Variant report

Variant	esv2606171
Chromosome Location	chr2:173928830-173930264
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173925105..173930317-chr2:173940081..173942061,4	MCF-7	breast:
2	chr2:173928959..173932871-chr2:173938531..173941306,7	MCF-7	breast:
3	chr2:173914420..173916630-chr2:173929011..173931353,2	MCF-7	breast:
4	chr2:173924776..173926488-chr2:173927922..173930714,2	K562	blood:

Variant related genes	Relation type
ENSG00000091436	chromatin interactions
ENSG00000265709	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527500449	chr2:173928861-173928862	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs370367161	chr2:173928927-173928928	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs149085794	chr2:173928981-173928982	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs567850195	chr2:173929068-173929069	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs535049778	chr2:173929087-173929088	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs115512910	chr2:173929113-173929114	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs572606138	chr2:173929178-173929179	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs75752801	chr2:173929181-173929182	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs188101392	chr2:173929240-173929241	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs558210274	chr2:173929244-173929245	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs576573030	chr2:173929250-173929251	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs180949772	chr2:173929329-173929330	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs145914316	chr2:173929343-173929344	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs562146373	chr2:173929353-173929354	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs550231872	chr2:173929355-173929356	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs144190402	chr2:173929386-173929387	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs67490208	chr2:173929387-173929388	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs57897010	chr2:173929390-173929391	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs398060792	chr2:173929410-173929411	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs71018531	chr2:173929413-173929414	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs138947310	chr2:173929587-173929588	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs559786247	chr2:173929599-173929600	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs10536867	chr2:173929605-173929606	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs11692252	chr2:173929607-173929608	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs570185259	chr2:173929710-173929711	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374143543	chr2:173929712-173929713	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs556984936	chr2:173929776-173929777	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs552437879	chr2:173929796-173929797	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs570682850	chr2:173929863-173929864	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs189992129	chr2:173929866-173929867	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs539196643	chr2:173929951-173929952	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs549581679	chr2:173930016-173930017	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs115944017	chr2:173930043-173930044	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs115503363	chr2:173930067-173930068	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs73019627	chr2:173930081-173930082	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs58849888	chr2:173930140-173930141	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs181656534	chr2:173930147-173930148	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs187167608	chr2:173930151-173930152	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs191928617	chr2:173930159-173930160	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs543997098	chr2:173930213-173930214	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs201224906	chr2:173930222-173930223	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs556016578	chr2:173930229-173930230	Weak transcription Enhancers	Chromatin interactive region	2 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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173915200-173929200	Weak transcription	Fetal Lung	lung
2	chr2:173920600-173937200	Weak transcription	Psoas Muscle	Psoas
3	chr2:173925200-173930400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:173926200-173930000	Weak transcription	Ovary	ovary
5	chr2:173927200-173929200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:173927600-173929000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:173927600-173929600	Enhancers	NHEK	skin
8	chr2:173927800-173929000	Enhancers	NHDF-Ad	bronchial
9	chr2:173927800-173929200	Enhancers	HMEC	breast
10	chr2:173927800-173929600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:173928200-173929000	Enhancers	Fetal Brain Female	brain
12	chr2:173928400-173932400	Weak transcription	Fetal Intestine Large	intestine
13	chr2:173928600-173929000	Enhancers	HepG2	liver
14	chr2:173928600-173929600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:173928600-173929600	Enhancers	Fetal Brain Male	brain
16	chr2:173928600-173930200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:173928800-173929200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:173928800-173929200	Enhancers	Fetal Intestine Small	intestine
19	chr2:173928800-173929600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:173928800-173929600	Enhancers	Liver	Liver
21	chr2:173928800-173930600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:173929200-173929400	Enhancers	Fetal Lung	lung
23	chr2:173929200-173932200	Weak transcription	Fetal Intestine Small	intestine
24	chr2:173929400-173931600	Weak transcription	Fetal Lung	lung
25	chr2:173930000-173930200	Enhancers	Ovary	ovary

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