Variant report

Variant	esv3468540
Chromosome Location	chr5:127171278-127174426
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	chr5:127170472..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: 102 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534935374	chr5:127171278-127171279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547454602	chr5:127171292-127171293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140101188	chr5:127171308-127171309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150284506	chr5:127171326-127171327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs36040875	chr5:127171351-127171352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556200565	chr5:127171374-127171375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576366961	chr5:127171408-127171409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368253959	chr5:127171409-127171410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572152663	chr5:127171558-127171559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187784765	chr5:127171598-127171599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192531618	chr5:127171620-127171621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372545826	chr5:127171636-127171637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182893323	chr5:127171648-127171649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114591648	chr5:127171674-127171675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187660502	chr5:127171849-127171850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577718972	chr5:127171934-127171935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541101966	chr5:127171940-127171941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs245200	chr5:127171941-127171942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563356432	chr5:127171942-127171943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55876185	chr5:127171966-127171967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs549631865	chr5:127172008-127172009	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs559830488	chr5:127172022-127172023	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs528676771	chr5:127172048-127172049	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs192912759	chr5:127172104-127172105	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs570518126	chr5:127172145-127172146	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs184899236	chr5:127172150-127172151	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs549771361	chr5:127172172-127172173	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs370538177	chr5:127172333-127172334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373192888	chr5:127172334-127172335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377397362	chr5:127172335-127172336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367699748	chr5:127172517-127172518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569646316	chr5:127172522-127172523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75708238	chr5:127172531-127172532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529018662	chr5:127172555-127172556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549954622	chr5:127172634-127172635	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189383524	chr5:127172673-127172674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111683181	chr5:127172714-127172715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112560227	chr5:127172742-127172743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs76209594	chr5:127172751-127172752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs572293576	chr5:127172815-127172816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs114343398	chr5:127172863-127172864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs201123343	chr5:127172877-127172878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs192183176	chr5:127172944-127172945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112689911	chr5:127172946-127172947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs147095869	chr5:127172972-127172973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs113237919	chr5:127172973-127172974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112854077	chr5:127172997-127172998	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111772129	chr5:127173026-127173027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs184554038	chr5:127173141-127173142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs111383642	chr5:127173234-127173235	Weak transcription	Chromatin interactive region	1 gene(s)	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127170200-127172000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:127170200-127174400	Weak transcription	NHDF-Ad	bronchial
3	chr5:127170400-127171600	Enhancers	Ovary	ovary
4	chr5:127170400-127173800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:127170400-127180400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:127170600-127171800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:127170800-127171400	Enhancers	HSMMtube	muscle
8	chr5:127170800-127174600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:127171000-127172600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:127171200-127172000	Weak transcription	HSMM	muscle
11	chr5:127171200-127174400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:127171200-127174400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:127171400-127174400	Weak transcription	HSMMtube	muscle
14	chr5:127172000-127172200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:127172200-127174400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:127172400-127173000	Weak transcription	HSMM	muscle
17	chr5:127173200-127174200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:127173800-127174200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:127173800-127175000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr5:127173800-127176600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:127174200-127174400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:127174200-127174400	Weak transcription	HSMM	muscle
23	chr5:127174200-127174600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:127174200-127174600	Enhancers	Primary hematopoietic stem cells	blood
25	chr5:127174200-127174800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:127174200-127174800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:127174200-127174800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:127174200-127175000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:127174200-127175000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:127174200-127175000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:127174200-127175000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:127174200-127175200	Enhancers	HUVEC	blood vessel
33	chr5:127174200-127175600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr5:127174200-127176000	Enhancers	Stomach Mucosa	stomach
35	chr5:127174200-127177000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr5:127174400-127174600	Enhancers	Duodenum Mucosa	Duodenum
37	chr5:127174400-127174800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:127174400-127174800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:127174400-127174800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:127174400-127174800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:127174400-127174800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:127174400-127174800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr5:127174400-127174800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:127174400-127174800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:127174400-127174800	Enhancers	HMEC	breast
46	chr5:127174400-127174800	Enhancers	HSMM	muscle
47	chr5:127174400-127174800	Enhancers	HSMMtube	muscle
48	chr5:127174400-127174800	Enhancers	NHEK	skin
49	chr5:127174400-127175000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr5:127174400-127175000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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