Variant report

Variant	esv1829929
Chromosome Location	chr3:196187608-196190259
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 177 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2342371	chr3:196187608-196187609	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs185081858	chr3:196187611-196187612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535954510	chr3:196187680-196187681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370102097	chr3:196187744-196187745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548131392	chr3:196187749-196187750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559952786	chr3:196187785-196187786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533576853	chr3:196187815-196187816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551807311	chr3:196187821-196187822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140879477	chr3:196187827-196187828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150176973	chr3:196187835-196187836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549145325	chr3:196187894-196187895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567988886	chr3:196187897-196187898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189485704	chr3:196187906-196187907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553663472	chr3:196187916-196187917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11185542	chr3:196187927-196187928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs77005340	chr3:196187958-196187959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78612074	chr3:196187961-196187962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372712374	chr3:196187962-196187963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10683223	chr3:196187980-196187981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539257956	chr3:196187982-196187983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138543350	chr3:196187986-196187987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79338598	chr3:196188008-196188009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540344750	chr3:196188015-196188016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79975636	chr3:196188018-196188019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370983600	chr3:196188034-196188035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536929198	chr3:196188035-196188036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376428913	chr3:196188070-196188071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73213989	chr3:196188076-196188077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs145316808	chr3:196188079-196188080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560093328	chr3:196188082-196188083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533564712	chr3:196188097-196188098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs137943799	chr3:196188100-196188101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142303685	chr3:196188109-196188110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530340671	chr3:196188161-196188162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115275631	chr3:196188205-196188206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567285643	chr3:196188207-196188208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143025945	chr3:196188255-196188256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376325784	chr3:196188278-196188279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200134092	chr3:196188290-196188291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577084553	chr3:196188299-196188300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565682705	chr3:196188317-196188318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12491436	chr3:196188330-196188331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12491437	chr3:196188336-196188337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548864350	chr3:196188342-196188343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374095993	chr3:196188352-196188353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367939295	chr3:196188358-196188359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201767624	chr3:196188383-196188384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144010841	chr3:196188392-196188393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147260599	chr3:196188394-196188395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367667589	chr3:196188400-196188401	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
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196168400-196194200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:196170800-196196000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:196171000-196198400	Weak transcription	Fetal Brain Female	brain
4	chr3:196171400-196198600	Weak transcription	Ovary	ovary
5	chr3:196171600-196191000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:196171800-196197600	Weak transcription	Brain Anterior Caudate	brain
7	chr3:196171800-196198200	Weak transcription	NHDF-Ad	bronchial
8	chr3:196172200-196198200	Weak transcription	Aorta	Aorta
9	chr3:196173000-196198600	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:196173200-196198200	Weak transcription	Brain Angular Gyrus	brain
11	chr3:196174800-196195200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:196174800-196198200	Weak transcription	Right Ventricle	heart
13	chr3:196175200-196198200	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:196175200-196198400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:196177000-196198400	Weak transcription	Pancreas	Pancrea
16	chr3:196177200-196198200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:196177400-196195400	Weak transcription	Liver	Liver
18	chr3:196177800-196198200	Weak transcription	Gastric	stomach
19	chr3:196177800-196198600	Weak transcription	Small Intestine	intestine
20	chr3:196178000-196191400	Weak transcription	Fetal Stomach	stomach
21	chr3:196178200-196191400	Weak transcription	Thymus	Thymus
22	chr3:196178200-196195800	Weak transcription	Dnd41	blood
23	chr3:196178200-196197400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr3:196178200-196197600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:196178200-196198000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:196178200-196198400	Weak transcription	Brain Germinal Matrix	brain
27	chr3:196178200-196198600	Weak transcription	Psoas Muscle	Psoas
28	chr3:196180000-196194000	Weak transcription	Fetal Thymus	thymus
29	chr3:196180400-196194200	Weak transcription	Primary B cells from cord blood	blood
30	chr3:196180400-196197400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr3:196180600-196197400	Weak transcription	Adipose Nuclei	Adipose
32	chr3:196180600-196198400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr3:196182200-196194200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:196182200-196197600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr3:196182200-196198000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr3:196182200-196198200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:196182200-196213600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr3:196182400-196198000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr3:196182600-196198400	Weak transcription	Left Ventricle	heart
40	chr3:196182800-196190600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:196182800-196197400	Weak transcription	Primary T cells from cord blood	blood
42	chr3:196183000-196197600	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:196183000-196198400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:196184600-196194600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr3:196184600-196198200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:196184800-196193600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr3:196184800-196194600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:196185000-196194200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr3:196185000-196194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:196185000-196196400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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