Variant report

Variant	esv3448300
Chromosome Location	chr3:136509754-136510212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:136499197..136501261-chr3:136509704..136512204,2	K562	blood:
2	chr3:136505315..136507042-chr3:136508359..136510151,2	K562	blood:
3	chr3:136470803..136472971-chr3:136508761..136512286,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261758	chromatin interactions
ENSG00000118007	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6793936	chr3:136509793-136509794	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562131224	chr3:136509806-136509807	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs546865082	chr3:136509842-136509843	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs551454519	chr3:136509847-136509848	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs564873445	chr3:136509862-136509863	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs79470404	chr3:136509875-136509876	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs547565723	chr3:136509929-136509930	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs567488405	chr3:136509949-136509950	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547139104	chr3:136510009-136510010	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs75976571	chr3:136510052-136510053	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186058777	chr3:136510055-136510056	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs537898114	chr3:136510075-136510076	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs535625108	chr3:136510110-136510111	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs372166046	chr3:136510111-136510112	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs558221111	chr3:136510163-136510164	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs578000711	chr3:136510166-136510167	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18511947	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136506400-136511400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:136506400-136521000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:136506600-136510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:136506600-136511200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:136506600-136511200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:136506600-136511200	Weak transcription	Brain Anterior Caudate	brain
7	chr3:136506600-136511200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:136506600-136511200	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:136506600-136511200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:136506600-136511200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:136506600-136511200	Weak transcription	Fetal Brain Male	brain
12	chr3:136506600-136511400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:136506600-136511800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:136506600-136521000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:136506600-136521200	Weak transcription	Hela-S3	cervix
16	chr3:136506800-136511200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:136506800-136511400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:136506800-136511600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:136506800-136511800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:136507200-136510800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:136507200-136511200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:136507200-136511200	Weak transcription	Brain Angular Gyrus	brain
23	chr3:136507400-136511200	Weak transcription	Brain Substantia Nigra	brain
24	chr3:136508800-136513600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr3:136509000-136511000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:136509200-136510200	Weak transcription	Adipose Nuclei	Adipose
27	chr3:136510000-136511400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:136510200-136510400	Enhancers	Adipose Nuclei	Adipose

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