Variant report

Variant	esv3343020
Chromosome Location	chr2:127869970-127870420
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	chr2:127821604..127823983-chr2:127869382..127870898,2	K562	blood:

Variant related genes	Relation type
ENSG00000136717	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547989019	chr2:127869972-127869973	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs183546961	chr2:127869974-127869975	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs36085158	chr2:127869982-127869983	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs561229762	chr2:127870041-127870042	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs35773427	chr2:127870150-127870151	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs13419729	chr2:127870154-127870155	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34796534	chr2:127870208-127870209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs79351969	chr2:127870240-127870241	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552935401	chr2:127870259-127870260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186966914	chr2:127870260-127870261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546928219	chr2:127870271-127870272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs75428420	chr2:127870278-127870279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs566861614	chr2:127870322-127870323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539089538	chr2:127870395-127870396	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127865800-127873000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:127866200-127872400	Weak transcription	Fetal Intestine Large	intestine
3	chr2:127866200-127873200	Weak transcription	Gastric	stomach
4	chr2:127866800-127872600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:127867200-127873000	Weak transcription	A549	lung
6	chr2:127867400-127874800	Weak transcription	Brain Anterior Caudate	brain
7	chr2:127868200-127870200	Enhancers	Brain Hippocampus Middle	brain
8	chr2:127868800-127870200	Bivalent Enhancer	HepG2	liver
9	chr2:127869200-127870200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:127869400-127870000	Enhancers	Brain Angular Gyrus	brain
11	chr2:127869600-127870000	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:127869600-127872400	Weak transcription	Liver	Liver
13	chr2:127869800-127871200	Weak transcription	Brain Substantia Nigra	brain
14	chr2:127870000-127873000	Weak transcription	Brain Angular Gyrus	brain
15	chr2:127870000-127873000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:127870200-127872200	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:127870200-127873000	Weak transcription	Brain Inferior Temporal Lobe	brain

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