Variant report

Variant	nsv527727
Chromosome Location	chr7:110182414-110192161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 346 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:346 , 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	rs12705709	chr7:110182414-110182415	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560926946	chr7:110182490-110182491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75252363	chr7:110182615-110182616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146295670	chr7:110182620-110182621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75552710	chr7:110182631-110182632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569472450	chr7:110182652-110182653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541913809	chr7:110182758-110182759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190866468	chr7:110182805-110182806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183452256	chr7:110182827-110182828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571536905	chr7:110182888-110182889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534026921	chr7:110182949-110182950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554015470	chr7:110182954-110182955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199510046	chr7:110183022-110183023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541964284	chr7:110183088-110183089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187775527	chr7:110183171-110183172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113698099	chr7:110183213-110183214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536255749	chr7:110183220-110183221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556398492	chr7:110183227-110183228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576424212	chr7:110183385-110183386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545347787	chr7:110183410-110183411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192177876	chr7:110183499-110183500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560580247	chr7:110183520-110183521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572309133	chr7:110183583-110183584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541085967	chr7:110183607-110183608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546825796	chr7:110183616-110183617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2940385	chr7:110183622-110183623	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529663570	chr7:110183641-110183642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549526632	chr7:110183669-110183670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563329152	chr7:110183722-110183723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531862578	chr7:110183729-110183730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34511482	chr7:110183730-110183731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140661301	chr7:110183739-110183740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534135862	chr7:110183757-110183758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535595861	chr7:110183762-110183763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182931342	chr7:110183773-110183774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373214269	chr7:110183802-110183803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11773333	chr7:110183807-110183808	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187886622	chr7:110183861-110183862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556270646	chr7:110183868-110183869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371383726	chr7:110183885-110183886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570108525	chr7:110183907-110183908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11766508	chr7:110183925-110183926	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs150023168	chr7:110184095-110184096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34823681	chr7:110184208-110184209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145416926	chr7:110184260-110184261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12705710	chr7:110184313-110184314	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs149211402	chr7:110184444-110184445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574433453	chr7:110184500-110184501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77625866	chr7:110184544-110184545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192975538	chr7:110184591-110184592	Enhancers 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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110175200-110182600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:110175200-110188400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:110180400-110183200	Enhancers	HMEC	breast
4	chr7:110180800-110182600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:110181000-110184600	Enhancers	NHEK	skin
6	chr7:110181400-110183200	Enhancers	NHLF	lung
7	chr7:110182000-110182600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:110182600-110182800	Enhancers	NH-A	brain
9	chr7:110182600-110183200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:110182600-110184200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:110182600-110185200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:110182800-110183000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:110182800-110183800	Weak transcription	NH-A	brain
14	chr7:110183000-110188200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:110183200-110183600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:110183200-110183800	Weak transcription	HMEC	breast
17	chr7:110183200-110184000	Weak transcription	NHLF	lung
18	chr7:110183600-110185200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:110183800-110184200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:110183800-110184400	Enhancers	HMEC	breast
21	chr7:110183800-110184400	Enhancers	NH-A	brain
22	chr7:110184000-110184200	Enhancers	NHLF	lung
23	chr7:110184200-110184600	Enhancers	Fetal Stomach	stomach
24	chr7:110184200-110188000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:110184400-110188600	Weak transcription	HMEC	breast
26	chr7:110184600-110188000	Weak transcription	NHEK	skin
27	chr7:110185200-110188200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:110185200-110188200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:110188000-110189000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:110188000-110189200	Enhancers	NHEK	skin
31	chr7:110188200-110188600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:110188200-110188800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:110188200-110189000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:110188400-110188800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:110188600-110189000	Enhancers	HMEC	breast
36	chr7:110188800-110197000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:110189000-110194600	Weak transcription	HMEC	breast
38	chr7:110190800-110191400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:110190800-110191600	ZNF genes & repeats	Dnd41	blood
40	chr7:110191000-110191800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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