Variant report

Variant	esv13989
Chromosome Location	chr3:195211464-195234174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 496 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554244323	chr3:195230823-195230824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202119755	chr3:195230827-195230828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200058027	chr3:195230840-195230841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201376767	chr3:195230849-195230850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373340887	chr3:195230876-195230877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146771910	chr3:195230885-195230886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199915171	chr3:195230895-195230896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139216213	chr3:195230898-195230899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369800519	chr3:195230914-195230915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77184500	chr3:195230919-195230920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143194014	chr3:195230925-195230926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74963512	chr3:195230927-195230928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375678326	chr3:195230930-195230931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377555279	chr3:195230931-195230932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113577974	chr3:195230943-195230944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370625663	chr3:195230963-195230964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572464105	chr3:195230968-195230969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374284002	chr3:195230969-195230970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201043458	chr3:195230975-195230976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111470058	chr3:195230983-195230984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79516473	chr3:195230985-195230986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564631350	chr3:195230986-195230987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368643802	chr3:195230994-195230995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201096973	chr3:195231000-195231001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2960604	chr3:195231004-195231005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200920755	chr3:195231011-195231012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375252361	chr3:195231018-195231019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576635090	chr3:195231019-195231020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201877143	chr3:195231021-195231022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543671567	chr3:195231022-195231023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200385801	chr3:195231025-195231026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562281458	chr3:195231028-195231029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529769250	chr3:195231041-195231042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56137812	chr3:195231049-195231050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113471962	chr3:195231085-195231086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201052744	chr3:195231087-195231088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202203769	chr3:195231095-195231096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559762288	chr3:195231119-195231120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200485177	chr3:195231135-195231136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527294505	chr3:195231148-195231149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55661914	chr3:195231150-195231151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373293965	chr3:195231153-195231154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201725116	chr3:195231160-195231161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199501724	chr3:195231167-195231168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200606370	chr3:195231168-195231169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370106779	chr3:195231181-195231182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374127519	chr3:195231195-195231196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377675784	chr3:195231203-195231204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376160473	chr3:195231213-195231214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370669781	chr3:195231220-195231221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

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

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

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