Variant report

Variant	nsv609074
Chromosome Location	chr7:153285687-153314542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:153291103..153293422-chr7:153317816..153319821,2	K562	blood:
2	chr7:153313143..153316198-chr7:153317253..153319908,4	K562	blood:
3	chr7:153302622..153304784-chr7:153308903..153310899,2	K562	blood:
4	chr7:153288321..153290780-chr7:153315466..153317152,2	K562	blood:
5	chr7:153286479..153288377-chr7:153294913..153296439,2	K562	blood:
6	chr7:153302622..153304784-chr7:153308903..153310899,2	K562	blood:
7	chr7:153298050..153299925-chr7:153304254..153305961,2	K562	blood:
8	chr7:153294161..153296429-chr7:153302912..153305388,2	K562	blood:
9	chr7:153298050..153299925-chr7:153304254..153305961,2	K562	blood:
10	chr7:153294161..153296429-chr7:153302912..153305388,2	K562	blood:
11	chr7:153286479..153288377-chr7:153294913..153296439,2	K562	blood:
12	chr7:153100488..153103412-chr7:153303424..153305965,2	K562	blood:

No data

Extended variants
information (count: 44 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10227442	chr7:153285687-153285688	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530059615	chr7:153285690-153285691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6942954	chr7:153285755-153285756	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569674908	chr7:153285797-153285798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148866980	chr7:153285806-153285807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570164018	chr7:153285868-153285869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374179152	chr7:153285897-153285898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577497652	chr7:153285898-153285899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191685446	chr7:153285920-153285921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553334147	chr7:153285948-153285949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183544038	chr7:153285980-153285981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542696252	chr7:153285998-153285999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117899755	chr7:153313605-153313606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546768640	chr7:153313633-153313634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568269993	chr7:153313662-153313663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529372956	chr7:153313671-153313672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551075351	chr7:153313756-153313757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575151086	chr7:153313766-153313767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555220842	chr7:153313829-153313830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150139209	chr7:153313841-153313842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539857460	chr7:153313921-153313922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544453535	chr7:153313938-153313939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73484310	chr7:153313948-153313949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186486403	chr7:153314090-153314091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190965211	chr7:153314091-153314092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563202029	chr7:153314126-153314127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112776808	chr7:153314145-153314146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182395237	chr7:153314156-153314157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138610905	chr7:153314160-153314161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116722925	chr7:153314179-153314180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557051497	chr7:153314214-153314215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575119678	chr7:153314223-153314224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200933170	chr7:153314228-153314229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199762119	chr7:153314229-153314230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71182824	chr7:153314236-153314237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545828871	chr7:153314357-153314358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563927753	chr7:153314382-153314383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10216303	chr7:153314437-153314438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370846686	chr7:153314458-153314459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561837525	chr7:153314470-153314471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529129724	chr7:153314485-153314486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7807270	chr7:153314494-153314495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569375543	chr7:153314518-153314519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11763554	chr7:153314542-153314543	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

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
Autism	22102821	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
Non-syndromic sensorineural hearing loss	19212409	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:153285400-153286000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr7:153313600-153314200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:153313800-153314200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:153313800-153314200	Enhancers	Gastric	stomach
5	chr7:153313800-153314400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:153313800-153315200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:153313800-153315200	Enhancers	Stomach Smooth Muscle	stomach
8	chr7:153314000-153314200	Enhancers	Fetal Kidney	kidney
9	chr7:153314000-153314400	Enhancers	Rectal Smooth Muscle	rectum
10	chr7:153314000-153314600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:153314200-153314800	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr7:153314200-153315000	Enhancers	Colon Smooth Muscle	Colon
13	chr7:153314200-153324000	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links