Variant report

Variant	nsv967036
Chromosome Location	chr3:89635841-89639105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:89635960-89636110	HMEC	breast:	n/a	n/a
2	CTCF	chr3:89636006-89636121	MCF-7	breast:	n/a	n/a
3	CTCF	chr3:89636002-89636117	GM20000	blood:	n/a	n/a
4	CTCF	chr3:89635996-89636134	MCF-7	breast:	n/a	n/a
5	CTCF	chr3:89635940-89636090	MCF-7	breast:	n/a	n/a
6	MYC	chr3:89636005-89636086	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr3:89636857-89636887	MCF10A-Er-Src	breast:	n/a	n/a
8	RAD21	chr3:89635812-89636179	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr3:89635883-89636170	H1-hESC	embryonic stem cell:	n/a	n/a
10	USF1	chr3:89635913-89636151	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000240951	TF binding region

Extended variants
information (count: 118 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71621551	chr3:89635933-89635934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538797747	chr3:89635965-89635966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184794655	chr3:89636030-89636031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190278456	chr3:89636058-89636059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566158716	chr3:89636067-89636068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539975383	chr3:89636103-89636104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143990418	chr3:89636144-89636145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576506380	chr3:89636145-89636146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181882329	chr3:89636173-89636174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369843361	chr3:89636177-89636178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78261768	chr3:89636214-89636215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565581476	chr3:89636246-89636247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185275471	chr3:89636255-89636256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113201220	chr3:89636295-89636296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77115629	chr3:89636297-89636298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540845844	chr3:89636305-89636306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552781471	chr3:89636333-89636334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73847650	chr3:89636334-89636335	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs544750166	chr3:89636339-89636340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554322402	chr3:89636375-89636376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562898533	chr3:89636418-89636419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530434783	chr3:89636432-89636433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371855828	chr3:89636441-89636442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544060307	chr3:89636487-89636488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562267974	chr3:89636488-89636489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72925620	chr3:89636525-89636526	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs536815814	chr3:89636528-89636529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147310738	chr3:89636596-89636597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533464723	chr3:89636597-89636598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551911213	chr3:89636599-89636600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558350755	chr3:89636660-89636661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189709811	chr3:89636671-89636672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181146232	chr3:89636672-89636673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185145885	chr3:89636674-89636675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189613085	chr3:89636703-89636704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73847653	chr3:89636708-89636709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs552744775	chr3:89636761-89636762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6786215	chr3:89636813-89636814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544663690	chr3:89636886-89636887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556653789	chr3:89636949-89636950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149858638	chr3:89636959-89636960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553320806	chr3:89637046-89637047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574783530	chr3:89637051-89637052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145875852	chr3:89637055-89637056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76406556	chr3:89637065-89637066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529554316	chr3:89637147-89637148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369272315	chr3:89637148-89637149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541796720	chr3:89637185-89637186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372676678	chr3:89637186-89637187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563739920	chr3:89637239-89637240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Soft tissue tumor	16732325	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89633800-89636400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:89634800-89636000	Enhancers	Brain Substantia Nigra	brain
3	chr3:89634800-89636200	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr3:89635000-89636400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:89635400-89636600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:89635800-89636000	Enhancers	Brain Hippocampus Middle	brain
7	chr3:89636600-89637000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:89637000-89637200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:89637200-89650600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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