Variant report

Variant	nsv965435
Chromosome Location	chr3:118213069-118220612
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C3orf30-2	chr3:118215386-118215620	XLOC_002775
2	lnc-IGSF11-1	chr3:118215470-118215524	ENSG00000243276

Extended variants
information (count: 260 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78606454	chr3:118213072-118213073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145539105	chr3:118213083-118213084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553450890	chr3:118213127-118213128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571751033	chr3:118213197-118213198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2946816	chr3:118213200-118213201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2946817	chr3:118213230-118213231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575320473	chr3:118213233-118213234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537944793	chr3:118213250-118213251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187338634	chr3:118213254-118213255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376434316	chr3:118213336-118213337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554400785	chr3:118213355-118213356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2970117	chr3:118213362-118213363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs72952744	chr3:118213376-118213377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564567379	chr3:118213408-118213409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148821990	chr3:118213440-118213441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543937285	chr3:118213456-118213457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562606978	chr3:118213474-118213475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530973743	chr3:118213514-118213515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549639569	chr3:118213526-118213527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190905867	chr3:118213533-118213534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528824789	chr3:118213547-118213548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547004001	chr3:118213556-118213557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57570219	chr3:118213559-118213560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539046929	chr3:118213650-118213651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144982802	chr3:118213651-118213652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556269499	chr3:118213707-118213708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569341471	chr3:118213710-118213711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569800552	chr3:118213720-118213721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536026616	chr3:118213747-118213748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554388258	chr3:118213771-118213772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182736566	chr3:118213806-118213807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370302555	chr3:118213816-118213817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374591045	chr3:118213821-118213822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534232887	chr3:118213930-118213931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572779257	chr3:118214010-118214011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533869290	chr3:118214064-118214065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74729757	chr3:118214065-118214066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72952746	chr3:118214079-118214080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs9880522	chr3:118214106-118214107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs147562757	chr3:118214134-118214135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111391254	chr3:118214143-118214144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188060646	chr3:118214191-118214192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142607740	chr3:118214205-118214206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35838934	chr3:118214237-118214238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1589282	chr3:118214253-118214254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs530530401	chr3:118214285-118214286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368119001	chr3:118214302-118214303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528714130	chr3:118214309-118214310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540588108	chr3:118214404-118214405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547289526	chr3:118214445-118214446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118208400-118223400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:118210800-118220000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:118214400-118214800	Enhancers	GM12878-XiMat	blood
4	chr3:118215800-118216400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:118215800-118216600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:118216200-118216600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:118216600-118219600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:118216600-118219800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:118217800-118218000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:118218000-118219400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:118218200-118220000	Enhancers	Colon Smooth Muscle	Colon
12	chr3:118218200-118222000	Enhancers	Brain Germinal Matrix	brain
13	chr3:118218800-118221600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr3:118219400-118221000	Enhancers	Fetal Stomach	stomach
15	chr3:118219400-118221200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:118219400-118221800	Enhancers	Fetal Lung	lung
17	chr3:118219600-118219800	Enhancers	Stomach Smooth Muscle	stomach
18	chr3:118219600-118220000	Enhancers	Brain Hippocampus Middle	brain
19	chr3:118219600-118221000	Enhancers	Rectal Smooth Muscle	rectum
20	chr3:118219600-118221200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:118219600-118221200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:118219600-118221200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:118219600-118221200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr3:118219600-118221800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr3:118219800-118220200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:118219800-118220200	Enhancers	Fetal Heart	heart
27	chr3:118219800-118220400	Enhancers	Brain Angular Gyrus	brain
28	chr3:118219800-118220400	Enhancers	Brain Cingulate Gyrus	brain
29	chr3:118219800-118220400	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr3:118219800-118220600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:118219800-118221000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr3:118219800-118221200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:118220000-118220200	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr3:118220000-118220400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:118220000-118220400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:118220000-118220400	Enhancers	Adipose Nuclei	Adipose
37	chr3:118220000-118220400	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr3:118220000-118220400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr3:118220000-118220400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:118220000-118220400	Enhancers	Fetal Muscle Leg	muscle
41	chr3:118220000-118220400	Enhancers	Right Atrium	heart
42	chr3:118220000-118220800	Enhancers	Brain Anterior Caudate	brain
43	chr3:118220000-118220800	Enhancers	HMEC	breast
44	chr3:118220000-118221000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr3:118220000-118221000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:118220000-118221000	Enhancers	Ovary	ovary
47	chr3:118220000-118221200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr3:118220000-118222600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:118220200-118220600	Enhancers	Hela-S3	cervix
50	chr3:118220200-118220800	Enhancers	Fetal Kidney	kidney

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