Variant report

Variant	esv3371571
Chromosome Location	chr5:127334053-127338651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:127331855..127334905-chr5:127335179..127338321,4	K562	blood:
2	chr5:127332389..127335376-chr5:127338224..127340344,3	K562	blood:
3	chr5:127333339..127335775-chr5:127336111..127338824,2	MCF-7	breast:
4	chr5:127332053..127334905-chr5:127335179..127338060,4	K562	blood:
5	chr5:127333537..127335671-chr5:127340331..127342151,2	MCF-7	breast:
6	chr5:127333339..127335775-chr5:127336111..127338824,2	MCF-7	breast:
7	chr5:127331855..127334905-chr5:127335179..127338321,4	K562	blood:
8	chr5:127332053..127334905-chr5:127335179..127338060,4	K562	blood:
9	chr5:127330309..127331833-chr5:127336258..127338063,2	K562	blood:
10	chr5:127334451..127336663-chr5:127338395..127340537,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBN2-1	chr5:127338387-127338514	ENSG00000245937
2	lnc-FBN2-2	chr5:127338041-127339371	NONHSAT103649
3	lnc-FBN2-2	chr5:127338221-127338514	ENSG00000245937.3

No data

Variant related genes	Relation type
ENSG00000245937	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563794735	chr5:127334131-127334132	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs79807562	chr5:127334132-127334133	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs56275766	chr5:127334203-127334204	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs34498802	chr5:127334255-127334256	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4345354	chr5:127334277-127334278	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs35030057	chr5:127334314-127334315	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564851661	chr5:127334336-127334337	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs143903249	chr5:127334356-127334357	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529130377	chr5:127334357-127334358	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546096198	chr5:127334375-127334376	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146224127	chr5:127334376-127334377	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs6868586	chr5:127334412-127334413	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528250647	chr5:127334488-127334489	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551308507	chr5:127334508-127334509	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114176127	chr5:127334519-127334520	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559060629	chr5:127334524-127334525	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190667166	chr5:127334540-127334541	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537576604	chr5:127334549-127334550	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375424113	chr5:127334564-127334565	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs572802154	chr5:127334622-127334623	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181692800	chr5:127334669-127334670	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs139176681	chr5:127334713-127334714	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144015235	chr5:127334770-127334771	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150929567	chr5:127334857-127334858	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539196592	chr5:127334938-127334939	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558744061	chr5:127334942-127334943	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577305846	chr5:127335021-127335022	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs115211707	chr5:127335066-127335067	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562941729	chr5:127335090-127335091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140665641	chr5:127335124-127335125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs559123210	chr5:127335210-127335211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530647490	chr5:127335222-127335223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187164465	chr5:127335236-127335237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs150063075	chr5:127335288-127335289	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528391154	chr5:127335322-127335323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs191097960	chr5:127335377-127335378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs145387516	chr5:127335411-127335412	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531023801	chr5:127335527-127335528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551133727	chr5:127335532-127335533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76580053	chr5:127335594-127335595	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs530054585	chr5:127335633-127335634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs546702035	chr5:127335644-127335645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567121066	chr5:127335738-127335739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs35624616	chr5:127335745-127335746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs34803826	chr5:127335749-127335750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539000417	chr5:127335764-127335765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558707374	chr5:127335826-127335827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs142571257	chr5:127335827-127335828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs533430288	chr5:127335839-127335840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs146713747	chr5:127335886-127335887	Weak transcription Enhancers	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127297800-127358400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:127323800-127338200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:127324000-127350400	Weak transcription	HSMMtube	muscle
4	chr5:127324200-127334800	Weak transcription	K562	blood
5	chr5:127324200-127342800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:127324400-127334400	Weak transcription	Gastric	stomach
7	chr5:127324400-127337400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:127324400-127337400	Weak transcription	HMEC	breast
9	chr5:127324400-127337600	Weak transcription	NHEK	skin
10	chr5:127324400-127354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:127324400-127358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:127326200-127334800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:127326400-127359400	Weak transcription	GM12878-XiMat	blood
14	chr5:127327800-127359400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:127328200-127379800	Weak transcription	Esophagus	oesophagus
16	chr5:127329400-127351600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:127329800-127334800	Weak transcription	A549	lung
18	chr5:127330200-127337400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:127330400-127337400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:127331600-127334200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:127331600-127334400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr5:127331800-127335600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr5:127331800-127345000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:127332000-127335400	Enhancers	Stomach Mucosa	stomach
25	chr5:127332200-127335600	Enhancers	Fetal Intestine Large	intestine
26	chr5:127332200-127335800	Enhancers	Duodenum Mucosa	Duodenum
27	chr5:127332200-127335800	Enhancers	Fetal Intestine Small	intestine
28	chr5:127332400-127337400	Weak transcription	Primary B cells from cord blood	blood
29	chr5:127332400-127388800	Weak transcription	Aorta	Aorta
30	chr5:127333200-127335800	Enhancers	Small Intestine	intestine
31	chr5:127333400-127335000	Strong transcription	Primary T cells from cord blood	blood
32	chr5:127333600-127334400	Weak transcription	Lung	lung
33	chr5:127333600-127334600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr5:127333600-127338200	Weak transcription	Ovary	ovary
35	chr5:127333600-127339400	Weak transcription	Right Ventricle	heart
36	chr5:127333600-127341600	Weak transcription	Psoas Muscle	Psoas
37	chr5:127333600-127354200	Weak transcription	Left Ventricle	heart
38	chr5:127333600-127358200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:127333600-127358400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:127333600-127388800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
42	chr5:127333800-127334400	Weak transcription	Right Atrium	heart
43	chr5:127333800-127370800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr5:127334000-127335600	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:127334400-127334600	Enhancers	Lung	lung
46	chr5:127334400-127334600	Enhancers	Right Atrium	heart
47	chr5:127334400-127335000	Enhancers	Gastric	stomach
48	chr5:127334600-127394000	Weak transcription	Lung	lung
49	chr5:127334800-127335000	Enhancers	Stomach Smooth Muscle	stomach
50	chr5:127334800-127335400	Enhancers	K562	blood

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