Variant report

Variant	esv3342503
Chromosome Location	chr5:178648246-178652744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:178650614..178652876-chr5:178653305..178655920,2	K562	blood:
2	chr5:178649094..178651976-chr5:178660819..178662665,2	MCF-7	breast:
3	chr5:178650071..178651966-chr5:178658345..178660809,2	MCF-7	breast:

Extended variants
information (count: 313 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572384453	chr5:178648250-178648251	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141417777	chr5:178648270-178648271	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557994574	chr5:178648279-178648280	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187046674	chr5:178648291-178648292	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114392373	chr5:178648321-178648322	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146989490	chr5:178648363-178648364	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1643811	chr5:178648369-178648370	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs376245853	chr5:178648406-178648407	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs191436969	chr5:178648414-178648415	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs138080457	chr5:178648418-178648419	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs540412050	chr5:178648438-178648439	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs72818658	chr5:178648450-178648451	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559155874	chr5:178648465-178648466	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs569659432	chr5:178648478-178648479	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs77801323	chr5:178648511-178648512	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs549096988	chr5:178648532-178648533	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs546272231	chr5:178648551-178648552	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs568699533	chr5:178648632-178648633	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs536043437	chr5:178648648-178648649	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs562757399	chr5:178648675-178648676	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs554522295	chr5:178648681-178648682	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531703465	chr5:178648685-178648686	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs77838301	chr5:178648710-178648711	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs538599435	chr5:178648720-178648721	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs539455845	chr5:178648721-178648722	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs558094357	chr5:178648727-178648728	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs542188236	chr5:178648739-178648740	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs576352332	chr5:178648757-178648758	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs140997135	chr5:178648790-178648791	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs184531079	chr5:178648795-178648796	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs562391307	chr5:178648800-178648801	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs187829447	chr5:178648825-178648826	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs540797522	chr5:178648859-178648860	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs527921867	chr5:178648884-178648885	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs368542593	chr5:178648971-178648972	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs79609403	chr5:178648984-178648985	Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs553822955	chr5:178649019-178649020	Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs533212198	chr5:178649020-178649021	Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs544964715	chr5:178649028-178649029	Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs563343033	chr5:178649056-178649057	Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs530496803	chr5:178649102-178649103	Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs549134006	chr5:178649130-178649131	Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs567336705	chr5:178649157-178649158	Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs150207747	chr5:178649213-178649214	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77607225	chr5:178649270-178649271	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558575450	chr5:178649274-178649275	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13173873	chr5:178649283-178649284	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs540169049	chr5:178649329-178649330	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551983853	chr5:178649346-178649347	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367686309	chr5:178649375-178649376	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	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
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178619800-178650200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:178620200-178650200	Weak transcription	Fetal Lung	lung
3	chr5:178631800-178649800	Weak transcription	Gastric	stomach
4	chr5:178638200-178656600	Weak transcription	HSMMtube	muscle
5	chr5:178644200-178654200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:178644600-178653800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:178644800-178650600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:178645000-178650200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:178645000-178650400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:178645000-178651800	Weak transcription	HSMM	muscle
11	chr5:178645000-178667800	Weak transcription	Right Atrium	heart
12	chr5:178645200-178650200	Weak transcription	Osteobl	bone
13	chr5:178645200-178650400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:178645800-178649000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:178646200-178650200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:178646200-178650400	Weak transcription	NHLF	lung
17	chr5:178646200-178650600	Weak transcription	Adipose Nuclei	Adipose
18	chr5:178646200-178650800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:178646400-178648600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:178647000-178650200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:178647400-178650000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:178647600-178648400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:178647800-178650200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:178647800-178650200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:178648000-178648800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:178648000-178650400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:178648200-178648400	Genic enhancers	Spleen	Spleen
28	chr5:178648400-178648600	Transcr. at gene 5' and 3'	Spleen	Spleen
29	chr5:178648400-178650600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:178648600-178649000	Active TSS	Spleen	Spleen
31	chr5:178648600-178654200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:178648800-178649600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:178649000-178649200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr5:178649000-178649800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:178649000-178650200	Weak transcription	Spleen	Spleen
36	chr5:178649600-178650800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:178649600-178652800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:178649800-178650000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr5:178649800-178650200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:178649800-178651000	ZNF genes & repeats	Gastric	stomach
41	chr5:178649800-178652600	ZNF genes & repeats	Fetal Stomach	stomach
42	chr5:178650000-178652800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:178650200-178650600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:178650200-178651000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:178650200-178651000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
46	chr5:178650200-178651000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:178650200-178651000	ZNF genes & repeats	Fetal Brain Male	brain
48	chr5:178650200-178651000	ZNF genes & repeats	Fetal Kidney	kidney
49	chr5:178650200-178651200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr5:178650200-178651200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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