Variant report

Variant	nsv608116
Chromosome Location	chr7:110183622-110192161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:110182691..110184718-chr7:110187881..110190742,2	K562	blood:
2	chr4:4482219..4482825-chr7:110184645..110185165,2	MCF-7	breast:
3	chr7:110182691..110184718-chr7:110187881..110190742,2	K562	blood:
4	chr7:110177934..110179982-chr7:110181081..110183744,2	K562	blood:

Extended variants
information (count: 321 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:321 , 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	rs2940385	chr7:110183622-110183623	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529663570	chr7:110183641-110183642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549526632	chr7:110183669-110183670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563329152	chr7:110183722-110183723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531862578	chr7:110183729-110183730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34511482	chr7:110183730-110183731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140661301	chr7:110183739-110183740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534135862	chr7:110183757-110183758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535595861	chr7:110183762-110183763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182931342	chr7:110183773-110183774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373214269	chr7:110183802-110183803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11773333	chr7:110183807-110183808	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs187886622	chr7:110183861-110183862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556270646	chr7:110183868-110183869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371383726	chr7:110183885-110183886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570108525	chr7:110183907-110183908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11766508	chr7:110183925-110183926	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs150023168	chr7:110184095-110184096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34823681	chr7:110184208-110184209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145416926	chr7:110184260-110184261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12705710	chr7:110184313-110184314	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs149211402	chr7:110184444-110184445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574433453	chr7:110184500-110184501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77625866	chr7:110184544-110184545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192975538	chr7:110184591-110184592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532021019	chr7:110184598-110184599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545257028	chr7:110184611-110184612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565241788	chr7:110184619-110184620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527853726	chr7:110184622-110184623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116757072	chr7:110184630-110184631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143253780	chr7:110184650-110184651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567885651	chr7:110184686-110184687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530131596	chr7:110184696-110184697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375964119	chr7:110184698-110184699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184485107	chr7:110184744-110184745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529093130	chr7:110184764-110184765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570023916	chr7:110184787-110184788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189255564	chr7:110184848-110184849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192163874	chr7:110184922-110184923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71572815	chr7:110184951-110184952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1396167	chr7:110184985-110184986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73205272	chr7:110185021-110185022	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141688382	chr7:110185028-110185029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565459274	chr7:110185036-110185037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574622538	chr7:110185043-110185044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184750759	chr7:110185094-110185095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs867070	chr7:110185117-110185118	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs550996534	chr7:110185181-110185182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs867069	chr7:110185231-110185232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545418089	chr7:110185281-110185282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110175200-110188400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:110181000-110184600	Enhancers	NHEK	skin
3	chr7:110182600-110184200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:110182600-110185200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:110182800-110183800	Weak transcription	NH-A	brain
6	chr7:110183000-110188200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:110183200-110183800	Weak transcription	HMEC	breast
8	chr7:110183200-110184000	Weak transcription	NHLF	lung
9	chr7:110183600-110185200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:110183800-110184200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:110183800-110184400	Enhancers	HMEC	breast
12	chr7:110183800-110184400	Enhancers	NH-A	brain
13	chr7:110184000-110184200	Enhancers	NHLF	lung
14	chr7:110184200-110184600	Enhancers	Fetal Stomach	stomach
15	chr7:110184200-110188000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:110184400-110188600	Weak transcription	HMEC	breast
17	chr7:110184600-110188000	Weak transcription	NHEK	skin
18	chr7:110185200-110188200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:110185200-110188200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:110188000-110189000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:110188000-110189200	Enhancers	NHEK	skin
22	chr7:110188200-110188600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:110188200-110188800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:110188200-110189000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:110188400-110188800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:110188600-110189000	Enhancers	HMEC	breast
27	chr7:110188800-110197000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:110189000-110194600	Weak transcription	HMEC	breast
29	chr7:110190800-110191400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:110190800-110191600	ZNF genes & repeats	Dnd41	blood
31	chr7:110191000-110191800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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