Variant report

Variant	esv3476934
Chromosome Location	chr7:147354996-147355392
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	chr7:147353644..147356428-chr7:147367899..147370920,3	K562	blood:

Variant related genes	Relation type
ENSG00000230190	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554943523	chr7:147355008-147355009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs562820278	chr7:147355115-147355116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576418022	chr7:147355118-147355119	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541848392	chr7:147355119-147355120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181354200	chr7:147355145-147355146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374684944	chr7:147355148-147355149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs11974369	chr7:147355159-147355160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs11975087	chr7:147355164-147355165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576063182	chr7:147355212-147355213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532102006	chr7:147355217-147355218	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374150568	chr7:147355228-147355229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs28407127	chr7:147355237-147355238	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568845311	chr7:147355259-147355260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376198582	chr7:147355278-147355279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537888874	chr7:147355293-147355294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs547875566	chr7:147355298-147355299	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs568367378	chr7:147355315-147355316	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534039829	chr7:147355323-147355324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554024342	chr7:147355325-147355326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs6979639	chr7:147355327-147355328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs11970817	chr7:147355347-147355348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11358943	chr7:147355360-147355361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs377289326	chr7:147355368-147355369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556658120	chr7:147355373-147355374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs77411613	chr7:147355378-147355379	Weak transcription	Chromatin interactive region	1 gene(s)	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
Splenic marginal zone lymphoma	21957467	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147349000-147355600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:147349000-147355600	Weak transcription	Fetal Lung	lung
3	chr7:147350800-147355400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:147350800-147355600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:147351200-147355600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:147351800-147355400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:147351800-147355400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:147351800-147355600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:147351800-147355600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:147351800-147355600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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