Variant report

Variant	nsv877068
Chromosome Location	chr3:83216023-83282771
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:12)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:83218573..83221000-chr3:83236194..83238608,2	MCF-7	breast:
2	chr3:83214717..83216507-chr3:83229248..83232091,2	MCF-7	breast:
3	chr3:83267351..83269758-chr3:83271525..83273179,2	K562	blood:
4	chr3:83241662..83244183-chr3:83266254..83267831,2	MCF-7	breast:
5	chr3:83259046..83263569-chr3:83264254..83268507,5	MCF-7	breast:
6	chr3:83259046..83263569-chr3:83264254..83268507,5	MCF-7	breast:
7	chr3:83241662..83244183-chr3:83266254..83267831,2	MCF-7	breast:
8	chr3:83267351..83269758-chr3:83271525..83273179,2	K562	blood:
9	chr3:83267098..83269702-chr3:83272683..83275167,2	MCF-7	breast:
10	chr3:83267098..83269702-chr3:83272683..83275167,2	MCF-7	breast:
11	chr3:83218573..83221000-chr3:83236194..83238608,2	MCF-7	breast:
12	chr3:83214717..83216507-chr3:83229248..83232091,2	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	chr3:83280670-83280725	NONHSAT090630
3	lnc-CADM2-5	chr3:83281363-83282224	NONHSAT090630
4	lnc-CADM2-5	chr3:83280678-83280725	XLOC_002720
5	lnc-CADM2-5	chr3:83281364-83282224	XLOC_002720

No data

Extended variants
information (count: 604 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:604 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9852352	chr3:83216023-83216024	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560889465	chr3:83216047-83216048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529566484	chr3:83216079-83216080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116216663	chr3:83216148-83216149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555805366	chr3:83216174-83216175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534127924	chr3:83216251-83216252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563089686	chr3:83216306-83216307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527430284	chr3:83216345-83216346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550631951	chr3:83216355-83216356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192048864	chr3:83230526-83230527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544855056	chr3:83230576-83230577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556338558	chr3:83230609-83230610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183461099	chr3:83230615-83230616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575113195	chr3:83230621-83230622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545136295	chr3:83230639-83230640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377267162	chr3:83230641-83230642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201675657	chr3:83230663-83230664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186653642	chr3:83230716-83230717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540952002	chr3:83230724-83230725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536466928	chr3:83230757-83230758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561201297	chr3:83230778-83230779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560853682	chr3:83230875-83230876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554629642	chr3:83230898-83230899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576160126	chr3:83230899-83230900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529604170	chr3:83230970-83230971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191455693	chr3:83230993-83230994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145463698	chr3:83231047-83231048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201427530	chr3:83231062-83231063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535574165	chr3:83231063-83231064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201192561	chr3:83231078-83231079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549961697	chr3:83231083-83231084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563516040	chr3:83231084-83231085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532242464	chr3:83231085-83231086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148892724	chr3:83231107-83231108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142683259	chr3:83231109-83231110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1519001	chr3:83231125-83231126	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs77656335	chr3:83231157-83231158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567905705	chr3:83231169-83231170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536550620	chr3:83231170-83231171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556326358	chr3:83231209-83231210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576274434	chr3:83231212-83231213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148266502	chr3:83231232-83231233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35468678	chr3:83231233-83231234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs397877700	chr3:83231259-83231260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs60246629	chr3:83231260-83231261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541271247	chr3:83231290-83231291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538723358	chr3:83231365-83231366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558659365	chr3:83231370-83231371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572463023	chr3:83231388-83231389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151022555	chr3:83231398-83231399	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83215600-83216200	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr3:83215800-83216400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr3:83230400-83231000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:83230600-83231400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:83238600-83239200	Enhancers	Dnd41	blood
6	chr3:83240400-83241400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:83241400-83241600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:83241600-83241800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:83241800-83242200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:83241800-83242400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr3:83241800-83242400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:83247800-83249200	Enhancers	Dnd41	blood
13	chr3:83249800-83250000	Enhancers	Dnd41	blood
14	chr3:83253600-83254200	Active TSS	Aorta	Aorta
15	chr3:83266000-83266400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr3:83266200-83267000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:83266600-83267600	Active TSS	K562	blood
18	chr3:83267000-83267600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:83267600-83268200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:83267800-83268000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:83272000-83274600	Enhancers	HUVEC	blood vessel
22	chr3:83272800-83274000	Enhancers	NHEK	skin
23	chr3:83273000-83274000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:83273200-83273600	Enhancers	NH-A	brain
25	chr3:83273200-83274000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:83273200-83274000	Enhancers	Ovary	ovary
27	chr3:83273200-83274200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr3:83273200-83274600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:83274600-83278400	Weak transcription	HUVEC	blood vessel
30	chr3:83276600-83277000	Enhancers	A549	lung
31	chr3:83277000-83277200	Flanking Active TSS	A549	lung
32	chr3:83277200-83277400	Active TSS	A549	lung
33	chr3:83278400-83278600	Enhancers	HUVEC	blood vessel
34	chr3:83282600-83283000	Active TSS	A549	lung

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