Variant report

Variant	esv3463178
Chromosome Location	chr3:195653383-195653940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:195637314..195639041-chr3:195651687..195654155,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226155	chromatin interactions
ENSG00000061938	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:50 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554936043	chr3:195653401-195653402	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs573729232	chr3:195653470-195653471	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs73208018	chr3:195653472-195653473	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192694022	chr3:195653510-195653511	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs533326810	chr3:195653519-195653520	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs58759805	chr3:195653525-195653526	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs75992976	chr3:195653526-195653527	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs78571898	chr3:195653543-195653544	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs79774115	chr3:195653546-195653547	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs397876878	chr3:195653547-195653548	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs113755682	chr3:195653553-195653554	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs545736027	chr3:195653560-195653561	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs112033665	chr3:195653564-195653565	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs183217663	chr3:195653592-195653593	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs530938034	chr3:195653603-195653604	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs549439185	chr3:195653617-195653618	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572812238	chr3:195653621-195653622	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs528620938	chr3:195653622-195653623	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs541677792	chr3:195653623-195653624	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs565889948	chr3:195653630-195653631	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs376708276	chr3:195653631-195653632	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs539211840	chr3:195653637-195653638	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs371329582	chr3:195653641-195653642	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs557642891	chr3:195653655-195653656	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs549947656	chr3:195653656-195653657	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs565154545	chr3:195653667-195653668	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs112640524	chr3:195653673-195653674	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs532836563	chr3:195653678-195653679	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs112028360	chr3:195653681-195653682	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs551066102	chr3:195653686-195653687	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs386670110	chr3:195653691-195653692	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs572239009	chr3:195653697-195653698	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs569658704	chr3:195653702-195653703	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs113592852	chr3:195653714-195653715	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs370468598	chr3:195653731-195653732	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs536946920	chr3:195653740-195653741	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs374728465	chr3:195653746-195653747	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs188078256	chr3:195653750-195653751	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs112376541	chr3:195653765-195653766	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs566424524	chr3:195653772-195653773	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs112375159	chr3:195653776-195653777	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs533547811	chr3:195653809-195653810	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs6786626	chr3:195653810-195653811	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs578125653	chr3:195653820-195653821	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs545577009	chr3:195653821-195653822	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs73208019	chr3:195653824-195653825	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531276690	chr3:195653871-195653872	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs9861325	chr3:195653873-195653874	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs112503834	chr3:195653899-195653900	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs146429713	chr3:195653927-195653928	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195642000-195656600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:195645600-195658800	Weak transcription	Fetal Intestine Small	intestine
3	chr3:195647200-195681200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:195648600-195660400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:195648600-195666600	Weak transcription	Lung	lung
6	chr3:195648600-195666600	Weak transcription	Spleen	Spleen
7	chr3:195648600-195680600	Weak transcription	Pancreas	Pancrea
8	chr3:195648800-195658200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:195648800-195666600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:195648800-195666800	Weak transcription	Esophagus	oesophagus
11	chr3:195649000-195655400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:195649800-195659200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:195651200-195656600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:195651200-195658200	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:195651200-195671200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:195651800-195673800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:195652600-195655400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:195652800-195656400	Weak transcription	HepG2	liver
19	chr3:195653000-195658400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:195653000-195666800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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