Variant report

Variant	esv3380001
Chromosome Location	chr7:147539069-147545667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:147539260-147539410	GM12864	blood:	n/a	n/a
2	FOXA2	chr7:147544900-147545598	A549	lung:	n/a	n/a
3	FOXA2	chr7:147545011-147545440	A549	lung:	n/a	n/a
4	STAT3	chr7:147539029-147539201	MCF10A-Er-Src	breast:	n/a	n/a
5	YY1	chr7:147545615-147545826	H1-hESC	embryonic stem cell:	n/a	chr7:147545692-147545704

Variant related genes	Relation type
RNA5SP249	TF binding region

Extended variants
information (count: 126 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148549822	chr7:147539084-147539085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74531036	chr7:147539107-147539108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561708796	chr7:147539124-147539125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377523779	chr7:147539160-147539161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189516433	chr7:147539198-147539199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76760536	chr7:147539275-147539276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547370586	chr7:147539319-147539320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182017381	chr7:147539320-147539321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187144073	chr7:147539327-147539328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115134810	chr7:147539335-147539336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10952714	chr7:147539364-147539365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs565730356	chr7:147539375-147539376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535611277	chr7:147539437-147539438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555825068	chr7:147539443-147539444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572158942	chr7:147539469-147539470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116239169	chr7:147539497-147539498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74857709	chr7:147539503-147539504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577938879	chr7:147539561-147539562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190407354	chr7:147539580-147539581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200778697	chr7:147539613-147539614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563763661	chr7:147539626-147539627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369317456	chr7:147539645-147539646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372665320	chr7:147539649-147539650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574167529	chr7:147539658-147539659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374679456	chr7:147539666-147539667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111872166	chr7:147539674-147539675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375659359	chr7:147539680-147539681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3055146	chr7:147539696-147539697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34652342	chr7:147539705-147539706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561770470	chr7:147539716-147539717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191535286	chr7:147539773-147539774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558216583	chr7:147539774-147539775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547435058	chr7:147539781-147539782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201355192	chr7:147539788-147539789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576916848	chr7:147539807-147539808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13224527	chr7:147539834-147539835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372147272	chr7:147539898-147539899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533105026	chr7:147539928-147539929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550035866	chr7:147539930-147539931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113226399	chr7:147540133-147540134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200157786	chr7:147540164-147540165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200954135	chr7:147540446-147540447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201796122	chr7:147540451-147540452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183808830	chr7:147540826-147540827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200203994	chr7:147540994-147540995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201324908	chr7:147541069-147541070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113798961	chr7:147541495-147541496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111387136	chr7:147541866-147541867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368973646	chr7:147541956-147541957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374459915	chr7:147541959-147541960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147536800-147541000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr7:147537000-147540800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:147538800-147546000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:147544600-147544800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:147544800-147545000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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