Variant report

Variant	nsv10746
Chromosome Location	chr5:115609918-115617019
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:115607181..115609929-chr5:115613382..115615949,2	K562	blood:
2	chr5:115611187..115613784-chr5:115614610..115617269,2	MCF-7	breast:
3	chr5:115607181..115609929-chr5:115613382..115615949,2	K562	blood:
4	chr5:115611187..115613784-chr5:115614610..115617269,2	MCF-7	breast:

Extended variants
information (count: 369 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199542855	chr5:115609933-115609934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12152964	chr5:115609965-115609966	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs534781960	chr5:115609980-115609981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73261035	chr5:115609991-115609992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4244403	chr5:115610020-115610021	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs141303573	chr5:115610037-115610038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182543343	chr5:115610040-115610041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143220946	chr5:115610161-115610162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539625879	chr5:115610162-115610163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553254671	chr5:115610180-115610181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572127096	chr5:115610222-115610223	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540721258	chr5:115610232-115610233	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537232264	chr5:115610265-115610266	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560947333	chr5:115610282-115610283	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574475086	chr5:115610291-115610292	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543768669	chr5:115610297-115610298	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564162552	chr5:115610305-115610306	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563559003	chr5:115610312-115610313	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532414148	chr5:115610325-115610326	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188463081	chr5:115610331-115610332	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192545206	chr5:115610333-115610334	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528597746	chr5:115610342-115610343	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534351104	chr5:115610349-115610350	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555572220	chr5:115610376-115610377	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548386278	chr5:115610477-115610478	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574031228	chr5:115610490-115610491	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538369852	chr5:115610523-115610524	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568166814	chr5:115610529-115610530	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537028410	chr5:115610538-115610539	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185322419	chr5:115610555-115610556	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187405271	chr5:115610560-115610561	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570827811	chr5:115610571-115610572	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539718160	chr5:115610573-115610574	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553535722	chr5:115610583-115610584	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573316969	chr5:115610603-115610604	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534756047	chr5:115610604-115610605	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371411085	chr5:115610651-115610652	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75311153	chr5:115610723-115610724	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543457129	chr5:115610732-115610733	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376186988	chr5:115610742-115610743	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563245579	chr5:115610752-115610753	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73261038	chr5:115610776-115610777	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs114869293	chr5:115610782-115610783	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151254403	chr5:115610831-115610832	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375770762	chr5:115610834-115610835	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572242547	chr5:115610867-115610868	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111405515	chr5:115610888-115610889	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367971990	chr5:115610900-115610901	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140593673	chr5:115610907-115610908	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369977924	chr5:115610918-115610919	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115560400-115610600	Weak transcription	Left Ventricle	heart
2	chr5:115579600-115610600	Weak transcription	Primary B cells from cord blood	blood
3	chr5:115586800-115610800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:115590800-115610200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:115599200-115612600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:115600600-115611400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:115604600-115613200	Weak transcription	Psoas Muscle	Psoas
8	chr5:115608800-115611600	Enhancers	Liver	Liver
9	chr5:115609000-115610000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:115609200-115610000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:115609200-115610200	Enhancers	Rectal Smooth Muscle	rectum
12	chr5:115609200-115612000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:115609400-115610000	Enhancers	Fetal Kidney	kidney
14	chr5:115609600-115610200	Enhancers	Colon Smooth Muscle	Colon
15	chr5:115609800-115610200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr5:115610000-115610200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:115610000-115610400	Enhancers	Stomach Smooth Muscle	stomach
18	chr5:115610000-115610800	Weak transcription	Fetal Kidney	kidney
19	chr5:115610200-115611400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
20	chr5:115610600-115611000	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr5:115610800-115611000	Enhancers	Fetal Kidney	kidney
22	chr5:115610800-115611800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
23	chr5:115610800-115613600	ZNF genes & repeats	Primary T cells from cord blood	blood
24	chr5:115611000-115612400	Weak transcription	Fetal Kidney	kidney
25	chr5:115611000-115615000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:115611400-115611800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:115611600-115612400	Weak transcription	Liver	Liver
28	chr5:115611800-115612200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:115612000-115614200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:115612400-115613400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
31	chr5:115612400-115613600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:115612400-115613600	ZNF genes & repeats	Liver	Liver
33	chr5:115612600-115613400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:115612600-115613600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
35	chr5:115612600-115613600	ZNF genes & repeats	Dnd41	blood
36	chr5:115612800-115613600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
37	chr5:115612800-115633200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:115612800-115633200	Weak transcription	Ovary	ovary
39	chr5:115613000-115613200	ZNF genes & repeats	Fetal Kidney	kidney
40	chr5:115613000-115613600	ZNF genes & repeats	Primary B cells from cord blood	blood
41	chr5:115613000-115613600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:115613200-115613400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
43	chr5:115613200-115613400	ZNF genes & repeats	HSMM	muscle
44	chr5:115613200-115613600	ZNF genes & repeats	Fetal Heart	heart
45	chr5:115613200-115613600	ZNF genes & repeats	Psoas Muscle	Psoas
46	chr5:115613400-115616800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:115613400-115628200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:115613400-115641600	Weak transcription	HSMM	muscle
49	chr5:115613600-115615200	Weak transcription	Psoas Muscle	Psoas
50	chr5:115613600-115615400	Weak transcription	Liver	Liver

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