Variant report

Variant	nsv606246
Chromosome Location	chr7:13026143-13028504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13015931..13018099-chr7:13026528..13028162,2	K562	blood:
2	chr7:12997660..13000139-chr7:13023304..13026150,2	MCF-7	breast:
3	chr7:13023717..13025887-chr7:13027646..13029322,2	K562	blood:
4	chr7:13021586..13023198-chr7:13026408..13028122,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184753959	chr7:13026149-13026150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148960352	chr7:13026178-13026179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550000206	chr7:13026207-13026208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532453448	chr7:13026228-13026229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552473644	chr7:13026241-13026242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75887456	chr7:13026284-13026285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17166563	chr7:13026313-13026314	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143744353	chr7:13026416-13026417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11764702	chr7:13026426-13026427	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553533449	chr7:13026484-13026485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534681526	chr7:13026503-13026504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73678939	chr7:13026538-13026539	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs538960410	chr7:13026563-13026564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558855989	chr7:13026590-13026591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577827617	chr7:13026608-13026609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575507297	chr7:13026652-13026653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189447684	chr7:13026654-13026655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560715552	chr7:13026668-13026669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75313331	chr7:13026712-13026713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4721172	chr7:13026715-13026716	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181821999	chr7:13026741-13026742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187167844	chr7:13026756-13026757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577912417	chr7:13026766-13026767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141073628	chr7:13026871-13026872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552386829	chr7:13026927-13026928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191551828	chr7:13026994-13026995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531505211	chr7:13026997-13026998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550962461	chr7:13027007-13027008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139395235	chr7:13027014-13027015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530232565	chr7:13027022-13027023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546653953	chr7:13027035-13027036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368634367	chr7:13027036-13027037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538872374	chr7:13027045-13027046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558719931	chr7:13027057-13027058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181409749	chr7:13027110-13027111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538119064	chr7:13027153-13027154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145798063	chr7:13027182-13027183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574326399	chr7:13027208-13027209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77367631	chr7:13027211-13027212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553944510	chr7:13027230-13027231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4721173	chr7:13027260-13027261	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs11761318	chr7:13027276-13027277	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs34149370	chr7:13027283-13027284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186170753	chr7:13027351-13027352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561631951	chr7:13027354-13027355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562632275	chr7:13027365-13027366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189939657	chr7:13027374-13027375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541729744	chr7:13027420-13027421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561800069	chr7:13027459-13027460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182147153	chr7:13027485-13027486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
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
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
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13020000-13027000	Weak transcription	A549	lung
2	chr7:13024400-13027400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:13024800-13026400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr7:13024800-13027200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:13024800-13027200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:13025000-13027000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:13025200-13026200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:13025200-13026400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:13025200-13027800	Weak transcription	Pancreas	Pancrea
10	chr7:13025200-13029000	Weak transcription	Liver	Liver
11	chr7:13026000-13026400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:13026200-13027400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:13026400-13027200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:13026600-13026800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:13026800-13027000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr7:13026800-13027000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:13027000-13027200	Enhancers	Small Intestine	intestine
18	chr7:13027000-13027400	Enhancers	A549	lung
19	chr7:13027400-13029000	Weak transcription	A549	lung
20	chr7:13027800-13028200	Enhancers	Pancreas	Pancrea

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