Variant report

Variant	esv3406948
Chromosome Location	chr3:133340970-133341397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133340863..133343125-chr3:133378672..133381992,3	K562	blood:
2	chr3:133339967..133341714-chr3:133380275..133382295,2	MCF-7	breast:
3	chr3:133291647..133294175-chr3:133339343..133341276,2	K562	blood:
4	chr3:133337481..133339148-chr3:133339891..133342837,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163781	chromatin interactions
ENSG00000091527	chromatin interactions
ENSG00000242337	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62282417	chr3:133340970-133340971	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140050884	chr3:133340993-133340994	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs145673579	chr3:133340994-133340995	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs563152104	chr3:133340999-133341000	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs186802786	chr3:133341012-133341013	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs193018521	chr3:133341014-133341015	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs13099708	chr3:133341020-133341021	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs398052284	chr3:133341050-133341051	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs565800236	chr3:133341064-133341065	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs185743963	chr3:133341075-133341076	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs367714492	chr3:133341092-133341093	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs71331724	chr3:133341103-133341104	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs147733941	chr3:133341111-133341112	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs189869539	chr3:133341137-133341138	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs142636457	chr3:133341138-133341139	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs557448598	chr3:133341159-133341160	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs371671168	chr3:133341181-133341182	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs11717424	chr3:133341264-133341265	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538952518	chr3:133341305-133341306	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs569183183	chr3:133341354-133341355	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs77067273	chr3:133341381-133341382	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs573487802	chr3:133341382-133341383	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133306400-133342800	Weak transcription	Colonic Mucosa	Colon
2	chr3:133307400-133347200	Weak transcription	Brain Angular Gyrus	brain
3	chr3:133308200-133342200	Weak transcription	Brain Substantia Nigra	brain
4	chr3:133308200-133356000	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:133308600-133347600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:133308600-133349200	Weak transcription	Esophagus	oesophagus
7	chr3:133308600-133351600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:133308600-133352200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:133310800-133349400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:133314800-133349200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:133314800-133351600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:133316600-133377600	Strong transcription	Dnd41	blood
13	chr3:133316600-133378000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:133317000-133378200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr3:133317200-133378800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:133318400-133378600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr3:133319000-133363800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:133322200-133378200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:133322600-133378800	Weak transcription	Stomach Mucosa	stomach
20	chr3:133323200-133341000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:133323200-133378200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:133323200-133378400	Strong transcription	Fetal Thymus	thymus
23	chr3:133323200-133378800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:133323400-133378200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:133323600-133377800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr3:133323800-133378800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr3:133324200-133378200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:133325000-133345000	Weak transcription	Psoas Muscle	Psoas
29	chr3:133325200-133352800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:133325200-133353000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:133325400-133348200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr3:133326200-133347800	Strong transcription	Fetal Intestine Large	intestine
33	chr3:133327000-133362400	Weak transcription	Small Intestine	intestine
34	chr3:133327600-133351600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr3:133328000-133356400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr3:133329200-133342800	Weak transcription	Fetal Brain Male	brain
37	chr3:133329200-133358400	Weak transcription	Fetal Heart	heart
38	chr3:133329400-133358200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:133331200-133352000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:133331400-133341600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr3:133331400-133341600	Weak transcription	Brain Hippocampus Middle	brain
42	chr3:133331400-133343600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:133331400-133347200	Weak transcription	Brain Anterior Caudate	brain
44	chr3:133331400-133349400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:133331400-133349400	Weak transcription	Gastric	stomach
46	chr3:133332200-133378600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:133333400-133378000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr3:133334000-133345200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:133334000-133359200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:133334200-133348400	Strong transcription	Primary T cells from cord blood	blood

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