Variant report

Variant	nsv1034438
Chromosome Location	chr5:115612225-115630878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:115614176-115614178	K562	blood:	n/a	n/a
2	CBX3	chr5:115612735-115612979	K562	blood:	n/a	n/a
3	CBX3	chr5:115612653-115612965	K562	blood:	n/a	n/a
4	CBX3	chr5:115612612-115613059	HCT-116	colon:	n/a	n/a
5	CEBPB	chr5:115612611-115612811	A549	lung:	n/a	n/a
6	CEBPB	chr5:115615956-115616164	HepG2	liver:	n/a	n/a
7	CTCF	chr5:115625106-115625257	MCF-7	breast:	n/a	chr5:115625169-115625182
8	CTCF	chr5:115625080-115625230	MCF-7	breast:	n/a	chr5:115625169-115625182
9	CTCF	chr5:115624880-115625030	A549	lung:	n/a	n/a
10	CTCF	chr5:115625040-115625190	BJ	skin:	n/a	chr5:115625169-115625182
11	CTCF	chr5:115625085-115625247	HepG2	liver:	n/a	chr5:115625169-115625182
12	CTCF	chr5:115625080-115625230	Hela-S3	cervix:	n/a	chr5:115625169-115625182
13	CTCF	chr5:115624980-115625130	WI-38	lung:	n/a	n/a
14	CTCF	chr5:115625060-115625210	HFF-Myc	foreskin:	n/a	chr5:115625169-115625182
15	CTCF	chr5:115625060-115625210	HBMEC	blood vessel:	n/a	chr5:115625169-115625182
16	CTCF	chr5:115625140-115625290	HRPEpiC	eye:	n/a	chr5:115625169-115625182
17	CTCF	chr5:115625000-115625150	GM12871	blood:	n/a	n/a
18	CTCF	chr5:115624980-115625130	NHEK	skin:	n/a	n/a
19	CTCF	chr5:115625100-115625250	HMEC	breast:	n/a	chr5:115625169-115625182
20	CTCF	chr5:115625040-115625190	HCPEpiC	choroid plexus:	n/a	chr5:115625169-115625182
21	CTCF	chr5:115625127-115625215	GM12878	blood:	n/a	chr5:115625169-115625182
22	CTCF	chr5:115625120-115625270	MCF-7	breast:	n/a	chr5:115625169-115625182
23	CTCF	chr5:115625175-115625221	GM19238	blood:	n/a	n/a
24	CTCF	chr5:115624962-115625365	H1-hESC	embryonic stem cell:	n/a	chr5:115625169-115625182
25	CTCF	chr5:115625040-115625190	HPF	lung:	n/a	chr5:115625169-115625182
26	CTCF	chr5:115625100-115625250	HCT-116	colon:	n/a	chr5:115625169-115625182
27	CTCF	chr5:115614780-115614930	BJ	skin:	n/a	n/a
28	CTCF	chr5:115625100-115625250	BE2_C	brain:	n/a	chr5:115625169-115625182
29	CTCF	chr5:115625180-115625330	HFF-Myc	foreskin:	n/a	n/a
30	CTCF	chr5:115625100-115625250	GM12868	blood:	n/a	chr5:115625169-115625182
31	CTCF	chr5:115625000-115625150	GM12872	blood:	n/a	n/a
32	CTCF	chr5:115625111-115625236	Hela-S3	cervix:	n/a	chr5:115625169-115625182
33	CTCF	chr5:115625120-115625270	GM12864	blood:	n/a	chr5:115625169-115625182
34	CTCF	chr5:115625100-115625250	A549	lung:	n/a	chr5:115625169-115625182
35	CTCF	chr5:115625140-115625290	HRE	kidney:	n/a	chr5:115625169-115625182
36	CTCF	chr5:115625120-115625270	AG04450	lung:	n/a	chr5:115625169-115625182
37	CTCF	chr5:115625080-115625230	HPAF	blood vessel:	n/a	chr5:115625169-115625182
38	CTCF	chr5:115625020-115625170	HRE	kidney:	n/a	n/a
39	CTCF	chr5:115625120-115625270	HCPEpiC	choroid plexus:	n/a	chr5:115625169-115625182
40	CTCF	chr5:115625060-115625210	HepG2	liver:	n/a	chr5:115625169-115625182
41	CTCF	chr5:115625040-115625190	HMF	breast:	n/a	chr5:115625169-115625182
42	CTCF	chr5:115625080-115625230	GM12872	blood:	n/a	chr5:115625169-115625182
43	CTCF	chr5:115625119-115625254	Gliobla	brain:	n/a	chr5:115625169-115625182
44	CTCF	chr5:115625121-115625237	K562	blood:	n/a	chr5:115625169-115625182
45	CTCF	chr5:115625129-115625224	HUVEC	blood vessel:	n/a	chr5:115625169-115625182
46	CTCF	chr5:115625040-115625190	AG09319	gingival:	n/a	chr5:115625169-115625182
47	CTCF	chr5:115625100-115625250	HEEpiC	esophagus:	n/a	chr5:115625169-115625182
48	CTCF	chr5:115625060-115625210	GM12874	blood:	n/a	chr5:115625169-115625182
49	CTCF	chr5:115625100-115625250	HCFaa	heart:	n/a	chr5:115625169-115625182
50	CTCF	chr5:115625240-115625390	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:115473058..115473763-chr5:115624723..115625238,2	MCF-7	breast:
2	chr5:115607181..115609929-chr5:115613382..115615949,2	K562	blood:
3	chr20:47537809..47538621-chr5:115628215..115629028,2	MCF-7	breast:
4	chr5:115611187..115613784-chr5:115614610..115617269,2	MCF-7	breast:
5	chr5:115611187..115613784-chr5:115614610..115617269,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LVRN.1-4	chr5:115628154-115628257	NONHSAT103358

Variant related genes	Relation type
COMMD10	TF binding region
ENSG00000124198	chromatin interactions

Extended variants
information (count: 928 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:928 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533108549	chr5:115612228-115612229	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532896424	chr5:115612232-115612233	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546667563	chr5:115612233-115612234	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566392859	chr5:115612271-115612272	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187464027	chr5:115612283-115612284	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191484050	chr5:115612290-115612291	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182859686	chr5:115612300-115612301	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569340566	chr5:115612304-115612305	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537699790	chr5:115612349-115612350	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557676311	chr5:115612368-115612369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1677406	chr5:115612389-115612390	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs534078246	chr5:115612399-115612400	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72808909	chr5:115612412-115612413	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114854936	chr5:115612421-115612422	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4362979	chr5:115612422-115612423	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs556571535	chr5:115612480-115612481	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576814326	chr5:115612492-115612493	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187086640	chr5:115612534-115612535	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72808911	chr5:115612549-115612550	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139749587	chr5:115612551-115612552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192290984	chr5:115612559-115612560	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149806663	chr5:115612567-115612568	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560177980	chr5:115612590-115612591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368128513	chr5:115612649-115612650	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145702643	chr5:115612654-115612655	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548571636	chr5:115612692-115612693	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72808912	chr5:115612694-115612695	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531539179	chr5:115612734-115612735	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551648652	chr5:115612764-115612765	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148938886	chr5:115612772-115612773	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143815613	chr5:115612782-115612783	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533971948	chr5:115612811-115612812	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572650105	chr5:115612815-115612816	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542875841	chr5:115612835-115612836	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561501193	chr5:115612846-115612847	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184492993	chr5:115612901-115612902	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375214507	chr5:115612902-115612903	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536700769	chr5:115612922-115612923	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75480460	chr5:115612926-115612927	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147732697	chr5:115613020-115613021	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142646386	chr5:115613028-115613029	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545426336	chr5:115613030-115613031	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188077220	chr5:115613041-115613042	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549779755	chr5:115613047-115613048	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146694471	chr5:115613050-115613051	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193007296	chr5:115613086-115613087	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371622608	chr5:115613147-115613148	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17414107	chr5:115613148-115613149	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370913782	chr5:115613151-115613152	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528964829	chr5:115613178-115613179	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115599200-115612600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:115604600-115613200	Weak transcription	Psoas Muscle	Psoas
3	chr5:115610800-115613600	ZNF genes & repeats	Primary T cells from cord blood	blood
4	chr5:115611000-115612400	Weak transcription	Fetal Kidney	kidney
5	chr5:115611000-115615000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:115611600-115612400	Weak transcription	Liver	Liver
7	chr5:115612000-115614200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:115612400-115613400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr5:115612400-115613600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:115612400-115613600	ZNF genes & repeats	Liver	Liver
11	chr5:115612600-115613400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:115612600-115613600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
13	chr5:115612600-115613600	ZNF genes & repeats	Dnd41	blood
14	chr5:115612800-115613600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr5:115612800-115633200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:115612800-115633200	Weak transcription	Ovary	ovary
17	chr5:115613000-115613200	ZNF genes & repeats	Fetal Kidney	kidney
18	chr5:115613000-115613600	ZNF genes & repeats	Primary B cells from cord blood	blood
19	chr5:115613000-115613600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:115613200-115613400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
21	chr5:115613200-115613400	ZNF genes & repeats	HSMM	muscle
22	chr5:115613200-115613600	ZNF genes & repeats	Fetal Heart	heart
23	chr5:115613200-115613600	ZNF genes & repeats	Psoas Muscle	Psoas
24	chr5:115613400-115616800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:115613400-115628200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:115613400-115641600	Weak transcription	HSMM	muscle
27	chr5:115613600-115615200	Weak transcription	Psoas Muscle	Psoas
28	chr5:115613600-115615400	Weak transcription	Liver	Liver
29	chr5:115613600-115616000	Weak transcription	Dnd41	blood
30	chr5:115613600-115619400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:115613600-115621400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:115613600-115623200	Weak transcription	Primary B cells from cord blood	blood
33	chr5:115613600-115623200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:115613600-115632000	Weak transcription	Fetal Heart	heart
35	chr5:115613600-115633000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:115614200-115615400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:115614800-115615000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr5:115615000-115616000	Strong transcription	Primary hematopoietic stem cells	blood
39	chr5:115615000-115616800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:115615400-115615800	Enhancers	Liver	Liver
41	chr5:115615400-115616200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:115615600-115616200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:115615800-115616000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr5:115615800-115616400	Flanking Active TSS	Liver	Liver
45	chr5:115616000-115616600	Enhancers	Dnd41	blood
46	chr5:115616000-115621200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:115616200-115616400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:115616200-115616800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:115616200-115617600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:115616400-115617000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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