Variant report

Variant	nsv967448
Chromosome Location	chr7:153368947-153381748
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:153374613..153377425-chr7:153379537..153382036,2	K562	blood:
2	chr7:153380114..153381790-chr7:153386652..153388674,2	K562	blood:
3	chr7:153374613..153377425-chr7:153379537..153382036,2	K562	blood:
4	chr7:153078444..153079476-chr7:153379433..153380748,5	MCF-7	breast:
5	chr7:153366174..153368925-chr7:153372775..153374765,2	K562	blood:
6	chr7:153101996..153103872-chr7:153373674..153376458,2	K562	blood:
7	chr7:153109538..153111597-chr7:153373687..153375958,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234722	chromatin interactions

Extended variants
information (count: 316 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:316 , 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	rs549257993	chr7:153368950-153368951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567378647	chr7:153368958-153368959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149037588	chr7:153368959-153368960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556711720	chr7:153368980-153368981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77816719	chr7:153368993-153368994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539037607	chr7:153368998-153368999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191099103	chr7:153369050-153369051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116257525	chr7:153369070-153369071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542996168	chr7:153369268-153369269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80080809	chr7:153369269-153369270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182505730	chr7:153369289-153369290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117502265	chr7:153369355-153369356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543583583	chr7:153369365-153369366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186663394	chr7:153369415-153369416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560360979	chr7:153369445-153369446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532824402	chr7:153369476-153369477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142443209	chr7:153369514-153369515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554571633	chr7:153369523-153369524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571211286	chr7:153369564-153369565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78791199	chr7:153369592-153369593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73486263	chr7:153369624-153369625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191158534	chr7:153369651-153369652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113328757	chr7:153369757-153369758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114327143	chr7:153369761-153369762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367933903	chr7:153369842-153369843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117675241	chr7:153369853-153369854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71182831	chr7:153369861-153369862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549955404	chr7:153369889-153369890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112160124	chr7:153369905-153369906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140637225	chr7:153369918-153369919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539174653	chr7:153369936-153369937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554233843	chr7:153369949-153369950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565966672	chr7:153369953-153369954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560944520	chr7:153369960-153369961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113225054	chr7:153370013-153370014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568260151	chr7:153370034-153370035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531474063	chr7:153370058-153370059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138509032	chr7:153370068-153370069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183038127	chr7:153370072-153370073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550618227	chr7:153370157-153370158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558768756	chr7:153370158-153370159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58680269	chr7:153370168-153370169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559228865	chr7:153370179-153370180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569108481	chr7:153370189-153370190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539992875	chr7:153370199-153370200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11984157	chr7:153370230-153370231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544805567	chr7:153370285-153370286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11973779	chr7:153370307-153370308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527305267	chr7:153370308-153370309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142381828	chr7:153370338-153370339	Weak transcription	n/a	n/a	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:153367000-153370400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:153370400-153372400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:153370600-153372200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:153372000-153372600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:153372200-153372400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:153372200-153373000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:153372400-153372800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr7:153372400-153376400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:153372800-153375000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:153373000-153373400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:153373400-153373800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:153373800-153375000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:153380800-153381200	Enhancers	Cortex derived primary cultured neurospheres	brain

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