Variant report

Variant	esv1800598
Chromosome Location	chr7:4081790-4088555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4082285..4084220-chr7:4087738..4090486,2	K562	blood:
2	chr7:4088154..4090375-chr7:4090451..4092964,2	MCF-7	breast:
3	chr7:4082285..4084220-chr7:4087738..4090486,2	K562	blood:

Extended variants
information (count: 371 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:371 , 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	rs386709525	chr7:4081790-4081791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7805307	chr7:4081791-4081792	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531278805	chr7:4081805-4081806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551271517	chr7:4081813-4081814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145514875	chr7:4081831-4081832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571080552	chr7:4081834-4081835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576386449	chr7:4081841-4081842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537474093	chr7:4081892-4081893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7786018	chr7:4081955-4081956	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546942660	chr7:4081962-4081963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542721541	chr7:4081974-4081975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113398871	chr7:4082051-4082052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374009137	chr7:4082066-4082067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7787305	chr7:4082070-4082071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs367854000	chr7:4082075-4082076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7805800	chr7:4082095-4082096	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs575094126	chr7:4082126-4082127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537777919	chr7:4082185-4082186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557614583	chr7:4082198-4082199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577481930	chr7:4082199-4082200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112061615	chr7:4082261-4082262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61489118	chr7:4082271-4082272	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs386709526	chr7:4082295-4082296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148790212	chr7:4082296-4082297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74983042	chr7:4082315-4082316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141725110	chr7:4082319-4082320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562169562	chr7:4082324-4082325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534828629	chr7:4082439-4082440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17134269	chr7:4082465-4082466	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150861152	chr7:4082472-4082473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564789464	chr7:4082476-4082477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577659857	chr7:4082482-4082483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544812494	chr7:4082489-4082490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139315909	chr7:4082505-4082506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563275202	chr7:4082510-4082511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76526309	chr7:4082541-4082542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs57367972	chr7:4082545-4082546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs549435822	chr7:4082564-4082565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184971569	chr7:4082568-4082569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs57171458	chr7:4082591-4082592	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs557502577	chr7:4082600-4082601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571216722	chr7:4082605-4082606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566276989	chr7:4082638-4082639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78294477	chr7:4082641-4082642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553534846	chr7:4082656-4082657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528373613	chr7:4082670-4082671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs67543459	chr7:4082725-4082726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542388863	chr7:4082739-4082740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556237121	chr7:4082743-4082744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576176787	chr7:4082745-4082746	Weak transcription Enhancers	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
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
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4059000-4091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:4066800-4082000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:4066800-4087200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:4066800-4091200	Weak transcription	Pancreas	Pancrea
5	chr7:4077800-4087800	Weak transcription	Spleen	Spleen
6	chr7:4078000-4091200	Weak transcription	Aorta	Aorta
7	chr7:4079600-4083800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:4080200-4082000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:4080200-4083800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:4080200-4083800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:4080200-4083800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:4080600-4084000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr7:4080800-4082200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:4080800-4083200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:4081400-4081800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:4081400-4082200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:4081400-4082200	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:4081400-4082600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:4081600-4082000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:4081800-4082600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:4082000-4082400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:4082000-4082400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:4082000-4082400	Enhancers	Fetal Muscle Trunk	muscle
24	chr7:4082000-4083400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:4082000-4084000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:4082200-4082400	Enhancers	NH-A	brain
27	chr7:4082200-4082800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:4082200-4082800	Enhancers	Esophagus	oesophagus
29	chr7:4082200-4082800	Enhancers	Fetal Muscle Leg	muscle
30	chr7:4082200-4083400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:4082200-4083600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:4082400-4089800	Weak transcription	Fetal Stomach	stomach
33	chr7:4082400-4091200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr7:4082600-4084000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:4082800-4097000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:4083600-4084800	Enhancers	Primary B cells from peripheral blood	blood
37	chr7:4083800-4084000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr7:4083800-4087400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:4084000-4087800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:4084000-4092800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:4087200-4087400	Active TSS	Gastric	stomach
42	chr7:4087200-4089400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:4087400-4087600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:4087400-4096600	Weak transcription	Gastric	stomach
45	chr7:4087600-4111800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:4087800-4088400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:4087800-4088400	ZNF genes & repeats	Spleen	Spleen
48	chr7:4088400-4089000	Weak transcription	Spleen	Spleen

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