Variant report

Variant	esv3475447
Chromosome Location	chr7:152576519-152582417
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	chr7:152579764..152582618-chr7:152582965..152586038,3	K562	blood:

Extended variants
information (count: 309 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546615405	chr7:152576519-152576520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192074478	chr7:152576537-152576538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183239528	chr7:152576600-152576601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371433973	chr7:152576606-152576607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374631694	chr7:152576608-152576609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369427092	chr7:152576660-152576661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376204846	chr7:152576701-152576702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568962211	chr7:152576717-152576718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539241384	chr7:152576746-152576747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201095651	chr7:152576757-152576758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551596248	chr7:152576775-152576776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566653487	chr7:152576826-152576827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112194225	chr7:152576851-152576852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555253545	chr7:152576862-152576863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113417653	chr7:152576916-152576917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537868785	chr7:152576977-152576978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113641293	chr7:152577009-152577010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556215568	chr7:152577018-152577019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578071900	chr7:152577043-152577044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545262075	chr7:152577079-152577080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554391062	chr7:152577088-152577089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373886022	chr7:152577106-152577107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572554991	chr7:152577109-152577110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543302157	chr7:152577120-152577121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561591986	chr7:152577124-152577125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528874203	chr7:152577125-152577126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368106733	chr7:152577260-152577261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544259952	chr7:152577271-152577272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562434590	chr7:152577278-152577279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371304282	chr7:152577295-152577296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374286614	chr7:152577312-152577313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138244599	chr7:152577326-152577327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540119187	chr7:152577335-152577336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566622286	chr7:152577355-152577356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149590613	chr7:152577363-152577364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372754445	chr7:152577401-152577402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199643595	chr7:152577422-152577423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548835479	chr7:152577439-152577440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567248883	chr7:152577441-152577442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189379385	chr7:152577443-152577444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556558266	chr7:152577445-152577446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571647824	chr7:152577469-152577470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377250130	chr7:152577494-152577495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369414646	chr7:152577503-152577504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539075433	chr7:152577530-152577531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192774904	chr7:152577539-152577540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574673779	chr7:152577543-152577544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542082496	chr7:152577595-152577596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560962153	chr7:152577602-152577603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572650849	chr7:152577675-152577676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152567200-152584200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:152573800-152581200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:152578000-152591200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:152580600-152581600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:152580600-152581800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:152580800-152581000	Enhancers	Stomach Smooth Muscle	stomach
7	chr7:152580800-152581600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr7:152580800-152581800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:152580800-152582400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:152581200-152581600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:152581200-152581800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:152581800-152588400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:152581800-152590000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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