Variant report

Variant	nsv1029462
Chromosome Location	chr5:107645821-107680335
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:107637065..107639701-chr5:107665572..107668280,2	K562	blood:
2	chr5:107674221..107676262-chr5:107681301..107685297,3	K562	blood:
3	chr5:107652768..107655007-chr5:107665345..107667956,2	K562	blood:
4	chr5:107662350..107665061-chr5:107666147..107667939,2	MCF-7	breast:
5	chr5:107673625..107675150-chr5:107717919..107720038,2	K562	blood:
6	chr5:107652768..107655007-chr5:107665345..107667956,2	K562	blood:
7	chr5:107662350..107665061-chr5:107666147..107667939,2	MCF-7	breast:
8	chr5:107678990..107681640-chr5:107716469..107719656,3	MCF-7	breast:
9	chr5:107596357..107597019-chr5:107678266..107678805,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145743	chromatin interactions

Extended variants
information (count: 1236 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1236 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534307940	chr5:107645854-107645855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557477903	chr5:107645865-107645866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140432808	chr5:107645896-107645897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114906965	chr5:107645898-107645899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563064431	chr5:107645909-107645910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576688026	chr5:107645910-107645911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73781319	chr5:107645918-107645919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532978925	chr5:107645934-107645935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527731533	chr5:107646020-107646021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541387605	chr5:107646044-107646045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564580104	chr5:107646077-107646078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533429595	chr5:107646083-107646084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73781320	chr5:107646105-107646106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs111815583	chr5:107646117-107646118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569859458	chr5:107646122-107646123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545140018	chr5:107646161-107646162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78040560	chr5:107646162-107646163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560195748	chr5:107646167-107646168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527544247	chr5:107646258-107646259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549299017	chr5:107646383-107646384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565834657	chr5:107646499-107646500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534321970	chr5:107646501-107646502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557291642	chr5:107646507-107646508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560530799	chr5:107646510-107646511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375230484	chr5:107646554-107646555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369490049	chr5:107646571-107646572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559505022	chr5:107646598-107646599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17452434	chr5:107646601-107646602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376129689	chr5:107646608-107646609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2966789	chr5:107646609-107646610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182973855	chr5:107646613-107646614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186522677	chr5:107646645-107646646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541450886	chr5:107646656-107646657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145884839	chr5:107646676-107646677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373666642	chr5:107646685-107646686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138734140	chr5:107646705-107646706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533341864	chr5:107646755-107646756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141751273	chr5:107646768-107646769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563620804	chr5:107646781-107646782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7726298	chr5:107646782-107646783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs376542742	chr5:107646813-107646814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192381369	chr5:107646866-107646867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7706175	chr5:107646867-107646868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs549896046	chr5:107646903-107646904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146242352	chr5:107646905-107646906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570941216	chr5:107646906-107646907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536636532	chr5:107646917-107646918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557061889	chr5:107646921-107646922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567201142	chr5:107646928-107646929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138003026	chr5:107646934-107646935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107615000-107705600	Weak transcription	Left Ventricle	heart
2	chr5:107615200-107660400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:107620600-107678600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:107630200-107662600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:107632400-107651600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:107633200-107661600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:107634200-107679400	Weak transcription	Fetal Intestine Large	intestine
8	chr5:107639800-107651400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:107639800-107697200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:107641600-107662200	Weak transcription	Primary T cells from cord blood	blood
11	chr5:107644600-107669600	Weak transcription	Primary B cells from cord blood	blood
12	chr5:107645000-107651600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:107646600-107652400	Weak transcription	Fetal Thymus	thymus
14	chr5:107646800-107647000	Enhancers	Psoas Muscle	Psoas
15	chr5:107647000-107648000	Weak transcription	Psoas Muscle	Psoas
16	chr5:107647200-107647600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr5:107647400-107647600	Enhancers	Brain Anterior Caudate	brain
18	chr5:107647400-107647800	Enhancers	Brain Cingulate Gyrus	brain
19	chr5:107647600-107648800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:107647800-107648000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:107647800-107648000	Enhancers	Colon Smooth Muscle	Colon
22	chr5:107648000-107648200	Enhancers	Psoas Muscle	Psoas
23	chr5:107648000-107648200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:107648000-107648600	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:107648000-107704800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:107648200-107648400	Enhancers	Fetal Heart	heart
27	chr5:107648200-107649000	Weak transcription	Psoas Muscle	Psoas
28	chr5:107648600-107649200	Enhancers	Colon Smooth Muscle	Colon
29	chr5:107649000-107649200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr5:107649000-107649200	Enhancers	Psoas Muscle	Psoas
31	chr5:107650600-107652000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr5:107651000-107662200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:107651400-107652000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:107651400-107652000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:107651400-107652200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:107651600-107652000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:107651600-107652000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:107651600-107652000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr5:107651600-107652000	Enhancers	Rectal Smooth Muscle	rectum
40	chr5:107651600-107652000	Enhancers	A549	lung
41	chr5:107651600-107652200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:107652000-107655800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:107652000-107658600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr5:107653800-107670200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr5:107654400-107655000	Active TSS	Fetal Brain Female	brain
46	chr5:107654400-107655400	Enhancers	Brain Anterior Caudate	brain
47	chr5:107654600-107709400	Weak transcription	Pancreas	Pancrea
48	chr5:107655400-107656000	Weak transcription	Brain Anterior Caudate	brain
49	chr5:107655800-107656000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:107655800-107656200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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