Variant report

Variant	nsv1028664
Chromosome Location	chr5:115601522-115630878
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	BATF	chr5:115609200-115609492	GM12878	blood:	n/a	chr5:115609356-115609366 chr5:115609352-115609362 chr5:115609355-115609366
3	BATF	chr5:115609206-115609493	GM12878	blood:	n/a	chr5:115609356-115609366 chr5:115609352-115609362 chr5:115609355-115609366
4	CBX3	chr5:115612735-115612979	K562	blood:	n/a	n/a
5	CBX3	chr5:115612653-115612965	K562	blood:	n/a	n/a
6	CBX3	chr5:115612612-115613059	HCT-116	colon:	n/a	n/a
7	CEBPB	chr5:115608381-115608622	HepG2	liver:	n/a	chr5:115608483-115608494
8	CEBPB	chr5:115608357-115608659	A549	lung:	n/a	chr5:115608483-115608494
9	CEBPB	chr5:115612611-115612811	A549	lung:	n/a	n/a
10	CEBPB	chr5:115615956-115616164	HepG2	liver:	n/a	n/a
11	CEBPB	chr5:115608269-115608767	MCF-7	breast:	n/a	chr5:115608483-115608494
12	CEBPB	chr5:115608227-115608718	MCF-7	breast:	n/a	chr5:115608483-115608494
13	CEBPB	chr5:115608311-115608872	IMR90	lung:	n/a	chr5:115608483-115608494
14	CHD2	chr5:115608466-115608624	GM12878	blood:	n/a	n/a
15	CHD2	chr5:115609186-115609453	GM12878	blood:	n/a	n/a
16	CTCF	chr5:115614780-115614930	BJ	skin:	n/a	n/a
17	CTCF	chr5:115608434-115608519	HepG2	liver:	n/a	n/a
18	CTCF	chr5:115608380-115608530	AG09309	skin:	n/a	n/a
19	CTCF	chr5:115625111-115625252	MCF-7	breast:	n/a	chr5:115625169-115625182
20	CTCF	chr5:115625140-115625290	RPTEC	kidney:	n/a	chr5:115625169-115625182
21	CTCF	chr5:115625060-115625210	HVMF	connective:	n/a	chr5:115625169-115625182
22	CTCF	chr5:115624925-115625272	H1-hESC	embryonic stem cell:	n/a	chr5:115625169-115625182
23	CTCF	chr5:115608380-115608530	GM12866	blood:	n/a	n/a
24	CTCF	chr5:115608372-115608591	MCF-7	breast:	n/a	n/a
25	CTCF	chr5:115625060-115625210	BE2_C	brain:	n/a	chr5:115625169-115625182
26	CTCF	chr5:115608400-115608550	NHLF	lung:	n/a	n/a
27	CTCF	chr5:115625040-115625190	AG04450	lung:	n/a	chr5:115625169-115625182
28	CTCF	chr5:115608420-115608570	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr5:115627143-115627204	GM10248	blood:	n/a	n/a
30	CTCF	chr5:115608340-115608490	BE2_C	brain:	n/a	n/a
31	CTCF	chr5:115625119-115625254	Gliobla	brain:	n/a	chr5:115625169-115625182
32	CTCF	chr5:115625040-115625190	HepG2	liver:	n/a	chr5:115625169-115625182
33	CTCF	chr5:115608400-115608550	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr5:115625020-115625170	GM12873	blood:	n/a	n/a
35	CTCF	chr5:115608360-115608510	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr5:115625085-115625247	HepG2	liver:	n/a	chr5:115625169-115625182
37	CTCF	chr5:115608440-115608590	A549	lung:	n/a	n/a
38	CTCF	chr5:115625111-115625236	Hela-S3	cervix:	n/a	chr5:115625169-115625182
39	CTCF	chr5:115625100-115625250	HCT-116	colon:	n/a	chr5:115625169-115625182
40	CTCF	chr5:115608420-115608517	LNCaP	prostate:	n/a	n/a
41	CTCF	chr5:115625120-115625270	MCF-7	breast:	n/a	chr5:115625169-115625182
42	CTCF	chr5:115608340-115608490	BJ	skin:	n/a	n/a
43	CTCF	chr5:115625060-115625210	AoAF	blood vessel:	n/a	chr5:115625169-115625182
44	CTCF	chr5:115625129-115625224	HUVEC	blood vessel:	n/a	chr5:115625169-115625182
45	CTCF	chr5:115625040-115625190	HUVEC	blood vessel:	n/a	chr5:115625169-115625182
46	CTCF	chr5:115625060-115625210	HFF-Myc	foreskin:	n/a	chr5:115625169-115625182
47	CTCF	chr5:115608400-115608550	GM06990	blood:	n/a	n/a
48	CTCF	chr5:115625100-115625250	RPTEC	kidney:	n/a	chr5:115625169-115625182
49	CTCF	chr5:115624980-115625130	WI-38	lung:	n/a	n/a
50	CTCF	chr5:115625080-115625230	HPAF	blood vessel:	n/a	chr5:115625169-115625182

No.	Distal block	Cell Line	Cell type
1	chr5:115607181..115609929-chr5:115613382..115615949,2	K562	blood:
2	chr20:47537809..47538621-chr5:115628215..115629028,2	MCF-7	breast:
3	chr5:115611187..115613784-chr5:115614610..115617269,2	MCF-7	breast:
4	chr5:115473058..115473763-chr5:115624723..115625238,2	MCF-7	breast:
5	chr5:115473639..115474170-chr5:115607611..115608509,2	MCF-7	breast:
6	chr5:115573428..115574084-chr5:115607901..115608709,2	MCF-7	breast:
7	chr5:115607181..115609929-chr5:115613382..115615949,2	K562	blood:
8	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: 1528 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1528 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145917378	chr5:115601528-115601529	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs114222578	chr5:115601529-115601530	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552555013	chr5:115601598-115601599	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs138603891	chr5:115601603-115601604	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs534849778	chr5:115601611-115601612	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs548421928	chr5:115601621-115601622	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs568232727	chr5:115601622-115601623	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs7706895	chr5:115601629-115601630	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75497360	chr5:115601646-115601647	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs570796841	chr5:115601682-115601683	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs539815103	chr5:115601725-115601726	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs76065051	chr5:115601726-115601727	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs573182195	chr5:115601742-115601743	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs149582187	chr5:115601773-115601774	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs569991467	chr5:115601790-115601791	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs2078075	chr5:115601791-115601792	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs143306914	chr5:115601792-115601793	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs192303825	chr5:115601816-115601817	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558475086	chr5:115601825-115601826	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532042359	chr5:115601849-115601850	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545801850	chr5:115601854-115601855	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76834306	chr5:115601866-115601867	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34367462	chr5:115601888-115601889	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1001013	chr5:115601919-115601920	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184501124	chr5:115601925-115601926	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116286357	chr5:115601936-115601937	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372969566	chr5:115601939-115601940	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74660138	chr5:115601953-115601954	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200251729	chr5:115601992-115601993	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550838706	chr5:115602054-115602055	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs188963334	chr5:115602056-115602057	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs539482713	chr5:115602087-115602088	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs552963850	chr5:115602106-115602107	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs7729439	chr5:115602144-115602145	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535756346	chr5:115602145-115602146	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs72806944	chr5:115602160-115602161	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs575795629	chr5:115602163-115602164	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs371366296	chr5:115602207-115602208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111862575	chr5:115602209-115602210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148296024	chr5:115602250-115602251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62385993	chr5:115602254-115602255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs576890130	chr5:115602304-115602305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7729362	chr5:115602311-115602312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs13159814	chr5:115602323-115602324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs193208737	chr5:115602345-115602346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76411354	chr5:115602377-115602378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562009642	chr5:115602384-115602385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530645912	chr5:115602390-115602391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs712564	chr5:115602415-115602416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs570519560	chr5:115602504-115602505	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:261 , 50 per page) page: 1 2 3 4 5 6

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	chr5:115584800-115603600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:115586600-115603000	Weak transcription	Dnd41	blood
5	chr5:115586800-115608000	Weak transcription	Adipose Nuclei	Adipose
6	chr5:115586800-115609800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:115586800-115610800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:115590800-115610200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:115591000-115607200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr5:115592000-115607800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:115595800-115603800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:115597000-115608200	Weak transcription	NHDF-Ad	bronchial
13	chr5:115597800-115603400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:115599200-115612600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:115599600-115602200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:115600600-115611400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:115600800-115601600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr5:115601000-115601800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:115601000-115606200	Weak transcription	Primary T cells from cord blood	blood
20	chr5:115601200-115601600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:115601400-115601600	ZNF genes & repeats	Fetal Lung	lung
22	chr5:115601400-115601800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr5:115601600-115604600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:115601600-115608000	Weak transcription	Fetal Lung	lung
25	chr5:115601800-115602000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:115602200-115603600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:115604600-115613200	Weak transcription	Psoas Muscle	Psoas
28	chr5:115606200-115606400	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr5:115606400-115608000	Weak transcription	Primary T cells from cord blood	blood
30	chr5:115607200-115607400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
31	chr5:115607200-115607800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr5:115607200-115608200	Enhancers	Liver	Liver
33	chr5:115607400-115607800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr5:115607600-115608200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:115608000-115608200	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr5:115608000-115608800	Enhancers	Adipose Nuclei	Adipose
37	chr5:115608000-115609200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:115608200-115608400	Enhancers	NHDF-Ad	bronchial
39	chr5:115608200-115608600	Enhancers	HSMMtube	muscle
40	chr5:115608200-115608800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:115608200-115608800	Flanking Active TSS	Liver	Liver
42	chr5:115608200-115609000	Enhancers	Fetal Kidney	kidney
43	chr5:115608200-115609600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr5:115608200-115609800	Enhancers	NHLF	lung
45	chr5:115608400-115608800	Weak transcription	NHDF-Ad	bronchial
46	chr5:115608600-115608800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:115608800-115609000	Enhancers	Stomach Smooth Muscle	stomach
48	chr5:115608800-115609200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:115608800-115609200	Enhancers	NHDF-Ad	bronchial
50	chr5:115608800-115611600	Enhancers	Liver	Liver

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