Variant report

Variant	esv3410133
Chromosome Location	chr7:153372619-153374617
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:153109538..153111597-chr7:153373687..153375958,2	K562	blood:
2	chr7:153366174..153368925-chr7:153372775..153374765,2	K562	blood:
3	chr7:153374613..153377425-chr7:153379537..153382036,2	K562	blood:
4	chr7:153101996..153103872-chr7:153373674..153376458,2	K562	blood:

Variant related genes	Relation type
ENSG00000234722	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569501973	chr7:153372623-153372624	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs533554323	chr7:153372671-153372672	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs145976254	chr7:153372773-153372774	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570424990	chr7:153372867-153372868	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs200632476	chr7:153372881-153372882	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs534614503	chr7:153372893-153372894	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs79394360	chr7:153372904-153372905	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567709420	chr7:153372906-153372907	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs535405391	chr7:153372949-153372950	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs80040710	chr7:153373000-153373001	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs139532222	chr7:153373028-153373029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199626147	chr7:153373032-153373033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545645205	chr7:153373042-153373043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551545270	chr7:153373047-153373048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558251570	chr7:153373089-153373090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13243943	chr7:153373090-153373091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573207017	chr7:153373147-153373148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540629740	chr7:153373170-153373171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561978840	chr7:153373174-153373175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529285877	chr7:153373210-153373211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544958042	chr7:153373223-153373224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563144426	chr7:153373263-153373264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112704433	chr7:153373338-153373339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551637504	chr7:153373362-153373363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564218955	chr7:153373425-153373426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114857772	chr7:153373509-153373510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149662504	chr7:153373526-153373527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185904916	chr7:153373545-153373546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571203358	chr7:153373546-153373547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535067350	chr7:153373554-153373555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553870674	chr7:153373574-153373575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550477166	chr7:153373578-153373579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568780389	chr7:153373581-153373582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536796777	chr7:153373583-153373584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539621054	chr7:153373598-153373599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557625156	chr7:153373601-153373602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545681397	chr7:153373604-153373605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62483911	chr7:153373662-153373663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547633923	chr7:153373687-153373688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs10278954	chr7:153373708-153373709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs10279156	chr7:153373747-153373748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116657602	chr7:153373778-153373779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574101713	chr7:153373788-153373789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs544591725	chr7:153373869-153373870	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190884799	chr7:153373887-153373888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs567944642	chr7:153373919-153373920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs145481673	chr7:153373980-153373981	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs545675366	chr7:153373990-153373991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560570923	chr7:153373995-153373996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs527862545	chr7:153374007-153374008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	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
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Breast cancer	21509527	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:153372200-153373000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:153372400-153372800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr7:153372400-153376400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:153372800-153375000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:153373000-153373400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:153373400-153373800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:153373800-153375000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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