Variant report

Variant	esv3393481
Chromosome Location	chr3:195779095-195779663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:195774978..195780765-chr3:195803293..195810200,8	K562	blood:
2	chr3:195774337..195780265-chr3:195790698..195793878,6	K562	blood:
3	chr3:195773121..195775698-chr3:195778391..195781329,2	MCF-7	breast:
4	chr3:195739108..195741210-chr3:195777066..195779738,2	MCF-7	breast:
5	chr3:195775087..195781112-chr3:195806132..195810328,7	K562	blood:
6	chr3:195776479..195779102-chr3:195783509..195786726,3	K562	blood:

Variant related genes	Relation type
ENSG00000072274	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542986088	chr3:195779105-195779106	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs41298097	chr3:195779155-195779156	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570183247	chr3:195779164-195779165	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs41298095	chr3:195779173-195779174	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528513935	chr3:195779197-195779198	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561312401	chr3:195779207-195779208	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs41298093	chr3:195779263-195779264	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs188275440	chr3:195779305-195779306	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532437572	chr3:195779312-195779313	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181286914	chr3:195779383-195779384	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs41298091	chr3:195779428-195779429	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530720395	chr3:195779448-195779449	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549053001	chr3:195779458-195779459	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567519087	chr3:195779459-195779460	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534610625	chr3:195779500-195779501	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546584984	chr3:195779523-195779524	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571387285	chr3:195779555-195779556	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538384279	chr3:195779615-195779616	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs41298089	chr3:195779661-195779662	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138094421	chr3:195779662-195779663	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	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:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195762800-195780200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:195768400-195781600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:195771400-195804000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:195772400-195781000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:195773000-195802000	Strong transcription	Dnd41	blood
6	chr3:195773200-195805200	Strong transcription	Fetal Thymus	thymus
7	chr3:195773400-195800400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:195773600-195782000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr3:195773600-195790200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:195774200-195785600	Strong transcription	A549	lung
11	chr3:195774200-195791400	Strong transcription	Primary B cells from cord blood	blood
12	chr3:195774200-195800200	Strong transcription	Placenta	Placenta
13	chr3:195774200-195803800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:195774200-195804800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:195774400-195784400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:195774400-195800200	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr3:195774400-195803800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr3:195774600-195783200	Strong transcription	HMEC	breast
19	chr3:195774600-195789600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:195774600-195803800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:195774600-195805400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:195774800-195803000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:195774800-195803400	Strong transcription	Left Ventricle	heart
24	chr3:195775000-195782200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr3:195775000-195782600	Strong transcription	Liver	Liver
26	chr3:195775000-195796600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:195775000-195798800	Strong transcription	Thymus	Thymus
28	chr3:195775000-195803200	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr3:195775000-195806600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:195775200-195784200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr3:195775200-195784200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:195775200-195784200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:195775200-195796600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr3:195775200-195802800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr3:195775200-195804000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:195775200-195804400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:195775400-195780600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr3:195775400-195782200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr3:195775400-195784000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:195775400-195784200	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr3:195775400-195797600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr3:195775400-195800400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr3:195775400-195802600	Strong transcription	Primary T cells from cord blood	blood
44	chr3:195775400-195802800	Strong transcription	Fetal Brain Female	brain
45	chr3:195775400-195803400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr3:195775400-195803800	Strong transcription	Primary hematopoietic stem cells	blood
47	chr3:195775400-195804000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr3:195775400-195804000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr3:195775600-195779200	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr3:195775600-195782000	Weak transcription	Stomach Mucosa	stomach

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