Variant report

Variant	esv3369153
Chromosome Location	chr3:178886287-178886763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:178865422..178866948-chr3:178884779..178886698,2	K562	blood:
2	chr3:178884097..178886726-chr3:178940111..178942496,2	K562	blood:
3	chr3:178864911..178866513-chr3:178885186..178888175,2	MCF-7	breast:
4	chr3:178884535..178886468-chr3:178887552..178889136,2	K562	blood:

Variant related genes	Relation type
ENSG00000121879	chromatin interactions
ENSG00000229102	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112412586	chr3:178886302-178886303	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs552948349	chr3:178886342-178886343	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs140920710	chr3:178886379-178886380	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs73882958	chr3:178886394-178886395	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs531937895	chr3:178886437-178886438	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs555519935	chr3:178886457-178886458	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs543011013	chr3:178886501-178886502	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs559809678	chr3:178886502-178886503	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs540447031	chr3:178886510-178886511	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs116648543	chr3:178886536-178886537	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs35316689	chr3:178886537-178886538	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs543394541	chr3:178886539-178886540	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs563184082	chr3:178886542-178886543	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs34187854	chr3:178886571-178886572	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs528961386	chr3:178886596-178886597	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs61796463	chr3:178886602-178886603	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs7641889	chr3:178886609-178886610	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs562230090	chr3:178886615-178886616	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534062192	chr3:178886676-178886677	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs527910662	chr3:178886705-178886706	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs7641983	chr3:178886709-178886710	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs113518334	chr3:178886719-178886720	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs570551431	chr3:178886720-178886721	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs539407910	chr3:178886732-178886733	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs144852256	chr3:178886751-178886752	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	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
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Autism	20685689	CNVD
Human papillomavirus	17975027	CNVD
Adenocarcinoma	18757405	CNVD
Lung cancer	18757405	CNVD
Squamous cell cancer	18757405	CNVD
small cell lung cancer	18757405	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178867800-178900200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:178868000-178892400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:178868600-178893000	Weak transcription	Aorta	Aorta
4	chr3:178869200-178898000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:178869400-178887200	Weak transcription	Fetal Brain Male	brain
6	chr3:178870800-178896400	Weak transcription	K562	blood
7	chr3:178874800-178888600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr3:178877400-178897800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:178879200-178891800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr3:178879400-178892000	Weak transcription	Lung	lung
11	chr3:178879400-178896400	Weak transcription	Right Atrium	heart
12	chr3:178879600-178896400	Weak transcription	Left Ventricle	heart
13	chr3:178880400-178887800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:178883400-178887800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:178883600-178892400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:178883600-178893600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:178883800-178905800	Weak transcription	Fetal Kidney	kidney
18	chr3:178884800-178887800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:178884800-178888400	Weak transcription	Fetal Lung	lung
20	chr3:178885600-178886800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:178885600-178886800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr3:178885800-178887800	Weak transcription	Adipose Nuclei	Adipose
23	chr3:178886600-178887200	Enhancers	Hela-S3	cervix
24	chr3:178886600-178887400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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