Variant report

Variant	esv3341758
Chromosome Location	chr2:210303162-210303519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7608830	chr2:210303191-210303192	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548162827	chr2:210303211-210303212	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375075241	chr2:210303251-210303252	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7608854	chr2:210303256-210303257	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs147237798	chr2:210303263-210303264	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139051259	chr2:210303282-210303283	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181631650	chr2:210303293-210303294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7594842	chr2:210303311-210303312	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs547232259	chr2:210303322-210303323	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7568431	chr2:210303380-210303381	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs76088182	chr2:210303455-210303456	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Mantle cell lymphoma	21518781	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210293200-210304000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:210297200-210306200	Weak transcription	Aorta	Aorta
3	chr2:210297200-210306400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:210297400-210303400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:210297400-210307400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:210298200-210306400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:210298200-210307200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:210298200-210309200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:210300400-210305400	Weak transcription	Brain Germinal Matrix	brain
10	chr2:210300400-210306400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:210300400-210312400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:210301400-210306200	Weak transcription	Fetal Brain Female	brain
13	chr2:210302000-210306200	Weak transcription	Fetal Brain Male	brain
14	chr2:210302400-210304600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:210302800-210303200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:210303200-210303400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:210303400-210303600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:210303400-210308800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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