Variant report

Variant	nsv820668
Chromosome Location	chr3:195196464-195234204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACAP2-1	chr3:195204068-195204142	refGeneNc_4303_NR_033944

Extended variants
information (count: 627 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:627 , 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	rs547308529	chr3:195196555-195196556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111576849	chr3:195196565-195196566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34694832	chr3:195196580-195196581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567144128	chr3:195196581-195196582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183242445	chr3:195196623-195196624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145038549	chr3:195196624-195196625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531640191	chr3:195196626-195196627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570100463	chr3:195196659-195196660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537545578	chr3:195196661-195196662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140521727	chr3:195196663-195196664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2686442	chr3:195196664-195196665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534989655	chr3:195196682-195196683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561645978	chr3:195196690-195196691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553719518	chr3:195196751-195196752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371775826	chr3:195196753-195196754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115742758	chr3:195196757-195196758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573555133	chr3:195196778-195196779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557520117	chr3:195196785-195196786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142152134	chr3:195196816-195196817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543504233	chr3:195196855-195196856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561598015	chr3:195196860-195196861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35364888	chr3:195196871-195196872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151190093	chr3:195196885-195196886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540607596	chr3:195196916-195196917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559252935	chr3:195196928-195196929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562707640	chr3:195196942-195196943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533055992	chr3:195196981-195196982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201912196	chr3:195197006-195197007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34024401	chr3:195197020-195197021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375950382	chr3:195197052-195197053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71637161	chr3:195197053-195197054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398052578	chr3:195197073-195197074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149877182	chr3:195197079-195197080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374718030	chr3:195197080-195197081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569844672	chr3:195197092-195197093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150912663	chr3:195197113-195197114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187552823	chr3:195197115-195197116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34182638	chr3:195197117-195197118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567729969	chr3:195197125-195197126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535053907	chr3:195197141-195197142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553399480	chr3:195197142-195197143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190464810	chr3:195197147-195197148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539326918	chr3:195197148-195197149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183459249	chr3:195197149-195197150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575814496	chr3:195197157-195197158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146438315	chr3:195197170-195197171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139409121	chr3:195197181-195197182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559944343	chr3:195197193-195197194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527875861	chr3:195197201-195197202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555075657	chr3:195197210-195197211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195195400-195198200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:195198200-195198400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:195230800-195238800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:195230800-195239400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:195231600-195231800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr3:195231600-195233200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr3:195231600-195233200	Weak transcription	Adipose Nuclei	Adipose
8	chr3:195231600-195233200	Weak transcription	Liver	Liver
9	chr3:195231600-195234200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr3:195231800-195236400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr3:195231800-195238800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:195231800-195238800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr3:195231800-195240000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr3:195232000-195234400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr3:195232000-195235000	Weak transcription	Primary T cells from cord blood	blood
16	chr3:195232000-195237000	Weak transcription	Primary B cells from cord blood	blood
17	chr3:195232000-195238800	Weak transcription	Placenta	Placenta
18	chr3:195232000-195239800	Weak transcription	Lung	lung
19	chr3:195232000-195267400	Weak transcription	Aorta	Aorta
20	chr3:195232200-195234200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:195232200-195235200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr3:195232200-195240000	Weak transcription	K562	blood
23	chr3:195232200-195262200	Weak transcription	Fetal Kidney	kidney
24	chr3:195232400-195235000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr3:195232400-195239800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:195232400-195240200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:195232400-195240400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:195232600-195235000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr3:195232600-195238800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr3:195232600-195239600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:195232600-195249800	Weak transcription	Spleen	Spleen
32	chr3:195232800-195233800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:195232800-195236400	Weak transcription	Fetal Thymus	thymus
34	chr3:195233000-195235400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:195233000-195238000	Weak transcription	Fetal Intestine Small	intestine
36	chr3:195233200-195233800	Strong transcription	Adipose Nuclei	Adipose
37	chr3:195233200-195234000	Strong transcription	Liver	Liver
38	chr3:195233200-195234400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:195233200-195240600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:195233600-195236200	Weak transcription	Thymus	Thymus
41	chr3:195233600-195236400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr3:195233600-195238200	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:195233600-195249800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr3:195233800-195234000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr3:195233800-195235600	Enhancers	Adipose Nuclei	Adipose
46	chr3:195233800-195235800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:195233800-195240000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:195234000-195238600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:195234000-195239000	Weak transcription	Fetal Intestine Large	intestine
50	chr3:195234000-195240200	Weak transcription	Liver	Liver

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