Variant report

Variant	nsv887658
Chromosome Location	chr7:13275578-13297072
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13277363..13280042-chr7:13283075..13284729,2	K562	blood:
2	chr7:12728492..12730623-chr7:13283814..13286718,2	K562	blood:
3	chr7:13277363..13280042-chr7:13283075..13284729,2	K562	blood:
4	chr7:12726407..12728675-chr7:13293795..13296695,2	K562	blood:
5	chr7:13234533..13236633-chr7:13288975..13291281,2	K562	blood:

Variant related genes	Relation type
ENSG00000122644	chromatin interactions

Extended variants
information (count: 392 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17166921	chr7:13275578-13275579	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185975954	chr7:13275587-13275588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548279741	chr7:13275616-13275617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561782384	chr7:13275641-13275642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546571901	chr7:13275644-13275645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527242797	chr7:13275670-13275671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115345557	chr7:13275684-13275685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566159395	chr7:13275689-13275690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570401128	chr7:13275712-13275713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539712371	chr7:13275722-13275723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549844076	chr7:13275767-13275768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138499247	chr7:13275771-13275772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535291381	chr7:13275776-13275777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116302041	chr7:13275782-13275783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28493823	chr7:13275789-13275790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs568813000	chr7:13275794-13275795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534070696	chr7:13275801-13275802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144056111	chr7:13275829-13275830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76611621	chr7:13275891-13275892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546453336	chr7:13275906-13275907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190560685	chr7:13275931-13275932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181389695	chr7:13275975-13275976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186326366	chr7:13275982-13275983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542452436	chr7:13275996-13275997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561719350	chr7:13276016-13276017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs16877758	chr7:13276052-13276053	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs10488256	chr7:13276061-13276062	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564095488	chr7:13276068-13276069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532819518	chr7:13276090-13276091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13227738	chr7:13276093-13276094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs569870150	chr7:13276119-13276120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7806310	chr7:13276128-13276129	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs147331062	chr7:13276163-13276164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12699458	chr7:13276189-13276190	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs577406528	chr7:13276230-13276231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554001181	chr7:13276232-13276233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs137859470	chr7:13276237-13276238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539862644	chr7:13276310-13276311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546389706	chr7:13276311-13276312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191225950	chr7:13276340-13276341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367896616	chr7:13276368-13276369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576812239	chr7:13276376-13276377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182363172	chr7:13276396-13276397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115395429	chr7:13276409-13276410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141635873	chr7:13276410-13276411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541108431	chr7:13276416-13276417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12699459	chr7:13276439-13276440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs12699460	chr7:13276444-13276445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs111857473	chr7:13276456-13276457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12699461	chr7:13276497-13276498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13273600-13276200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:13274600-13276200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:13274600-13276400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:13275200-13276400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:13275400-13276400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:13275600-13276000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:13275600-13276000	Enhancers	Adipose Nuclei	Adipose
8	chr7:13276200-13279800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:13276200-13279800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:13279000-13279800	Enhancers	A549	lung
11	chr7:13279800-13280200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:13279800-13280200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:13279800-13280200	Enhancers	NH-A	brain
14	chr7:13279800-13280400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:13279800-13280400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:13279800-13280400	Flanking Active TSS	A549	lung
17	chr7:13279800-13280600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:13280000-13280400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr7:13280000-13280400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:13280000-13280400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:13280000-13280400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:13280400-13280600	Enhancers	A549	lung

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