-70416963	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs60335748	chr7:70416973-70416974	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs539121412	chr7:70417098-70417099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554236345	chr7:70417121-70417122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572444376	chr7:70417128-70417129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2140813	chr7:70417136-70417137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142927120	chr7:70417164-70417165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567671855	chr7:70417165-70417166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58006470	chr7:70417177-70417178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573937835	chr7:70417182-70417183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574813105	chr7:70417208-70417209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11761201	chr7:70417246-70417247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35166934	chr7:70417254-70417255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541455161	chr7:70417291-70417292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147003585	chr7:70417341-70417342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537534962	chr7:70417377-70417378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577344540	chr7:70417401-70417402	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70416200-70416400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr7:70416200-70416400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:70416200-70416600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:70416400-70417600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:70416600-70417400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:70416800-70417600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:70416800-70419600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:70417000-70417600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:70417200-70417600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr7:70417400-70417600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:70417400-70417600	Enhancers	Fetal Muscle Leg	muscle
12	chr7:70417400-70417800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:70417400-70419200	Enhancers	Fetal Intestine Large	intestine
14	chr7:70417600-70417800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:70417600-70418600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:70417600-70418600	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:70417800-70419000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:70418200-70418800	Enhancers	Fetal Kidney	kidney
19	chr7:70418200-70419800	Enhancers	Fetal Stomach	stomach
20	chr7:70418400-70419000	Enhancers	Ovary	ovary
21	chr7:70418600-70419800	Enhancers	Fetal Muscle Leg	muscle
22	chr7:70418800-70419000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:70418800-70419200	Enhancers	Fetal Intestine Small	intestine
24	chr7:70418800-70419200	Weak transcription	Fetal Kidney	kidney
25	chr7:70419200-70419400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:70419200-70419800	Enhancers	Fetal Kidney	kidney
27	chr7:70419800-70421000	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:70421000-70421600	Enhancers	Fetal Muscle Leg	muscle
29	chr7:70421600-70423000	Weak transcription	Fetal Muscle Leg	muscle
30	chr7:70423000-70423200	Enhancers	Fetal Muscle Leg	muscle

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