Variant report

Variant	nsv877054
Chromosome Location	chr3:82937940-83089596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:82973939..82976504-chr3:82990521..82993011,2	MCF-7	breast:
2	chr3:82997480..83000246-chr3:83000555..83002406,2	MCF-7	breast:
3	chr3:82831608..82833347-chr3:82961368..82963419,2	MCF-7	breast:
4	chr3:82975227..82977618-chr3:82982531..82984366,2	MCF-7	breast:
5	chr3:82997480..83000246-chr3:83000555..83002406,2	MCF-7	breast:
6	chr3:82973939..82976504-chr3:82990521..82993011,2	MCF-7	breast:
7	chr3:82975227..82977618-chr3:82982531..82984366,2	MCF-7	breast:

Extended variants
information (count: 1617 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1617 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1496619	chr3:82942040-82942041	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112752204	chr3:82942053-82942054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144480908	chr3:82942072-82942073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576024957	chr3:82942092-82942093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1496618	chr3:82942158-82942159	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370427784	chr3:82942169-82942170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs202040056	chr3:82942172-82942173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555012623	chr3:82942173-82942174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575306831	chr3:82942244-82942245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145418144	chr3:82942276-82942277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148760003	chr3:82942348-82942349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113299533	chr3:82942349-82942350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548186925	chr3:82942357-82942358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577493722	chr3:82942391-82942392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546554496	chr3:82942436-82942437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544844575	chr3:82942579-82942580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142406772	chr3:82942624-82942625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528523772	chr3:82942632-82942633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564640638	chr3:82942661-82942662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561896509	chr3:82942708-82942709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376696674	chr3:82942716-82942717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs578253410	chr3:82942741-82942742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181595135	chr3:82942788-82942789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62262477	chr3:82942796-82942797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185681784	chr3:82942811-82942812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190537029	chr3:82942879-82942880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546535170	chr3:82942916-82942917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62262478	chr3:82942923-82942924	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs6775892	chr3:82942943-82942944	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs183112750	chr3:82942958-82942959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568731513	chr3:82942999-82943000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114477981	chr3:82943004-82943005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79243207	chr3:82943021-82943022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76016072	chr3:82943025-82943026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552253129	chr3:82943026-82943027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77383415	chr3:82943042-82943043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557871663	chr3:82943047-82943048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562924096	chr3:82943050-82943051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577555071	chr3:82943090-82943091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112140146	chr3:82943094-82943095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553244397	chr3:82943109-82943110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186351502	chr3:82943111-82943112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542126405	chr3:82943132-82943133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562137663	chr3:82943189-82943190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568611918	chr3:82943807-82943808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9309916	chr3:82943812-82943813	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs138648348	chr3:82943838-82943839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560116709	chr3:82943840-82943841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577731271	chr3:82943915-82943916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114938989	chr3:82943930-82943931	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
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
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
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82942000-82943200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:82942400-82943200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:82943800-82944000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:82976400-82977600	Enhancers	HepG2	liver
5	chr3:82976600-82977600	Enhancers	Liver	Liver
6	chr3:82987800-82989200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:82987800-82989600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:82988600-82989000	Enhancers	Spleen	Spleen
9	chr3:83010800-83011400	Enhancers	Dnd41	blood
10	chr3:83011400-83011800	Weak transcription	Dnd41	blood
11	chr3:83011800-83013000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:83011800-83013000	Enhancers	Dnd41	blood
13	chr3:83012000-83012400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:83012000-83012400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:83012000-83012800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:83012200-83012400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:83020400-83023000	Weak transcription	Psoas Muscle	Psoas
18	chr3:83022600-83023200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:83022800-83023400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr3:83023000-83023200	ZNF genes & repeats	Psoas Muscle	Psoas
21	chr3:83023000-83023400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:83023000-83023400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:83023000-83023400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:83023400-83027000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:83026400-83028000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:83026400-83028000	Enhancers	Dnd41	blood
27	chr3:83026800-83027800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:83027000-83027800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr3:83027000-83027800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:83027000-83027800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr3:83027000-83027800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:83027000-83028000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr3:83027200-83027800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr3:83027200-83027800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:83027200-83027800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:83027200-83027800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr3:83027200-83028000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr3:83027400-83028000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:83028000-83031400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:83029600-83029800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:83031400-83031600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:83032800-83033000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:83032800-83033400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:83033800-83035000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:83034200-83034800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:83048200-83052200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr3:83048400-83049800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr3:83048400-83054800	Enhancers	Dnd41	blood
49	chr3:83049000-83050000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr3:83049000-83054800	Enhancers	HUES64 Cell Line	embryonic stem cell

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