Variant report

Variant	nsv606244
Chromosome Location	chr7:13024467-13028974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13011583..13014531-chr7:13023994..13025631,2	MCF-7	breast:
2	chr7:13023717..13025887-chr7:13027646..13029322,2	K562	blood:
3	chr7:12997660..13000139-chr7:13023304..13026150,2	MCF-7	breast:
4	chr7:13023717..13025887-chr7:13027646..13029322,2	K562	blood:
5	chr7:13015931..13018099-chr7:13026528..13028162,2	K562	blood:
6	chr7:13000222..13002006-chr7:13022745..13025584,2	K562	blood:
7	chr7:13021586..13023198-chr7:13026408..13028122,2	K562	blood:

Extended variants
information (count: 194 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:194 , 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	rs12699436	chr7:13024467-13024468	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555478532	chr7:13024471-13024472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368828662	chr7:13024517-13024518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572375505	chr7:13024521-13024522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541551107	chr7:13024544-13024545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150777779	chr7:13024545-13024546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188034477	chr7:13024604-13024605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544079089	chr7:13024653-13024654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201368574	chr7:13024700-13024701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76059992	chr7:13024701-13024702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191269101	chr7:13024709-13024710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539622475	chr7:13024743-13024744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139178039	chr7:13024754-13024755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183384798	chr7:13024763-13024764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559109402	chr7:13024804-13024805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111704586	chr7:13024814-13024815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371527705	chr7:13024831-13024832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555764447	chr7:13024835-13024836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528043898	chr7:13024872-13024873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570046287	chr7:13024905-13024906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187785057	chr7:13024936-13024937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192220827	chr7:13024944-13024945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6979666	chr7:13024957-13024958	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550370345	chr7:13024973-13024974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6979683	chr7:13024977-13024978	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536175938	chr7:13024983-13024984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553196073	chr7:13024991-13024992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566635328	chr7:13024999-13025000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74709749	chr7:13025001-13025002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558182824	chr7:13025017-13025018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111773677	chr7:13025052-13025053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572418038	chr7:13025061-13025062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543897842	chr7:13025069-13025070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557276232	chr7:13025095-13025096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560479654	chr7:13025114-13025115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371686314	chr7:13025141-13025142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534955783	chr7:13025242-13025243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558005132	chr7:13025243-13025244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574151314	chr7:13025264-13025265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149957952	chr7:13025273-13025274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78790478	chr7:13025280-13025281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528756315	chr7:13025293-13025294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184640753	chr7:13025305-13025306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570948225	chr7:13025328-13025329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188362956	chr7:13025356-13025357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146531296	chr7:13025395-13025396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550619569	chr7:13025410-13025411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192990751	chr7:13025463-13025464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543599746	chr7:13025500-13025501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529930645	chr7:13025593-13025594	Weak transcription Enhancers	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13020000-13027000	Weak transcription	A549	lung
2	chr7:13021600-13025000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:13021600-13025200	Enhancers	Liver	Liver
4	chr7:13023200-13025000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:13023800-13024800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:13023800-13024800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:13024400-13025200	Enhancers	HepG2	liver
8	chr7:13024400-13027400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:13024800-13025000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:13024800-13025200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:13024800-13025200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:13024800-13025200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:13024800-13025200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr7:13024800-13025200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:13024800-13025200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:13024800-13025200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:13024800-13025200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr7:13024800-13025200	Enhancers	Gastric	stomach
19	chr7:13024800-13025200	Enhancers	Pancreas	Pancrea
20	chr7:13024800-13025200	Enhancers	K562	blood
21	chr7:13024800-13026000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:13024800-13026400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:13024800-13027200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:13024800-13027200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:13025000-13025200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:13025000-13025800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr7:13025000-13027000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:13025200-13026200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:13025200-13026400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:13025200-13027800	Weak transcription	Pancreas	Pancrea
31	chr7:13025200-13029000	Weak transcription	Liver	Liver
32	chr7:13025400-13025800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:13026000-13026400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:13026200-13027400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:13026400-13027200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:13026600-13026800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:13026800-13027000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr7:13026800-13027000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:13027000-13027200	Enhancers	Small Intestine	intestine
40	chr7:13027000-13027400	Enhancers	A549	lung
41	chr7:13027400-13029000	Weak transcription	A549	lung
42	chr7:13027800-13028200	Enhancers	Pancreas	Pancrea
43	chr7:13028800-13029400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:13028800-13029400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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