Variant report

Variant	esv2758103
Chromosome Location	chr7:11927239-12109419
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12106833..12107747-chr7:12331137..12332178,5	MCF-7	breast:
2	chr7:12105122..12108116-chr7:12108941..12111008,2	K562	blood:
3	chr7:12106923..12107696-chr7:12361667..12362587,3	MCF-7	breast:
4	chr7:12106801..12107705-chr7:12283495..12284419,3	MCF-7	breast:
5	chr7:11961967..11964021-chr7:11967210..11969257,2	K562	blood:
6	chr7:12105122..12108116-chr7:12108941..12111008,2	K562	blood:
7	chr7:11961967..11964021-chr7:11967210..11969257,2	K562	blood:

Extended variants
information (count: 3829 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:3829 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11771848	chr7:11927254-11927255	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538227125	chr7:11927273-11927274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554687040	chr7:11927274-11927275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531735111	chr7:11927300-11927301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183638550	chr7:11927315-11927316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533987889	chr7:11927361-11927362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552764901	chr7:11927374-11927375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139183740	chr7:11927393-11927394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546993037	chr7:11927642-11927643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10277256	chr7:11927672-11927673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141823344	chr7:11927710-11927711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539021009	chr7:11927711-11927712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11772691	chr7:11927729-11927730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139948272	chr7:11927756-11927757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143429252	chr7:11927758-11927759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569371021	chr7:11927759-11927760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146241212	chr7:11927780-11927781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10277171	chr7:11927782-11927783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs117365002	chr7:11927820-11927821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558627680	chr7:11927828-11927829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367576018	chr7:11927832-11927833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6957533	chr7:11927846-11927847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs6957668	chr7:11927862-11927863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553236538	chr7:11927890-11927891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190356242	chr7:11927893-11927894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574459086	chr7:11927908-11927909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540359546	chr7:11927935-11927936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10277646	chr7:11927937-11927938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181263039	chr7:11927950-11927951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546377721	chr7:11927960-11927961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373671862	chr7:11927966-11927967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35280109	chr7:11927986-11927987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562897157	chr7:11928018-11928019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532047320	chr7:11928020-11928021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548445408	chr7:11928035-11928036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568142584	chr7:11928046-11928047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527662584	chr7:11928066-11928067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6957849	chr7:11928067-11928068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs6958238	chr7:11928081-11928082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs139239082	chr7:11928127-11928128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11983254	chr7:11928138-11928139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs568926620	chr7:11928144-11928145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10277929	chr7:11928152-11928153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185854437	chr7:11928155-11928156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11983257	chr7:11928161-11928162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190279948	chr7:11928188-11928189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553441065	chr7:11928219-11928220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10234369	chr7:11928235-11928236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs185387900	chr7:11928237-11928238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10277831	chr7:11928242-11928243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11927200-11927400	Enhancers	H1 Cell Line	embryonic stem cell
2	chr7:11927600-11930800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:11927600-11931800	Weak transcription	Pancreas	Pancrea
4	chr7:11930800-11931600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr7:11931600-11932600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:11931800-11932000	ZNF genes & repeats	Pancreas	Pancrea
7	chr7:11932600-11933000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:11934600-11935200	Enhancers	Fetal Brain Female	brain
9	chr7:11935400-11936200	Enhancers	Fetal Brain Male	brain
10	chr7:11935800-11936800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:11936200-11936800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:11936800-11937200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:11937200-11937400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:11937400-11940200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:11940000-11941000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:11940200-11941200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:11940600-11941000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr7:11940600-11941200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:11940800-11941200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:11950000-11950800	Enhancers	Hela-S3	cervix
21	chr7:11951200-11951800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:11951200-11952400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:11951400-11951800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:11951400-11951800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr7:11951400-11951800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:11951400-11952000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:11951400-11952000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:11951400-11952200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:11951600-11952000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:11951600-11952000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr7:11969800-11971400	Enhancers	Hela-S3	cervix
32	chr7:11971000-11971800	Active TSS	A549	lung
33	chr7:11975800-11976200	Enhancers	Fetal Lung	lung
34	chr7:11989200-11989800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:11989400-11989600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:11989400-11989600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:11989400-11989600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:11989400-11989800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:11989400-11990200	ZNF genes & repeats	Pancreas	Pancrea
40	chr7:11989600-11997200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:11989800-11990000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:11989800-11990600	Enhancers	Placenta	Placenta
43	chr7:11989800-11991200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:11990400-11990800	Weak transcription	Pancreas	Pancrea
45	chr7:11990400-11991000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr7:11991000-11991400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:11991400-11991800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr7:11995600-11997200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:11997200-11997400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr7:11997400-11997600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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