Variant report

Variant	nsv1017308
Chromosome Location	chr7:15047280-15074656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:15046835..15047773-chr7:15055487..15056275,2	MCF-7	breast:
2	chr7:15058053..15060763-chr7:15070842..15072885,2	K562	blood:
3	chr7:14756304..14757028-chr7:15055834..15056611,2	MCF-7	breast:
4	chr7:15058053..15060763-chr7:15070842..15072885,2	K562	blood:
5	chr7:14737644..14738448-chr7:15055761..15056392,2	MCF-7	breast:
6	chr7:14757467..14758291-chr7:15055705..15056411,2	MCF-7	breast:
7	chr7:15046835..15047773-chr7:15055487..15056275,2	MCF-7	breast:
8	chr7:13317591..13319993-chr7:15056107..15057980,2	K562	blood:
9	chr7:14757081..14758001-chr7:15054605..15056087,5	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006035.2-9	chr7:15072357-15072662	NONHSAT119273
2	lnc-AC006035.2-9	chr7:15074455-15074801	NONHSAT119273

No data

Extended variants
information (count: 1408 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1408 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4719430	chr7:15047280-15047281	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377634580	chr7:15047294-15047295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374403313	chr7:15047300-15047301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563652816	chr7:15047308-15047309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573218828	chr7:15047315-15047316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545248532	chr7:15047319-15047320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150665127	chr7:15047367-15047368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368017220	chr7:15047370-15047371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115894958	chr7:15047388-15047389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143542676	chr7:15047391-15047392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544785954	chr7:15047400-15047401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186157798	chr7:15047423-15047424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370303583	chr7:15047424-15047425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573888095	chr7:15047436-15047437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374796030	chr7:15047441-15047442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367593068	chr7:15047445-15047446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575421896	chr7:15047464-15047465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146790956	chr7:15047483-15047484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139590973	chr7:15047499-15047500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532453156	chr7:15047517-15047518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552461462	chr7:15047526-15047527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544386878	chr7:15047529-15047530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537697955	chr7:15047621-15047622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144322972	chr7:15047632-15047633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7784091	chr7:15047637-15047638	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs188420954	chr7:15047723-15047724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375786803	chr7:15047737-15047738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570071569	chr7:15047767-15047768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539035935	chr7:15047789-15047790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79709916	chr7:15047831-15047832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575869959	chr7:15047865-15047866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115073184	chr7:15047881-15047882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555111331	chr7:15047888-15047889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73292455	chr7:15048015-15048016	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs540683760	chr7:15048059-15048060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115947216	chr7:15048061-15048062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181186263	chr7:15048063-15048064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532590938	chr7:15048067-15048068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10243242	chr7:15048069-15048070	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs10243265	chr7:15048107-15048108	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs376976683	chr7:15048123-15048124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531622214	chr7:15048140-15048141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532281325	chr7:15048143-15048144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149202310	chr7:15048195-15048196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374392285	chr7:15048249-15048250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568219771	chr7:15048252-15048253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115792031	chr7:15048253-15048254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28687634	chr7:15048262-15048263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs570206490	chr7:15048273-15048274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539072616	chr7:15048279-15048280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Pleomorphic liposarcoma	18784837	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
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15047000-15048200	Enhancers	Liver	Liver
2	chr7:15047400-15047600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:15047600-15055000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:15049400-15049600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:15049600-15055000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:15050600-15051000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:15050600-15051600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:15050800-15051200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr7:15050800-15051200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:15050800-15051800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:15050800-15052000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr7:15051000-15051400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:15051000-15051800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:15051200-15051600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:15051200-15051600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:15051200-15052800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:15051200-15054800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:15051400-15051600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:15051600-15052200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr7:15051600-15052200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr7:15051600-15054400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:15051600-15054800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:15051600-15054800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:15051600-15055000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:15051800-15052200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:15051800-15055000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:15051800-15055000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:15052000-15052200	Enhancers	Right Ventricle	heart
29	chr7:15052000-15055000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:15052200-15052400	Enhancers	Left Ventricle	heart
31	chr7:15052200-15054200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr7:15052200-15055000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:15052200-15055200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:15052200-15055200	Weak transcription	Right Ventricle	heart
35	chr7:15052800-15055000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:15054000-15054200	Enhancers	Psoas Muscle	Psoas
37	chr7:15054200-15054400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr7:15054400-15054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:15054400-15055000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr7:15054800-15055000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr7:15054800-15055000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr7:15054800-15055000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr7:15054800-15055200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr7:15055000-15055200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr7:15055000-15055200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr7:15055000-15055200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:15055000-15055200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
48	chr7:15055000-15055200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr7:15055000-15055200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr7:15055000-15055200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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