Variant report

Variant	nsv1009261
Chromosome Location	chr3:88700735-88754260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:88710189..88712102-chr3:88747137..88749542,2	MCF-7	breast:
2	chr3:88710189..88712102-chr3:88747137..88749542,2	MCF-7	breast:

Extended variants
information (count: 1241 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1241 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186831593	chr3:88700759-88700760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572209426	chr3:88700772-88700773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546071665	chr3:88700799-88700800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12487623	chr3:88700827-88700828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543601603	chr3:88700833-88700834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10084753	chr3:88700843-88700844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs77480079	chr3:88700860-88700861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150388589	chr3:88700873-88700874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528974266	chr3:88700892-88700893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367779143	chr3:88700922-88700923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532623352	chr3:88700975-88700976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191719759	chr3:88701017-88701018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529677178	chr3:88701126-88701127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527919755	chr3:88701127-88701128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552830860	chr3:88701131-88701132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181102383	chr3:88701179-88701180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574998052	chr3:88701216-88701217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs137882629	chr3:88701278-88701279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568519781	chr3:88701300-88701301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527277884	chr3:88701309-88701310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548989693	chr3:88701315-88701316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535962558	chr3:88701321-88701322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554017315	chr3:88701322-88701323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199718963	chr3:88701327-88701328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149530706	chr3:88701330-88701331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368086936	chr3:88701332-88701333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79114375	chr3:88701336-88701337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185645937	chr3:88701382-88701383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545708818	chr3:88701389-88701390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117267579	chr3:88701438-88701439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563246856	chr3:88701468-88701469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575945870	chr3:88701476-88701477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377300577	chr3:88701509-88701510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13100049	chr3:88701563-88701564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs528913816	chr3:88701590-88701591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149466104	chr3:88701752-88701753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189678765	chr3:88701791-88701792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556351158	chr3:88701857-88701858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74411948	chr3:88701894-88701895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552513121	chr3:88701898-88701899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565523186	chr3:88701918-88701919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182071272	chr3:88701952-88701953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185964358	chr3:88701970-88701971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571469386	chr3:88701975-88701976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550158948	chr3:88701981-88701982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78856457	chr3:88701988-88701989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538907549	chr3:88702022-88702023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12491633	chr3:88702035-88702036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs572334665	chr3:88702085-88702086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112590163	chr3:88702111-88702112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	19651600	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88689600-88709800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:88709800-88710000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:88709800-88711000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:88710000-88710400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr3:88710000-88713400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:88713400-88713800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:88713800-88717200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:88717200-88718000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:88717400-88718000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:88719600-88720200	Active TSS	Fetal Intestine Large	intestine
11	chr3:88720200-88725400	Weak transcription	Fetal Intestine Large	intestine
12	chr3:88725400-88727000	Enhancers	Fetal Intestine Large	intestine
13	chr3:88725400-88727000	Enhancers	Fetal Intestine Small	intestine
14	chr3:88727000-88728000	Weak transcription	Fetal Intestine Small	intestine
15	chr3:88728000-88728200	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr3:88728200-88728600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:88738800-88739200	Enhancers	Pancreas	Pancrea
18	chr3:88738800-88741000	Enhancers	Fetal Intestine Large	intestine
19	chr3:88738800-88741000	Enhancers	Fetal Intestine Small	intestine
20	chr3:88739000-88739400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:88739200-88739400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:88739400-88741200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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