Variant report

Variant	nsv327830
Chromosome Location	chr5:107337906-107340794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:107332693..107334247-chr5:107337068..107339147,2	MCF-7	breast:

Extended variants
information (count: 95 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs288191	chr5:107337950-107337951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs367761317	chr5:107337969-107337970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529419841	chr5:107337976-107337977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147782013	chr5:107337977-107337978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371889079	chr5:107338006-107338007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6864189	chr5:107338007-107338008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs534510633	chr5:107338014-107338015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6882485	chr5:107338015-107338016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs6882486	chr5:107338017-107338018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536646580	chr5:107338033-107338034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369635612	chr5:107338055-107338056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6868458	chr5:107338062-107338063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148823041	chr5:107338144-107338145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542670930	chr5:107338185-107338186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143818666	chr5:107338216-107338217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572625728	chr5:107338226-107338227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs57618153	chr5:107338239-107338240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56794842	chr5:107338248-107338249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541654705	chr5:107338300-107338301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181818100	chr5:107338333-107338334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs288190	chr5:107338352-107338353	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs148155360	chr5:107338415-107338416	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs563738662	chr5:107338511-107338512	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs529288544	chr5:107338540-107338541	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs141051454	chr5:107338562-107338563	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs559428736	chr5:107338583-107338584	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs528259379	chr5:107338612-107338613	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs551205565	chr5:107338627-107338628	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs558160805	chr5:107338657-107338658	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs571185982	chr5:107338719-107338720	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs537385748	chr5:107338781-107338782	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs114453323	chr5:107338831-107338832	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs567227339	chr5:107338841-107338842	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs535874500	chr5:107338842-107338843	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs377093713	chr5:107338919-107338920	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs552993697	chr5:107338920-107338921	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs115093269	chr5:107338940-107338941	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs370186069	chr5:107338981-107338982	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs570113255	chr5:107338985-107338986	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs11956232	chr5:107339001-107339002	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs145125102	chr5:107339042-107339043	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs562755347	chr5:107339050-107339051	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs79736698	chr5:107339051-107339052	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs553043200	chr5:107339070-107339071	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs185215151	chr5:107339091-107339092	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs190539678	chr5:107339117-107339118	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs138954312	chr5:107339134-107339135	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs113317140	chr5:107339224-107339225	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542693816	chr5:107339259-107339260	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559414849	chr5:107339301-107339302	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107319800-107354000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:107321200-107338800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:107327400-107353400	Weak transcription	Aorta	Aorta
4	chr5:107333800-107338400	Weak transcription	NHDF-Ad	bronchial
5	chr5:107333800-107338800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:107333800-107338800	Weak transcription	Fetal Brain Male	brain
7	chr5:107334200-107338600	Weak transcription	HUVEC	blood vessel
8	chr5:107336800-107338600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:107338200-107338400	Enhancers	Dnd41	blood
10	chr5:107338400-107338800	Enhancers	GM12878-XiMat	blood
11	chr5:107338400-107338800	Enhancers	NHDF-Ad	bronchial
12	chr5:107338400-107339000	Active TSS	Osteobl	bone
13	chr5:107338400-107339400	Flanking Active TSS	Dnd41	blood
14	chr5:107338400-107339600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:107338600-107338800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:107338600-107338800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:107338600-107338800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:107338600-107338800	Enhancers	Liver	Liver
19	chr5:107338600-107338800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr5:107338600-107338800	Active TSS	Hela-S3	cervix
21	chr5:107338600-107338800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr5:107338600-107339200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:107338600-107339200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:107338600-107339200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr5:107338600-107339200	Flanking Active TSS	HUVEC	blood vessel
26	chr5:107338600-107339400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:107338600-107339800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr5:107338800-107339000	Enhancers	Primary T cells from cord blood	blood
29	chr5:107338800-107339000	Active TSS	Muscle Satellite Cultured Cells	--
30	chr5:107338800-107339000	Active TSS	Adipose Nuclei	Adipose
31	chr5:107338800-107339000	Flanking Active TSS	Liver	Liver
32	chr5:107338800-107339000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr5:107338800-107339000	ZNF genes & repeats	Fetal Brain Male	brain
34	chr5:107338800-107339200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:107338800-107339200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr5:107338800-107339200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:107338800-107339200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr5:107338800-107339200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:107338800-107339200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:107338800-107339200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:107338800-107339200	Active TSS	Duodenum Mucosa	Duodenum
42	chr5:107338800-107339200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr5:107338800-107339200	Enhancers	Left Ventricle	heart
44	chr5:107338800-107339200	Active TSS	Ovary	ovary
45	chr5:107338800-107339200	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr5:107338800-107339200	Active TSS	Right Atrium	heart
47	chr5:107338800-107339200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr5:107338800-107339200	Enhancers	Small Intestine	intestine
49	chr5:107338800-107339200	Flanking Active TSS	Hela-S3	cervix
50	chr5:107338800-107339200	Active TSS	HSMMtube	muscle

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