Variant report

Variant	nsv523636
Chromosome Location	chr5:177606419-177608195
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177606946..177609257-chr5:177631004..177633019,2	MCF-7	breast:
2	chr5:177604192..177606975-chr5:177607801..177609756,2	MCF-7	breast:
3	chr5:177607704..177609339-chr5:177631381..177632987,2	MCF-7	breast:
4	chr5:177605204..177607024-chr5:177611058..177613922,2	MCF-7	breast:
5	chr5:177604347..177606452-chr5:177626803..177628978,2	MCF-7	breast:
6	chr5:177605439..177607840-chr5:177629725..177632123,2	K562	blood:
7	chr5:177604192..177606975-chr5:177607801..177609756,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197451	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6897795	chr5:177606419-177606420	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35905588	chr5:177606443-177606444	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542012941	chr5:177606480-177606481	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191833657	chr5:177606506-177606507	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573303591	chr5:177606510-177606511	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540361881	chr5:177606576-177606577	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569658298	chr5:177606649-177606650	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs184055426	chr5:177606699-177606700	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532415683	chr5:177606744-177606745	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149258412	chr5:177606746-177606747	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144517538	chr5:177606779-177606780	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563204174	chr5:177606924-177606925	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs79535104	chr5:177606929-177606930	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548783288	chr5:177606952-177606953	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566408997	chr5:177606969-177606970	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs199585970	chr5:177606987-177606988	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527362947	chr5:177607005-177607006	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs114356029	chr5:177607047-177607048	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568645875	chr5:177607052-177607053	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186569730	chr5:177607107-177607108	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs556139414	chr5:177607109-177607110	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568365795	chr5:177607148-177607149	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535261656	chr5:177607210-177607211	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs147981141	chr5:177607320-177607321	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs553693426	chr5:177607395-177607396	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs571937260	chr5:177607418-177607419	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540324803	chr5:177607559-177607560	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558665568	chr5:177607560-177607561	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs191303836	chr5:177607598-177607599	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs34313009	chr5:177607618-177607619	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544201246	chr5:177607641-177607642	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549102966	chr5:177607671-177607672	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs368879727	chr5:177607781-177607782	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs576922149	chr5:177607785-177607786	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs6891641	chr5:177607811-177607812	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs530436196	chr5:177607819-177607820	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs141645971	chr5:177607831-177607832	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs542188546	chr5:177607856-177607857	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs6883816	chr5:177607896-177607897	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs527931413	chr5:177607898-177607899	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531743551	chr5:177607905-177607906	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200421338	chr5:177607927-177607928	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs527938245	chr5:177607933-177607934	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs199729629	chr5:177607937-177607938	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552262946	chr5:177607965-177607966	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs11249793	chr5:177607989-177607990	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs374915738	chr5:177608013-177608014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531306535	chr5:177608072-177608073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs6884012	chr5:177608081-177608082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs185404044	chr5:177608106-177608107	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177598200-177606600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:177601000-177606600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:177605200-177609000	Weak transcription	Fetal Thymus	thymus
4	chr5:177605400-177606600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:177605400-177606800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:177605400-177606800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:177605400-177607400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:177605400-177608400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:177605400-177608800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:177605400-177609400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:177605600-177606600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:177605600-177606600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:177605600-177606600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:177605600-177606600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:177605600-177606600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:177605600-177606600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:177606400-177606600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:177606400-177607200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr5:177606600-177606800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr5:177606600-177606800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr5:177606600-177606800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:177606600-177606800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr5:177606600-177607000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:177606600-177607000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr5:177606600-177607000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr5:177606600-177607200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:177606600-177607600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:177606600-177607800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:177606600-177610800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:177606800-177607000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
31	chr5:177606800-177607200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
32	chr5:177606800-177607200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr5:177606800-177607200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr5:177606800-177607600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr5:177606800-177609000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:177607000-177607400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr5:177607000-177607400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:177607000-177607800	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr5:177607000-177608000	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr5:177607200-177607400	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr5:177607200-177607400	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr5:177607200-177607400	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr5:177607200-177607800	Active TSS	H9 Cell Line	embryonic stem cell
44	chr5:177607200-177609400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:177607400-177607600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr5:177607400-177607600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr5:177607400-177607600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr5:177607400-177607600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr5:177607400-177607800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr5:177607400-177608400	Enhancers	K562	blood

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