Variant report

Variant	nsv590808
Chromosome Location	chr3:83141602-83305448
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:83218573..83221000-chr3:83236194..83238608,2	MCF-7	breast:
2	chr3:83259046..83263569-chr3:83264254..83268507,5	MCF-7	breast:
3	chr3:83267098..83269702-chr3:83272683..83275167,2	MCF-7	breast:
4	chr3:83141093..83143297-chr3:83147179..83148923,2	MCF-7	breast:
5	chr3:83141093..83143297-chr3:83147179..83148923,2	MCF-7	breast:
6	chr3:83241662..83244183-chr3:83266254..83267831,2	MCF-7	breast:
7	chr3:83259046..83263569-chr3:83264254..83268507,5	MCF-7	breast:
8	chr3:83214717..83216507-chr3:83229248..83232091,2	MCF-7	breast:
9	chr3:83218573..83221000-chr3:83236194..83238608,2	MCF-7	breast:
10	chr3:83241662..83244183-chr3:83266254..83267831,2	MCF-7	breast:
11	chr3:83267351..83269758-chr3:83271525..83273179,2	K562	blood:
12	chr3:83267351..83269758-chr3:83271525..83273179,2	K562	blood:
13	chr3:83214717..83216507-chr3:83229248..83232091,2	MCF-7	breast:
14	chr3:83267098..83269702-chr3:83272683..83275167,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-5	chr3:83267285-83267522	NONHSAT090630
2	lnc-CADM2-5	chr3:83281364-83282224	XLOC_002720
3	lnc-CADM2-5	chr3:83280678-83280725	XLOC_002720
4	lnc-CADM2-5	chr3:83281363-83282224	NONHSAT090630
5	lnc-CADM2-5	chr3:83280670-83280725	NONHSAT090630

No data

Extended variants
information (count: 872 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:872 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6794586	chr3:83141602-83141603	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184355000	chr3:83141603-83141604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188212807	chr3:83141656-83141657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577256674	chr3:83141671-83141672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527588271	chr3:83141673-83141674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191561489	chr3:83141715-83141716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184140672	chr3:83141730-83141731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150063566	chr3:83141751-83141752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558244109	chr3:83141769-83141770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62260694	chr3:83141782-83141783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375182043	chr3:83141800-83141801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72898894	chr3:83141804-83141805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545936734	chr3:83141830-83141831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114198842	chr3:83141834-83141835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562318083	chr3:83141849-83141850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73844731	chr3:83141887-83141888	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs369313350	chr3:83141938-83141939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566991421	chr3:83141964-83141965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551879160	chr3:83142007-83142008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188864711	chr3:83142029-83142030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181617550	chr3:83142040-83142041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4401374	chr3:83142058-83142059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199632611	chr3:83142083-83142084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573867200	chr3:83142174-83142175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540267472	chr3:83142185-83142186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1482644	chr3:83142216-83142217	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556752351	chr3:83142223-83142224	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs145295122	chr3:83142249-83142250	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs34679653	chr3:83142417-83142418	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs545532159	chr3:83142440-83142441	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs186810298	chr3:83142444-83142445	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs190519328	chr3:83142463-83142464	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs561973119	chr3:83142464-83142465	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs375253285	chr3:83142473-83142474	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs182004807	chr3:83142509-83142510	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs541301659	chr3:83142535-83142536	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs35252350	chr3:83142537-83142538	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs149189950	chr3:83142543-83142544	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs543241362	chr3:83142551-83142552	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs186406342	chr3:83142559-83142560	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs532060442	chr3:83142587-83142588	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs573958154	chr3:83142612-83142613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552256078	chr3:83142629-83142630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547361221	chr3:83142630-83142631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570400932	chr3:83142636-83142637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565505209	chr3:83142652-83142653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189668302	chr3:83142664-83142665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547808913	chr3:83142732-83142733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143839513	chr3:83142734-83142735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146690512	chr3:83142735-83142736	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83139200-83142000	Weak transcription	Pancreas	Pancrea
2	chr3:83140800-83142200	Enhancers	Liver	Liver
3	chr3:83141600-83142600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:83142200-83142600	Flanking Active TSS	Liver	Liver
5	chr3:83142200-83143200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:83142600-83142800	Enhancers	Liver	Liver
7	chr3:83145600-83145800	Enhancers	Pancreas	Pancrea
8	chr3:83163000-83163200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:83163200-83164200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:83164200-83165400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:83193600-83194200	Enhancers	Dnd41	blood
12	chr3:83200000-83200400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:83215600-83216000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:83215600-83216200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:83215800-83216400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr3:83230400-83231000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:83230600-83231400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:83238600-83239200	Enhancers	Dnd41	blood
19	chr3:83240400-83241400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:83241400-83241600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:83241600-83241800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:83241800-83242200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:83241800-83242400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr3:83241800-83242400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:83247800-83249200	Enhancers	Dnd41	blood
26	chr3:83249800-83250000	Enhancers	Dnd41	blood
27	chr3:83253600-83254200	Active TSS	Aorta	Aorta
28	chr3:83266000-83266400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr3:83266200-83267000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:83266600-83267600	Active TSS	K562	blood
31	chr3:83267000-83267600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:83267600-83268200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:83267800-83268000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:83272000-83274600	Enhancers	HUVEC	blood vessel
35	chr3:83272800-83274000	Enhancers	NHEK	skin
36	chr3:83273000-83274000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:83273200-83273600	Enhancers	NH-A	brain
38	chr3:83273200-83274000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:83273200-83274000	Enhancers	Ovary	ovary
40	chr3:83273200-83274200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr3:83273200-83274600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:83274600-83278400	Weak transcription	HUVEC	blood vessel
43	chr3:83276600-83277000	Enhancers	A549	lung
44	chr3:83277000-83277200	Flanking Active TSS	A549	lung
45	chr3:83277200-83277400	Active TSS	A549	lung
46	chr3:83278400-83278600	Enhancers	HUVEC	blood vessel
47	chr3:83282600-83283000	Active TSS	A549	lung
48	chr3:83297600-83298200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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