Variant report

Variant	nsv1005603
Chromosome Location	chr3:89174152-89223459
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:89207136..89210104-chr3:89214868..89216855,2	MCF-7	breast:
2	chr10:75910543..75911043-chr3:89208197..89208700,2	Hela-S3	cervix:
3	chr3:89179300..89181545-chr3:89184054..89185924,2	MCF-7	breast:
4	chr3:89207136..89210104-chr3:89214868..89216855,2	MCF-7	breast:
5	chr3:89179300..89181545-chr3:89184054..89185924,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156110	chromatin interactions
ENSG00000185009	chromatin interactions

Extended variants
information (count: 1751 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1751 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9811026	chr3:89174152-89174153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs71322856	chr3:89174156-89174157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs144373172	chr3:89174164-89174165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11914760	chr3:89174212-89174213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548083501	chr3:89174233-89174234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376417908	chr3:89174244-89174245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566213195	chr3:89174253-89174254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182788478	chr3:89174266-89174267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13060877	chr3:89174290-89174291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187557089	chr3:89174292-89174293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537546050	chr3:89174297-89174298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191201638	chr3:89174325-89174326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567470366	chr3:89174326-89174327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370871632	chr3:89174447-89174448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534491509	chr3:89174510-89174511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553112721	chr3:89174522-89174523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182577749	chr3:89174572-89174573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544101418	chr3:89174611-89174612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544895924	chr3:89174668-89174669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149200527	chr3:89174701-89174702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368636765	chr3:89174739-89174740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76660297	chr3:89174742-89174743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200333984	chr3:89174744-89174745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557882522	chr3:89174799-89174800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143388397	chr3:89174825-89174826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529510603	chr3:89174837-89174838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541290755	chr3:89174928-89174929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573066180	chr3:89174929-89174930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534014445	chr3:89175013-89175014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151338085	chr3:89175025-89175026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533708879	chr3:89175048-89175049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552058073	chr3:89175095-89175096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80335096	chr3:89175246-89175247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188886140	chr3:89175247-89175248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549478865	chr3:89175250-89175251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141494168	chr3:89175279-89175280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535104257	chr3:89175307-89175308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552935699	chr3:89175356-89175357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192558507	chr3:89175472-89175473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572588861	chr3:89175523-89175524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541649615	chr3:89175586-89175587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571109411	chr3:89175622-89175623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9829805	chr3:89175644-89175645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573957977	chr3:89175693-89175694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575534319	chr3:89175694-89175695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556794599	chr3:89175749-89175750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574907229	chr3:89175759-89175760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542229020	chr3:89175769-89175770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554527723	chr3:89175911-89175912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9868041	chr3:89175937-89175938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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

Chromatin state (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89167000-89176200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:89172000-89180800	Weak transcription	Brain Germinal Matrix	brain
3	chr3:89173600-89177200	Weak transcription	Fetal Lung	lung
4	chr3:89174000-89193200	Weak transcription	Fetal Brain Female	brain
5	chr3:89176200-89178400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:89176800-89178400	Enhancers	Fetal Heart	heart
7	chr3:89176800-89184800	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:89177200-89177600	Enhancers	Fetal Lung	lung
9	chr3:89177600-89187200	Weak transcription	Fetal Lung	lung
10	chr3:89178000-89178600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:89178000-89178600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:89178000-89178600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:89178000-89178800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr3:89178200-89178600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:89178400-89180600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:89178600-89182200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:89178800-89179200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:89179200-89179400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr3:89179400-89181000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:89179400-89182800	Weak transcription	Fetal Stomach	stomach
21	chr3:89179600-89188000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr3:89180400-89182800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr3:89180600-89181200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:89180600-89181800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:89180800-89183400	Strong transcription	Brain Germinal Matrix	brain
26	chr3:89181000-89182000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr3:89181200-89181600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr3:89181600-89182400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr3:89181800-89182600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:89182200-89182400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr3:89182600-89182800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:89182800-89183000	ZNF genes & repeats	Fetal Stomach	stomach
33	chr3:89182800-89183200	ZNF genes & repeats	Left Ventricle	heart
34	chr3:89182800-89184600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:89183000-89187000	Weak transcription	Fetal Stomach	stomach
36	chr3:89183400-89183800	Weak transcription	Brain Germinal Matrix	brain
37	chr3:89183800-89184200	ZNF genes & repeats	Brain Germinal Matrix	brain
38	chr3:89184200-89185000	Weak transcription	Brain Germinal Matrix	brain
39	chr3:89184600-89190600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:89187000-89187200	Enhancers	Fetal Stomach	stomach
41	chr3:89187200-89187400	Enhancers	Fetal Lung	lung
42	chr3:89190600-89190800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:89190800-89193200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:89191400-89191800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:89191800-89194600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:89193200-89193600	Enhancers	Fetal Brain Female	brain
47	chr3:89193200-89193800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:89193600-89205800	Weak transcription	Fetal Brain Female	brain
49	chr3:89194600-89195600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:89194600-89195600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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