Variant report

Variant	esv1799735
Chromosome Location	chr7:110338461-110363386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:110357101..110359141-chr7:110411715..110414303,2	K562	blood:
2	chr7:110336994..110339612-chr7:110342328..110344692,2	MCF-7	breast:
3	chr7:110355632..110358711-chr7:110362366..110364869,3	K562	blood:
4	chr7:110355632..110358711-chr7:110362366..110364869,3	K562	blood:
5	chr7:110336994..110339612-chr7:110342328..110344692,2	MCF-7	breast:

Extended variants
information (count: 470 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191101160	chr7:110346210-110346211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs59790782	chr7:110346271-110346272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs548995105	chr7:110346298-110346299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs547923127	chr7:110346299-110346300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs544070929	chr7:110346334-110346335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs182064815	chr7:110346342-110346343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs540077345	chr7:110346346-110346347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs532437354	chr7:110352600-110352601	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs566041614	chr7:110352609-110352610	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs534754262	chr7:110352610-110352611	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs548453053	chr7:110352635-110352636	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs9801147	chr7:110352643-110352644	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs568222004	chr7:110352650-110352651	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs12705724	chr7:110352665-110352666	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs9801349	chr7:110352669-110352670	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs6972665	chr7:110352714-110352715	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs537344807	chr7:110352723-110352724	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs543460821	chr7:110352730-110352731	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs557165127	chr7:110352737-110352738	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs570674062	chr7:110352740-110352741	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs9801152	chr7:110352741-110352742	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs555470028	chr7:110352774-110352775	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs9801150	chr7:110352779-110352780	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs6952905	chr7:110352840-110352841	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs572788411	chr7:110352841-110352842	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs540937904	chr7:110352862-110352863	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs541420025	chr7:110352869-110352870	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs555348459	chr7:110352879-110352880	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs559512314	chr7:110352886-110352887	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs6952923	chr7:110352911-110352912	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs6953061	chr7:110352923-110352924	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs6952931	chr7:110352932-110352933	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs373759911	chr7:110352944-110352945	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs545887643	chr7:110352954-110352955	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs559629168	chr7:110352955-110352956	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs200749153	chr7:110352957-110352958	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs6953382	chr7:110352976-110352977	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs568463721	chr7:110352989-110352990	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs183966442	chr7:110353011-110353012	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375661544	chr7:110353018-110353019	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550927454	chr7:110353029-110353030	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570658310	chr7:110353032-110353033	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112104822	chr7:110353033-110353034	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553142919	chr7:110353034-110353035	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188250602	chr7:110353039-110353040	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535561663	chr7:110353065-110353066	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555032656	chr7:110353076-110353077	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574930213	chr7:110353078-110353079	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181385687	chr7:110353084-110353085	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557276930	chr7:110353090-110353091	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110346200-110346400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:110352600-110353000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:110352600-110353600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr7:110352800-110353400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:110352800-110354600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:110353000-110353600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:110353000-110355800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:110353600-110356400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:110353600-110358800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:110354600-110356200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:110355800-110356400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:110355800-110357000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:110355800-110358400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:110356000-110357200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:110356200-110357000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:110356400-110356600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:110356400-110356800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr7:110356400-110357800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:110356600-110357600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:110356800-110358800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:110357000-110357400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:110357000-110357400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:110357200-110357600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:110357400-110360800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:110357400-110361000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:110357600-110358200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:110357600-110361000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:110357800-110358400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:110357800-110359200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr7:110357800-110360600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr7:110358000-110360400	Enhancers	Fetal Brain Male	brain
32	chr7:110358200-110358600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr7:110358200-110360000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr7:110358400-110358800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr7:110358400-110359000	Enhancers	Fetal Heart	heart
36	chr7:110358400-110359200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr7:110358600-110359000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:110358600-110360400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:110358800-110359400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr7:110358800-110359400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:110358800-110359400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:110358800-110359800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr7:110359000-110365000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:110359200-110359400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr7:110359200-110360800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr7:110359400-110359600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:110359400-110359800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr7:110359400-110362800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr7:110359600-110360400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:110361200-110361400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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