Variant report

Variant	esv1824789
Chromosome Location	chr7:147277640-147294703
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	chr7:147268729..147271690-chr7:147275946..147277676,2	K562	blood:
2	chr20:53098001..53098695-chr7:147280534..147281382,2	MCF-7	breast:

Extended variants
information (count: 775 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:775 , 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	rs5003024	chr7:147277640-147277641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149407835	chr7:147277656-147277657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs5888274	chr7:147277657-147277658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34950790	chr7:147277658-147277659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376058215	chr7:147277659-147277660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397956367	chr7:147277660-147277661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201057472	chr7:147277661-147277662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543444631	chr7:147277672-147277673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548226015	chr7:147277681-147277682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs5888275	chr7:147277712-147277713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184059645	chr7:147277730-147277731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150930965	chr7:147277731-147277732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs5003023	chr7:147277741-147277742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs144843303	chr7:147277745-147277746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113741527	chr7:147277771-147277772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539281295	chr7:147277793-147277794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs5003022	chr7:147277794-147277795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539673100	chr7:147277810-147277811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35168656	chr7:147277832-147277833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10243163	chr7:147277833-147277834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572067832	chr7:147277846-147277847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10229748	chr7:147277853-147277854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs375097694	chr7:147277860-147277861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188405668	chr7:147277899-147277900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550142885	chr7:147277909-147277910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112397579	chr7:147277923-147277924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10243306	chr7:147277928-147277929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs113507786	chr7:147277931-147277932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538366961	chr7:147277955-147277956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531459714	chr7:147277957-147277958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191609062	chr7:147277979-147277980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556726189	chr7:147277986-147277987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10246304	chr7:147277988-147277989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs546058641	chr7:147277996-147277997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375589216	chr7:147278008-147278009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10236087	chr7:147278060-147278061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs547345590	chr7:147278079-147278080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112266224	chr7:147278169-147278170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183801037	chr7:147278176-147278177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189427129	chr7:147278197-147278198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539681967	chr7:147278201-147278202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558848691	chr7:147278210-147278211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577223865	chr7:147278212-147278213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144235016	chr7:147278256-147278257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113301625	chr7:147278272-147278273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569785767	chr7:147278287-147278288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535563101	chr7:147278325-147278326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373331330	chr7:147278367-147278368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148288240	chr7:147278444-147278445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572205978	chr7:147278459-147278460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	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	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	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
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	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

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147268000-147283800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:147278400-147283800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:147280400-147282200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:147280800-147282200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:147281000-147282200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:147281000-147282400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:147281000-147284400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:147281400-147282000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:147281400-147284800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:147281400-147284800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:147281600-147282400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:147281600-147284600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:147281800-147282200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:147281800-147282200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr7:147281800-147282200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:147281800-147282200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:147281800-147282200	Enhancers	Gastric	stomach
18	chr7:147281800-147283000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:147282200-147283000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:147282200-147283000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:147282200-147283000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:147282200-147283600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:147282200-147283600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:147282400-147282800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:147282400-147282800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:147282800-147283200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:147282800-147284600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr7:147283000-147283200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr7:147283000-147283200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:147283000-147283800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:147283000-147284400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:147283000-147284800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr7:147283200-147283800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr7:147283200-147284000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:147283600-147284000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:147283600-147284400	Enhancers	H9 Cell Line	embryonic stem cell
37	chr7:147283800-147284200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr7:147283800-147284200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:147283800-147284400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr7:147283800-147284600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:147283800-147284800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr7:147284000-147284200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:147284000-147284600	Enhancers	Fetal Kidney	kidney
44	chr7:147284400-147285600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:147284400-147285800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:147284400-147286000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:147284400-147297600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:147284600-147286000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:147284800-147285800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr7:147284800-147285800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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