Variant report

Variant	esv3421549
Chromosome Location	chr5:127170353-127175251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127172554..127175217-chr5:127418904..127421266,2	K562	blood:
2	chr5:127170472..127172876-chr5:127173742..127176446,2	K562	blood:
3	chr5:127093555..127095381-chr5:127175132..127176761,2	MCF-7	breast:
4	chr5:127170472..127172876-chr5:127173742..127176446,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBN2-3	chr5:127174178-127174374	XLOC_004992

Variant related genes	Relation type
ENSG00000064651	chromatin interactions

Extended variants
information (count: 166 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569156553	chr5:127170356-127170357	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562040898	chr5:127170357-127170358	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531163171	chr5:127170369-127170370	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182305617	chr5:127170381-127170382	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111516619	chr5:127170388-127170389	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149065983	chr5:127170389-127170390	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189372295	chr5:127170427-127170428	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs17164626	chr5:127170452-127170453	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs376076240	chr5:127170474-127170475	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs73783992	chr5:127170553-127170554	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554419787	chr5:127170580-127170581	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs200191009	chr5:127170590-127170591	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs181435846	chr5:127170622-127170623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151849	chr5:127170643-127170644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs185870674	chr5:127170668-127170669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189943732	chr5:127170673-127170674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73347046	chr5:127170691-127170692	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186070659	chr5:127170705-127170706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115003190	chr5:127170764-127170765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201811929	chr5:127170823-127170824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35086862	chr5:127170824-127170825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs397882396	chr5:127170828-127170829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190889181	chr5:127170882-127170883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151884	chr5:127170893-127170894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542001223	chr5:127170912-127170913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561931191	chr5:127170944-127170945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556551321	chr5:127170952-127170953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527754092	chr5:127170983-127170984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541490848	chr5:127171026-127171027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564455469	chr5:127171051-127171052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77954662	chr5:127171138-127171139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549810736	chr5:127171216-127171217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569968625	chr5:127171219-127171220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs151153735	chr5:127171220-127171221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549130335	chr5:127171240-127171241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182912124	chr5:127171267-127171268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534935374	chr5:127171278-127171279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547454602	chr5:127171292-127171293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140101188	chr5:127171308-127171309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150284506	chr5:127171326-127171327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs36040875	chr5:127171351-127171352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556200565	chr5:127171374-127171375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576366961	chr5:127171408-127171409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368253959	chr5:127171409-127171410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572152663	chr5:127171558-127171559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187784765	chr5:127171598-127171599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192531618	chr5:127171620-127171621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372545826	chr5:127171636-127171637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182893323	chr5:127171648-127171649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114591648	chr5:127171674-127171675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127161200-127170400	Weak transcription	Ovary	ovary
2	chr5:127169600-127170400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr5:127169600-127170600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:127169600-127171200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:127169600-127171200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:127169600-127171200	Enhancers	HSMM	muscle
7	chr5:127169800-127170400	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr5:127169800-127170400	Enhancers	A549	lung
9	chr5:127169800-127170600	Enhancers	Colon Smooth Muscle	Colon
10	chr5:127170000-127170400	Enhancers	HSMMtube	muscle
11	chr5:127170000-127170600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:127170000-127170800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:127170000-127171200	Enhancers	Fetal Kidney	kidney
14	chr5:127170200-127170400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:127170200-127170600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:127170200-127171200	Enhancers	Adipose Nuclei	Adipose
17	chr5:127170200-127172000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:127170200-127174400	Weak transcription	NHDF-Ad	bronchial
19	chr5:127170400-127170600	Enhancers	Fetal Intestine Large	intestine
20	chr5:127170400-127170800	Weak transcription	HSMMtube	muscle
21	chr5:127170400-127171600	Enhancers	Ovary	ovary
22	chr5:127170400-127173800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:127170400-127180400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:127170600-127170800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:127170600-127171800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:127170800-127171400	Enhancers	HSMMtube	muscle
27	chr5:127170800-127174600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:127171000-127172600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:127171200-127172000	Weak transcription	HSMM	muscle
30	chr5:127171200-127174400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:127171200-127174400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr5:127171400-127174400	Weak transcription	HSMMtube	muscle
33	chr5:127172000-127172200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:127172200-127174400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:127172400-127173000	Weak transcription	HSMM	muscle
36	chr5:127173200-127174200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:127173800-127174200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:127173800-127175000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr5:127173800-127176600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:127174200-127174400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:127174200-127174400	Weak transcription	HSMM	muscle
42	chr5:127174200-127174600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:127174200-127174600	Enhancers	Primary hematopoietic stem cells	blood
44	chr5:127174200-127174800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:127174200-127174800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr5:127174200-127174800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:127174200-127175000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:127174200-127175000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr5:127174200-127175000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:127174200-127175000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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