Variant report

Variant	esv1838607
Chromosome Location	chr7:3606640-3618361
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:3610768..3613073-chr7:3628327..3630622,2	MCF-7	breast:
2	chr7:3608810..3611760-chr7:3613102..3614702,2	MCF-7	breast:
3	chr7:3608810..3611760-chr7:3613102..3614702,2	MCF-7	breast:
4	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:
5	chr7:3609002..3610756-chr7:3616407..3619133,2	MCF-7	breast:
6	chr7:3609002..3610756-chr7:3616407..3619133,2	MCF-7	breast:

Extended variants
information (count: 799 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:799 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9791974	chr7:3606640-3606641	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531023164	chr7:3606668-3606669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184353561	chr7:3606674-3606675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528913490	chr7:3606700-3606701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190616811	chr7:3606714-3606715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568486663	chr7:3606774-3606775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531519878	chr7:3606799-3606800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182287642	chr7:3606810-3606811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571381712	chr7:3606813-3606814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533988469	chr7:3606814-3606815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553233864	chr7:3606821-3606822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145166729	chr7:3606827-3606828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535923107	chr7:3606830-3606831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555812099	chr7:3606842-3606843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386709469	chr7:3606896-3606897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs67199766	chr7:3606897-3606898	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186022825	chr7:3606900-3606901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147582759	chr7:3606906-3606907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574725594	chr7:3606912-3606913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142007812	chr7:3606913-3606914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377215260	chr7:3606919-3606920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560432164	chr7:3606920-3606921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571186397	chr7:3606922-3606923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370370440	chr7:3606923-3606924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189193286	chr7:3606927-3606928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150085342	chr7:3606933-3606934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541643019	chr7:3606963-3606964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181677908	chr7:3606965-3606966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368607115	chr7:3606969-3606970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538911653	chr7:3606973-3606974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562182532	chr7:3606986-3606987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149540791	chr7:3607028-3607029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531188265	chr7:3607069-3607070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371637373	chr7:3607079-3607080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370906476	chr7:3607086-3607087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551433570	chr7:3607096-3607097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114809231	chr7:3607121-3607122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563470133	chr7:3607126-3607127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145636089	chr7:3607137-3607138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112392956	chr7:3607171-3607172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567432772	chr7:3607181-3607182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185576645	chr7:3607190-3607191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555875474	chr7:3607361-3607362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569317533	chr7:3607378-3607379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538226827	chr7:3607393-3607394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557824130	chr7:3607395-3607396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578196926	chr7:3607398-3607399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191228596	chr7:3607446-3607447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553963566	chr7:3607448-3607449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573883514	chr7:3607465-3607466	Enhancers Weak transcription	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3600600-3616600	Weak transcription	Gastric	stomach
2	chr7:3605200-3609000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:3606600-3607200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:3606800-3607200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:3607200-3612400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:3607400-3607800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:3607800-3608800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:3608000-3612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:3608800-3609200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:3608800-3610400	Enhancers	HepG2	liver
11	chr7:3609000-3609800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:3609000-3610000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:3609000-3610200	Enhancers	Pancreas	Pancrea
14	chr7:3609200-3614000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:3610000-3612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:3610200-3615800	Weak transcription	Pancreas	Pancrea
17	chr7:3610400-3614400	Weak transcription	HepG2	liver
18	chr7:3612000-3612400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr7:3612200-3613400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:3612400-3613400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:3612400-3617000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:3612600-3613400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:3612600-3614000	Enhancers	Stomach Mucosa	stomach
24	chr7:3612800-3613200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:3612800-3613400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr7:3612800-3613400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:3612800-3613600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:3612800-3613800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:3613000-3613800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:3613200-3625200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:3613800-3615800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:3614000-3614400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:3614000-3614400	Weak transcription	Stomach Mucosa	stomach
34	chr7:3614400-3616400	Enhancers	HepG2	liver
35	chr7:3614400-3616600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:3614400-3617000	Enhancers	Stomach Mucosa	stomach
37	chr7:3614800-3615000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr7:3615600-3616000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr7:3615800-3616000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:3615800-3617200	Enhancers	Pancreas	Pancrea
41	chr7:3616600-3617000	ZNF genes & repeats	Gastric	stomach
42	chr7:3616600-3617200	ZNF genes & repeats	Aorta	Aorta
43	chr7:3616600-3617600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:3617000-3619200	Weak transcription	Stomach Mucosa	stomach
45	chr7:3617200-3620400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:3617200-3622600	Weak transcription	Pancreas	Pancrea
47	chr7:3617400-3618200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr7:3617400-3622600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:3617600-3630400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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