Variant report

Variant	esv12720
Chromosome Location	chr7:3723272-3737147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:3727791..3730295-chr7:3732130..3734302,2	MCF-7	breast:
2	chr7:3734945..3735889-chr7:3936899..3937757,3	MCF-7	breast:
3	chr7:3726774..3729602-chr7:3732139..3735055,2	K562	blood:
4	chr7:3727791..3730295-chr7:3732130..3734302,2	MCF-7	breast:
5	chr7:3727225..3728784-chr7:3739798..3742268,2	K562	blood:
6	chr7:3726774..3729602-chr7:3732139..3735055,2	K562	blood:

Extended variants
information (count: 898 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:898 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1864839	chr7:3723276-3723277	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566010671	chr7:3723283-3723284	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs535030297	chr7:3723303-3723304	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs116450360	chr7:3723328-3723329	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs376818876	chr7:3723334-3723335	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs186633407	chr7:3723339-3723340	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs375450319	chr7:3723363-3723364	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs537504446	chr7:3723395-3723396	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs115909535	chr7:3723396-3723397	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs117141027	chr7:3723407-3723408	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs74755788	chr7:3723409-3723410	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs544077992	chr7:3723413-3723414	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs12537047	chr7:3723417-3723418	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs35326426	chr7:3723424-3723425	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs114204085	chr7:3723435-3723436	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs115300967	chr7:3723444-3723445	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs561628333	chr7:3723451-3723452	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs191867064	chr7:3723455-3723456	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs182966243	chr7:3723463-3723464	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs564042400	chr7:3723471-3723472	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs547987123	chr7:3723481-3723482	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs570366154	chr7:3723486-3723487	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs552349634	chr7:3723491-3723492	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs535226962	chr7:3723493-3723494	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs140515832	chr7:3723507-3723508	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs375476912	chr7:3723512-3723513	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs145685333	chr7:3723531-3723532	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs138263098	chr7:3723546-3723547	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs187187223	chr7:3723555-3723556	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs73300288	chr7:3723562-3723563	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs191197368	chr7:3723566-3723567	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs539989313	chr7:3723568-3723569	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs528595107	chr7:3723574-3723575	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs372223530	chr7:3723604-3723605	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs371773620	chr7:3723620-3723621	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs386709489	chr7:3723651-3723652	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs930202	chr7:3723653-3723654	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs116668616	chr7:3723661-3723662	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs142715386	chr7:3723672-3723673	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs16870902	chr7:3723676-3723677	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs182311812	chr7:3723677-3723678	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs564154743	chr7:3723683-3723684	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs539083152	chr7:3723695-3723696	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs532854764	chr7:3723714-3723715	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs539948582	chr7:3723732-3723733	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs139001158	chr7:3723767-3723768	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs930201	chr7:3723786-3723787	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs548436023	chr7:3723822-3723823	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs186718965	chr7:3723828-3723829	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs563693976	chr7:3723882-3723883	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3688800-3728400	Weak transcription	Aorta	Aorta
2	chr7:3704000-3723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:3708600-3723600	Weak transcription	Stomach Mucosa	stomach
4	chr7:3711800-3723600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:3721200-3723400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:3721800-3724200	Enhancers	Fetal Intestine Small	intestine
7	chr7:3721800-3724400	Enhancers	Fetal Intestine Large	intestine
8	chr7:3722200-3723400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:3722200-3723600	Weak transcription	Gastric	stomach
10	chr7:3722200-3723600	Weak transcription	Spleen	Spleen
11	chr7:3722200-3738000	Weak transcription	Pancreas	Pancrea
12	chr7:3722400-3725400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:3722800-3724400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:3722800-3724400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:3723000-3724200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:3723000-3728600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:3723200-3723400	Enhancers	Fetal Kidney	kidney
18	chr7:3723200-3724000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:3723200-3724000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:3723200-3724000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr7:3723200-3724000	Flanking Active TSS	HepG2	liver
22	chr7:3723200-3724200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:3723200-3724200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:3723200-3724200	Enhancers	Duodenum Mucosa	Duodenum
25	chr7:3723200-3724200	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr7:3723200-3724400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr7:3723200-3724600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:3723200-3724600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:3723200-3724800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr7:3723400-3724200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr7:3723400-3724200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:3723600-3723800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:3723600-3723800	ZNF genes & repeats	Gastric	stomach
34	chr7:3723600-3723800	ZNF genes & repeats	Spleen	Spleen
35	chr7:3723600-3724000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:3723600-3724000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:3723600-3724200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:3723600-3724200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:3723800-3724000	Enhancers	Esophagus	oesophagus
40	chr7:3723800-3724000	Enhancers	Stomach Mucosa	stomach
41	chr7:3723800-3724400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr7:3724000-3724200	Enhancers	Fetal Kidney	kidney
43	chr7:3724000-3724400	Enhancers	HepG2	liver
44	chr7:3724000-3728400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:3724200-3731000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:3724400-3727600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:3724800-3731000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:3727600-3728000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr7:3728000-3731000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:3728200-3728600	ZNF genes & repeats	Fetal Lung	lung

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