Variant report

Variant	esv1000353
Chromosome Location	chr7:97653581-97663618
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:154695219..154695874-chr7:97656418..97657125,2	MCF-7	breast:
2	chr7:97656294..97658783-chr7:97701191..97703989,2	K562	blood:

Extended variants
information (count: 490 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:490 , 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	rs534046926	chr7:97653647-97653648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144901154	chr7:97653665-97653666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535528277	chr7:97653723-97653724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73709069	chr7:97653750-97653751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs113857296	chr7:97653767-97653768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546587583	chr7:97653775-97653776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568408341	chr7:97653789-97653790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs740209	chr7:97653811-97653812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs79163611	chr7:97653812-97653813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191942035	chr7:97653846-97653847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150209260	chr7:97653968-97653969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375064852	chr7:97653969-97653970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113711300	chr7:97653997-97653998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201279138	chr7:97654000-97654001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539979073	chr7:97654018-97654019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558325221	chr7:97654063-97654064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573359085	chr7:97654125-97654126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149245925	chr7:97654137-97654138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562257770	chr7:97654237-97654238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144422809	chr7:97654240-97654241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182908535	chr7:97654251-97654252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187539742	chr7:97654292-97654293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147979649	chr7:97654302-97654303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545498416	chr7:97654317-97654318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs137888930	chr7:97654352-97654353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564267204	chr7:97654358-97654359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369177379	chr7:97654363-97654364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546846364	chr7:97654384-97654385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568242551	chr7:97654436-97654437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143577815	chr7:97654446-97654447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117266486	chr7:97654456-97654457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147161193	chr7:97654490-97654491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539893406	chr7:97654502-97654503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113692515	chr7:97654527-97654528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567017447	chr7:97654531-97654532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557940233	chr7:97654572-97654573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372459805	chr7:97654590-97654591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386716010	chr7:97654594-97654595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1799061	chr7:97654595-97654596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs374235265	chr7:97654599-97654600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544553383	chr7:97654630-97654631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112698564	chr7:97654665-97654666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193248707	chr7:97654691-97654692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574904945	chr7:97654726-97654727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527997757	chr7:97654740-97654741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140540046	chr7:97654749-97654750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528217587	chr7:97654774-97654775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201603077	chr7:97654782-97654783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185707706	chr7:97654806-97654807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113127182	chr7:97654821-97654822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97649200-97668000	Weak transcription	Right Atrium	heart
2	chr7:97653000-97653600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:97661600-97661800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr7:97661800-97662000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:97661800-97663800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:97662400-97663400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:97663400-97663600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:97663400-97663600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:97663400-97663800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:97663400-97663800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:97663400-97664000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:97663400-97664000	Enhancers	Ovary	ovary
13	chr7:97663400-97664000	Enhancers	HMEC	breast
14	chr7:97663400-97664200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:97663400-97664400	Enhancers	NHEK	skin
16	chr7:97663400-97664600	Enhancers	Fetal Brain Male	brain
17	chr7:97663400-97664600	Enhancers	Placenta	Placenta
18	chr7:97663600-97663800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:97663600-97663800	Bivalent Enhancer	Stomach Mucosa	stomach
20	chr7:97663600-97663800	Bivalent Enhancer	HepG2	liver
21	chr7:97663600-97664000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr7:97663600-97664000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:97663600-97664000	Enhancers	Gastric	stomach
24	chr7:97663600-97664400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:97663600-97664400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:97663600-97670000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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