Variant report

Variant	nsv1029334
Chromosome Location	chr5:115605092-115625245
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	chr5:115609206-115609493	GM12878	blood:	n/a	chr5:115609356-115609366 chr5:115609352-115609362 chr5:115609355-115609366
3	BATF	chr5:115609200-115609492	GM12878	blood:	n/a	chr5:115609356-115609366 chr5:115609352-115609362 chr5:115609355-115609366
4	CBX3	chr5:115612612-115613059	HCT-116	colon:	n/a	n/a
5	CBX3	chr5:115612653-115612965	K562	blood:	n/a	n/a
6	CBX3	chr5:115612735-115612979	K562	blood:	n/a	n/a
7	CEBPB	chr5:115608227-115608718	MCF-7	breast:	n/a	chr5:115608483-115608494
8	CEBPB	chr5:115608381-115608622	HepG2	liver:	n/a	chr5:115608483-115608494
9	CEBPB	chr5:115608269-115608767	MCF-7	breast:	n/a	chr5:115608483-115608494
10	CEBPB	chr5:115612611-115612811	A549	lung:	n/a	n/a
11	CEBPB	chr5:115608357-115608659	A549	lung:	n/a	chr5:115608483-115608494
12	CEBPB	chr5:115608311-115608872	IMR90	lung:	n/a	chr5:115608483-115608494
13	CEBPB	chr5:115615956-115616164	HepG2	liver:	n/a	n/a
14	CHD2	chr5:115608466-115608624	GM12878	blood:	n/a	n/a
15	CHD2	chr5:115609186-115609453	GM12878	blood:	n/a	n/a
16	CTCF	chr5:115625140-115625290	WI-38	lung:	n/a	chr5:115625169-115625182
17	CTCF	chr5:115608225-115608628	MCF-7	breast:	n/a	n/a
18	CTCF	chr5:115608300-115608450	GM12874	blood:	n/a	n/a
19	CTCF	chr5:115625060-115625210	HBMEC	blood vessel:	n/a	chr5:115625169-115625182
20	CTCF	chr5:115608440-115608590	GM12869	blood:	n/a	n/a
21	CTCF	chr5:115625040-115625190	HMF	breast:	n/a	chr5:115625169-115625182
22	CTCF	chr5:115625072-115625269	MCF-7	breast:	n/a	chr5:115625169-115625182
23	CTCF	chr5:115608380-115608530	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr5:115625060-115625210	BE2_C	brain:	n/a	chr5:115625169-115625182
25	CTCF	chr5:115624925-115625272	H1-hESC	embryonic stem cell:	n/a	chr5:115625169-115625182
26	CTCF	chr5:115625040-115625190	HepG2	liver:	n/a	chr5:115625169-115625182
27	CTCF	chr5:115625060-115625210	HepG2	liver:	n/a	chr5:115625169-115625182
28	CTCF	chr5:115625120-115625270	GM12864	blood:	n/a	chr5:115625169-115625182
29	CTCF	chr5:115625100-115625250	HCT-116	colon:	n/a	chr5:115625169-115625182
30	CTCF	chr5:115625119-115625254	Gliobla	brain:	n/a	chr5:115625169-115625182
31	CTCF	chr5:115608380-115608530	AoAF	blood vessel:	n/a	n/a
32	CTCF	chr5:115608400-115608550	AG09319	gingival:	n/a	n/a
33	CTCF	chr5:115625085-115625247	HepG2	liver:	n/a	chr5:115625169-115625182
34	CTCF	chr5:115625127-115625215	GM12878	blood:	n/a	chr5:115625169-115625182
35	CTCF	chr5:115608380-115608530	GM12868	blood:	n/a	n/a
36	CTCF	chr5:115625111-115625252	MCF-7	breast:	n/a	chr5:115625169-115625182
37	CTCF	chr5:115608380-115608530	HMF	breast:	n/a	n/a
38	CTCF	chr5:115608380-115608530	BE2_C	brain:	n/a	n/a
39	CTCF	chr5:115608440-115608590	RPTEC	kidney:	n/a	n/a
40	CTCF	chr5:115625040-115625190	GM12872	blood:	n/a	chr5:115625169-115625182
41	CTCF	chr5:115625040-115625190	AG04450	lung:	n/a	chr5:115625169-115625182
42	CTCF	chr5:115625160-115625310	HEK293	kidney:	n/a	chr5:115625169-115625182
43	CTCF	chr5:115624962-115625365	H1-hESC	embryonic stem cell:	n/a	chr5:115625169-115625182
44	CTCF	chr5:115625100-115625250	RPTEC	kidney:	n/a	chr5:115625169-115625182
45	CTCF	chr5:115625040-115625190	HPF	lung:	n/a	chr5:115625169-115625182
46	CTCF	chr5:115622300-115622450	AG09319	gingival:	n/a	n/a
47	CTCF	chr5:115608300-115608651	GM12878	blood:	n/a	n/a
48	CTCF	chr5:115625120-115625270	MCF-7	breast:	n/a	chr5:115625169-115625182
49	CTCF	chr5:115625106-115625257	MCF-7	breast:	n/a	chr5:115625169-115625182
50	CTCF	chr5:115608380-115608530	AG04449	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:115573428..115574084-chr5:115607901..115608709,2	MCF-7	breast:
2	chr5:115607181..115609929-chr5:115613382..115615949,2	K562	blood:
3	chr5:115473639..115474170-chr5:115607611..115608509,2	MCF-7	breast:
4	chr5:115611187..115613784-chr5:115614610..115617269,2	MCF-7	breast:
5	chr5:115473058..115473763-chr5:115624723..115625238,2	MCF-7	breast:
6	chr5:115611187..115613784-chr5:115614610..115617269,2	MCF-7	breast:
7	chr5:115607181..115609929-chr5:115613382..115615949,2	K562	blood:

Variant related genes	Relation type
COMMD10	TF binding region

Extended variants
information (count: 1065 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1065 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs803967	chr5:115605119-115605120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73784107	chr5:115605120-115605121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551110790	chr5:115605127-115605128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183937974	chr5:115605140-115605141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188681523	chr5:115605157-115605158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs57148027	chr5:115605160-115605161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191416653	chr5:115605164-115605165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183591350	chr5:115605166-115605167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77094263	chr5:115605171-115605172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550009120	chr5:115605176-115605177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569790778	chr5:115605177-115605178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143045007	chr5:115605192-115605193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs712565	chr5:115605198-115605199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs115338707	chr5:115605219-115605220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs57894479	chr5:115605222-115605223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs72808904	chr5:115605223-115605224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs144412680	chr5:115605224-115605225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116381892	chr5:115605263-115605264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370924495	chr5:115605292-115605293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34272963	chr5:115605326-115605327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148350503	chr5:115605336-115605337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577054142	chr5:115605340-115605341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545969852	chr5:115605349-115605350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559484267	chr5:115605356-115605357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527403613	chr5:115605399-115605400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141497429	chr5:115605404-115605405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560730218	chr5:115605405-115605406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75092927	chr5:115605419-115605420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150881089	chr5:115605451-115605452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549852549	chr5:115605459-115605460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535747838	chr5:115605497-115605498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573626572	chr5:115605507-115605508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528633221	chr5:115605514-115605515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569917912	chr5:115605534-115605535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188720512	chr5:115605537-115605538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552424002	chr5:115605548-115605549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77181872	chr5:115605583-115605584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191478720	chr5:115605706-115605707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555041309	chr5:115605713-115605714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568410380	chr5:115605730-115605731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367629350	chr5:115605732-115605733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557400969	chr5:115605733-115605734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78412305	chr5:115605744-115605745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397766285	chr5:115605751-115605752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577134043	chr5:115605752-115605753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185200964	chr5:115605771-115605772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553151736	chr5:115605784-115605785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190097412	chr5:115605798-115605799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540809133	chr5:115605801-115605802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561034785	chr5:115605822-115605823	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:143 , 50 per page) page: 1 2 3

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	chr5:115586800-115608000	Weak transcription	Adipose Nuclei	Adipose
4	chr5:115586800-115609800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:115586800-115610800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:115590800-115610200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:115591000-115607200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:115592000-115607800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:115597000-115608200	Weak transcription	NHDF-Ad	bronchial
10	chr5:115599200-115612600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:115600600-115611400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:115601000-115606200	Weak transcription	Primary T cells from cord blood	blood
13	chr5:115601600-115608000	Weak transcription	Fetal Lung	lung
14	chr5:115604600-115613200	Weak transcription	Psoas Muscle	Psoas
15	chr5:115606200-115606400	ZNF genes & repeats	Primary T cells from cord blood	blood
16	chr5:115606400-115608000	Weak transcription	Primary T cells from cord blood	blood
17	chr5:115607200-115607400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
18	chr5:115607200-115607800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:115607200-115608200	Enhancers	Liver	Liver
20	chr5:115607400-115607800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:115607600-115608200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:115608000-115608200	ZNF genes & repeats	Primary T cells from cord blood	blood
23	chr5:115608000-115608800	Enhancers	Adipose Nuclei	Adipose
24	chr5:115608000-115609200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:115608200-115608400	Enhancers	NHDF-Ad	bronchial
26	chr5:115608200-115608600	Enhancers	HSMMtube	muscle
27	chr5:115608200-115608800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:115608200-115608800	Flanking Active TSS	Liver	Liver
29	chr5:115608200-115609000	Enhancers	Fetal Kidney	kidney
30	chr5:115608200-115609600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr5:115608200-115609800	Enhancers	NHLF	lung
32	chr5:115608400-115608800	Weak transcription	NHDF-Ad	bronchial
33	chr5:115608600-115608800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:115608800-115609000	Enhancers	Stomach Smooth Muscle	stomach
35	chr5:115608800-115609200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:115608800-115609200	Enhancers	NHDF-Ad	bronchial
37	chr5:115608800-115611600	Enhancers	Liver	Liver
38	chr5:115609000-115609400	Weak transcription	Fetal Kidney	kidney
39	chr5:115609000-115610000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr5:115609200-115610000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:115609200-115610200	Enhancers	Rectal Smooth Muscle	rectum
42	chr5:115609200-115612000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:115609400-115610000	Enhancers	Fetal Kidney	kidney
44	chr5:115609600-115610200	Enhancers	Colon Smooth Muscle	Colon
45	chr5:115609800-115610200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr5:115610000-115610200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:115610000-115610400	Enhancers	Stomach Smooth Muscle	stomach
48	chr5:115610000-115610800	Weak transcription	Fetal Kidney	kidney
49	chr5:115610200-115611400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
50	chr5:115610600-115611000	ZNF genes & repeats	Primary B cells from cord blood	blood

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