Variant report

Variant	esv3398477
Chromosome Location	chr2:173931056-173932104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173928959..173932871-chr2:173938531..173941306,7	MCF-7	breast:
2	chr2:173930762..173936707-chr2:173937073..173941101,12	MCF-7	breast:
3	chr2:173931458..173934623-chr2:173936258..173938174,3	MCF-7	breast:
4	chr2:173914420..173916630-chr2:173929011..173931353,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76841571	chr2:173931185-173931186	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs553416946	chr2:173931216-173931217	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs578045671	chr2:173931310-173931311	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs34301603	chr2:173931366-173931367	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376380271	chr2:173931403-173931404	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs143783374	chr2:173931440-173931441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34054883	chr2:173931450-173931451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368106347	chr2:173931482-173931483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372040395	chr2:173931485-173931486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369260712	chr2:173931487-173931488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs147977767	chr2:173931528-173931529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563537462	chr2:173931571-173931572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575893541	chr2:173931643-173931644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs10180382	chr2:173931711-173931712	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs187917996	chr2:173931729-173931730	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141704240	chr2:173931800-173931801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529028778	chr2:173931840-173931841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs547307765	chr2:173931858-173931859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559363477	chr2:173931869-173931870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs150535535	chr2:173931872-173931873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs115512949	chr2:173931887-173931888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs34853270	chr2:173931905-173931906	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532609094	chr2:173931915-173931916	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs192965973	chr2:173931971-173931972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11681384	chr2:173932003-173932004	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs183418511	chr2:173932006-173932007	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139491335	chr2:173932020-173932021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188503629	chr2:173932032-173932033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs192172074	chr2:173932058-173932059	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Seminomas	18059402	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173920600-173937200	Weak transcription	Psoas Muscle	Psoas
2	chr2:173928400-173932400	Weak transcription	Fetal Intestine Large	intestine
3	chr2:173929200-173932200	Weak transcription	Fetal Intestine Small	intestine
4	chr2:173929400-173931600	Weak transcription	Fetal Lung	lung
5	chr2:173930400-173931400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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