Variant report

Variant	nsv519321
Chromosome Location	chr5:115541563-115584159
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:157)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:157 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:115567073-115567351	HepG2	liver:	n/a	n/a
2	BACH1	chr5:115573174-115573254	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr5:115584135-115584482	HepG2	liver:	n/a	chr5:115584298-115584309 chr5:115584300-115584311
4	CEBPB	chr5:115584119-115584488	MCF-7	breast:	n/a	chr5:115584298-115584309 chr5:115584300-115584311
5	CTCF	chr5:115573680-115573830	NHDF-neo	bronchial:	n/a	n/a
6	CTCF	chr5:115573700-115573850	AoAF	blood vessel:	n/a	n/a
7	CTCF	chr5:115573760-115573910	HMEC	breast:	n/a	n/a
8	CTCF	chr5:115573720-115573870	HRE	kidney:	n/a	n/a
9	CTCF	chr5:115573771-115573851	GM12878	blood:	n/a	n/a
10	CTCF	chr5:115573680-115573830	HVMF	connective:	n/a	n/a
11	CTCF	chr5:115573740-115573890	GM12864	blood:	n/a	n/a
12	CTCF	chr5:115573740-115573890	HPF	lung:	n/a	n/a
13	CTCF	chr5:115573760-115573910	GM12873	blood:	n/a	n/a
14	CTCF	chr5:115573660-115573810	GM12868	blood:	n/a	n/a
15	CTCF	chr5:115573680-115573830	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr5:115573780-115573930	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr5:115573700-115573850	HEK293	kidney:	n/a	n/a
18	CTCF	chr5:115573700-115573850	GM12872	blood:	n/a	n/a
19	CTCF	chr5:115574160-115574310	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr5:115573780-115573930	GM12873	blood:	n/a	n/a
21	CTCF	chr5:115546959-115547004	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr5:115573752-115573865	K562	blood:	n/a	n/a
23	CTCF	chr5:115573740-115573890	GM12878	blood:	n/a	n/a
24	CTCF	chr5:115573695-115573940	IMR90	lung:	n/a	n/a
25	CTCF	chr5:115573740-115573890	GM12865	blood:	n/a	n/a
26	CTCF	chr5:115573820-115573970	HFF-Myc	foreskin:	n/a	n/a
27	CTCF	chr5:115573740-115573890	HAc	cerebellar:	n/a	n/a
28	CTCF	chr5:115573720-115573870	AoAF	blood vessel:	n/a	n/a
29	CTCF	chr5:115573760-115573910	RPTEC	kidney:	n/a	n/a
30	CTCF	chr5:115573740-115573890	HCT-116	colon:	n/a	n/a
31	CTCF	chr5:115573640-115573790	A549	lung:	n/a	n/a
32	CTCF	chr5:115573780-115573930	HepG2	liver:	n/a	n/a
33	CTCF	chr5:115573744-115573863	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr5:115573720-115573870	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr5:115573680-115573830	GM06990	blood:	n/a	n/a
36	CTCF	chr5:115573660-115573810	NHEK	skin:	n/a	n/a
37	CTCF	chr5:115573640-115573790	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr5:115573760-115573910	HRE	kidney:	n/a	n/a
39	CTCF	chr5:115573700-115573850	AG04449	skin:	n/a	n/a
40	CTCF	chr5:115545600-115545750	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr5:115573669-115573951	K562	blood:	n/a	n/a
42	CTCF	chr5:115573700-115573850	HMF	breast:	n/a	n/a
43	CTCF	chr5:115573660-115573810	AG04450	lung:	n/a	n/a
44	CTCF	chr5:115573740-115573890	NHLF	lung:	n/a	n/a
45	CTCF	chr5:115563372-115563423	GM13976	blood:	n/a	n/a
46	CTCF	chr5:115573860-115574010	HCM	heart:	n/a	n/a
47	CTCF	chr5:115573720-115573950	WI-38	lung:	n/a	n/a
48	CTCF	chr5:115573720-115573870	BE2_C	brain:	n/a	n/a
49	CTCF	chr5:115573680-115573830	GM12871	blood:	n/a	n/a
50	CTCF	chr5:115573720-115573870	AG09319	gingival:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115573428..115574084-chr5:115607901..115608709,2	MCF-7	breast:
2	chr5:115523919..115526832-chr5:115553749..115555427,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEMA6A-7	chr5:115553723-115553992	NONHSAT103356
2	lnc-LVRN.1-3	chr5:115549572-115550152	NONHSAT103355

No data

Variant related genes	Relation type
HMGN2P27	TF binding region
ENSG00000212457	chromatin interactions

Extended variants
information (count: 2183 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:2183 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6896019	chr5:115541563-115541564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113721995	chr5:115541575-115541576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532220873	chr5:115541587-115541588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540819622	chr5:115541594-115541595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113090712	chr5:115541610-115541611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140162183	chr5:115541631-115541632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75445181	chr5:115541650-115541651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs58170916	chr5:115541665-115541666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397974687	chr5:115541666-115541667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551176327	chr5:115541704-115541705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183978423	chr5:115541712-115541713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527639674	chr5:115541724-115541725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78138440	chr5:115541757-115541758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78630105	chr5:115541758-115541759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75041206	chr5:115541759-115541760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76383480	chr5:115541760-115541761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187250237	chr5:115541786-115541787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567567949	chr5:115541797-115541798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1363481	chr5:115541820-115541821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs536476233	chr5:115541850-115541851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143920628	chr5:115541912-115541913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569850396	chr5:115541914-115541915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201321296	chr5:115541916-115541917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550521114	chr5:115541920-115541921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111233712	chr5:115541936-115541937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539163816	chr5:115541940-115541941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1363482	chr5:115541950-115541951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs191884359	chr5:115541958-115541959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541031722	chr5:115541971-115541972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182471447	chr5:115541976-115541977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7701536	chr5:115541981-115541982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11241378	chr5:115542005-115542006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs543689358	chr5:115542006-115542007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186745285	chr5:115542069-115542070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532562881	chr5:115542076-115542077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146839464	chr5:115542083-115542084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140679510	chr5:115542102-115542103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554413970	chr5:115542110-115542111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527298336	chr5:115542115-115542116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142555146	chr5:115542119-115542120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567251408	chr5:115542164-115542165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530051958	chr5:115542190-115542191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113993594	chr5:115542221-115542222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373629881	chr5:115542232-115542233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569913364	chr5:115542260-115542261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566237589	chr5:115542273-115542274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538409535	chr5:115542290-115542291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201605613	chr5:115542300-115542301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559024770	chr5:115542301-115542302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376052455	chr5:115542320-115542321	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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115518800-115548000	Weak transcription	Psoas Muscle	Psoas
2	chr5:115525800-115560000	Weak transcription	Left Ventricle	heart
3	chr5:115527800-115543800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:115537200-115559400	Weak transcription	Primary B cells from cord blood	blood
5	chr5:115537400-115545000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr5:115537400-115560000	Weak transcription	Primary T cells from cord blood	blood
7	chr5:115537600-115542400	Weak transcription	Fetal Intestine Large	intestine
8	chr5:115537600-115560200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:115542600-115562800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:115543200-115543800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr5:115543800-115545800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:115544000-115544400	Enhancers	Ovary	ovary
13	chr5:115545800-115549600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:115547400-115548000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:115547400-115548200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:115548000-115548200	Enhancers	Psoas Muscle	Psoas
17	chr5:115549600-115550400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:115549800-115560000	Weak transcription	Fetal Intestine Small	intestine
19	chr5:115550400-115556400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:115551800-115576400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:115553400-115560200	Weak transcription	Fetal Stomach	stomach
22	chr5:115555000-115555800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:115555000-115557200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:115555800-115556400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:115556400-115556600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:115556800-115557000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:115557000-115562800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:115557200-115557400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr5:115557400-115560200	Weak transcription	Pancreas	Pancrea
30	chr5:115557400-115580800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr5:115557400-115583200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:115557600-115561000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr5:115559200-115564000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr5:115559200-115578400	Weak transcription	Fetal Lung	lung
35	chr5:115559400-115560000	ZNF genes & repeats	Primary B cells from cord blood	blood
36	chr5:115559800-115560000	Active TSS	Liver	Liver
37	chr5:115559800-115561400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:115560000-115560200	Strong transcription	Left Ventricle	heart
39	chr5:115560000-115560400	Strong transcription	Primary B cells from cord blood	blood
40	chr5:115560000-115560400	ZNF genes & repeats	Primary T cells from cord blood	blood
41	chr5:115560000-115560400	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr5:115560000-115560600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
43	chr5:115560000-115561800	Weak transcription	Liver	Liver
44	chr5:115560000-115563400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr5:115560000-115563600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:115560200-115560400	ZNF genes & repeats	Fetal Stomach	stomach
47	chr5:115560200-115560400	ZNF genes & repeats	Left Ventricle	heart
48	chr5:115560200-115560400	ZNF genes & repeats	Pancreas	Pancrea
49	chr5:115560200-115560600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr5:115560400-115563200	Weak transcription	Primary B cells from cord blood	blood

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