Variant report

Variant	esv3469900
Chromosome Location	chr5:127335399-127337320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127333339..127335775-chr5:127336111..127338824,2	MCF-7	breast:
2	chr5:127332053..127334905-chr5:127335179..127338060,4	K562	blood:
3	chr5:127334451..127336663-chr5:127338395..127340537,2	K562	blood:
4	chr5:127330309..127331833-chr5:127336258..127338063,2	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:

Variant related genes	Relation type
ENSG00000245937	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145387516	chr5:127335411-127335412	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531023801	chr5:127335527-127335528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551133727	chr5:127335532-127335533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs76580053	chr5:127335594-127335595	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530054585	chr5:127335633-127335634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546702035	chr5:127335644-127335645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567121066	chr5:127335738-127335739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35624616	chr5:127335745-127335746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs34803826	chr5:127335749-127335750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539000417	chr5:127335764-127335765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs558707374	chr5:127335826-127335827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142571257	chr5:127335827-127335828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533430288	chr5:127335839-127335840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs146713747	chr5:127335886-127335887	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536740435	chr5:127335992-127335993	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368662609	chr5:127336000-127336001	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200961168	chr5:127336001-127336002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201966569	chr5:127336002-127336003	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs199817443	chr5:127336004-127336005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs62373664	chr5:127336074-127336075	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181309889	chr5:127336089-127336090	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs185536203	chr5:127336228-127336229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189615356	chr5:127336245-127336246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552727116	chr5:127336253-127336254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141637546	chr5:127336310-127336311	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs369754998	chr5:127336429-127336430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs199526441	chr5:127336444-127336445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs3082340	chr5:127336446-127336447	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545368195	chr5:127336489-127336490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565062090	chr5:127336531-127336532	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566712039	chr5:127336549-127336550	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530679810	chr5:127336782-127336783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544421001	chr5:127336795-127336796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182224044	chr5:127336815-127336816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372722982	chr5:127336905-127336906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58418624	chr5:127336908-127336909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs62373665	chr5:127336946-127336947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57710964	chr5:127336950-127336951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200653697	chr5:127336951-127336952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201604524	chr5:127336953-127336954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62373685	chr5:127336954-127336955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61561391	chr5:127336955-127336956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4836355	chr5:127336956-127336957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34477685	chr5:127336957-127336958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371063311	chr5:127337060-127337061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4835937	chr5:127337086-127337087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs546959020	chr5:127337172-127337173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200463440	chr5:127337188-127337189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200340431	chr5:127337189-127337190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566784227	chr5:127337265-127337266	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
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:46 , 50 per page) page: 1

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	chr5:127324200-127342800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:127324400-127337400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:127324400-127337400	Weak transcription	HMEC	breast
7	chr5:127324400-127337600	Weak transcription	NHEK	skin
8	chr5:127324400-127354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:127324400-127358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:127326400-127359400	Weak transcription	GM12878-XiMat	blood
11	chr5:127327800-127359400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:127328200-127379800	Weak transcription	Esophagus	oesophagus
13	chr5:127329400-127351600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:127330200-127337400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:127330400-127337400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:127331800-127335600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:127331800-127345000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:127332000-127335400	Enhancers	Stomach Mucosa	stomach
19	chr5:127332200-127335600	Enhancers	Fetal Intestine Large	intestine
20	chr5:127332200-127335800	Enhancers	Duodenum Mucosa	Duodenum
21	chr5:127332200-127335800	Enhancers	Fetal Intestine Small	intestine
22	chr5:127332400-127337400	Weak transcription	Primary B cells from cord blood	blood
23	chr5:127332400-127388800	Weak transcription	Aorta	Aorta
24	chr5:127333200-127335800	Enhancers	Small Intestine	intestine
25	chr5:127333600-127338200	Weak transcription	Ovary	ovary
26	chr5:127333600-127339400	Weak transcription	Right Ventricle	heart
27	chr5:127333600-127341600	Weak transcription	Psoas Muscle	Psoas
28	chr5:127333600-127354200	Weak transcription	Left Ventricle	heart
29	chr5:127333600-127358200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:127333600-127358400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:127333600-127388800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
33	chr5:127333800-127370800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:127334000-127335600	Weak transcription	Colon Smooth Muscle	Colon
35	chr5:127334600-127394000	Weak transcription	Lung	lung
36	chr5:127334800-127335400	Enhancers	K562	blood
37	chr5:127334800-127336000	Enhancers	A549	lung
38	chr5:127335000-127337400	Weak transcription	Gastric	stomach
39	chr5:127335000-127355800	Weak transcription	Primary T cells from cord blood	blood
40	chr5:127335000-127397600	Weak transcription	NHDF-Ad	bronchial
41	chr5:127335600-127336000	Enhancers	Colon Smooth Muscle	Colon
42	chr5:127335600-127336000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr5:127335800-127349400	Weak transcription	Fetal Intestine Small	intestine
44	chr5:127336000-127338000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr5:127336000-127343200	Weak transcription	A549	lung
46	chr5:127336800-127375000	Weak transcription	Primary T cells fromperipheralblood	blood

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