Variant report

Variant	nsv965515
Chromosome Location	chr5:115526545-115546176
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	CTCF	chr5:115527000-115527150	GM06990	blood:	n/a	n/a
2	CTCF	chr5:115526780-115526930	HepG2	liver:	n/a	n/a
3	CTCF	chr5:115545600-115545750	HCPEpiC	choroid plexus:	n/a	n/a
4	GATA3	chr5:115540807-115540886	SH-SY5Y	brain:	n/a	n/a
5	GATA3	chr5:115532851-115533266	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr5:115532827-115533270	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr5:115532809-115533271	MCF-7	breast:	n/a	n/a
8	GTF2F1	chr5:115527179-115527209	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUN	chr5:115541691-115541827	HepG2	liver:	n/a	chr5:115541725-115541738
10	KAP1	chr5:115544780-115545020	K562	blood:	n/a	n/a
11	MAFK	chr5:115546140-115546435	IMR90	lung:	n/a	chr5:115546288-115546299 chr5:115546284-115546300 chr5:115546287-115546301 chr5:115546289-115546300 chr5:115546288-115546299 chr5:115546289-115546300
12	MAFK	chr5:115546142-115546411	HepG2	liver:	n/a	chr5:115546288-115546299 chr5:115546284-115546300 chr5:115546287-115546301 chr5:115546289-115546300 chr5:115546288-115546299 chr5:115546289-115546300
13	POLR2A	chr5:115533530-115533551	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr5:115544329-115544356	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr5:115542870-115543154	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr5:115534330-115534480	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr5:115529090-115529122	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr5:115529315-115529431	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:115527331-115527464	H1-hESC	embryonic stem cell:	n/a	n/a

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

Variant related genes	Relation type
RNU6-644P	TF binding region
ENSG00000232916	chromatin interactions

Extended variants
information (count: 1061 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1061 , 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	rs115258204	chr5:115526604-115526605	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557631071	chr5:115526618-115526619	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564017691	chr5:115526678-115526679	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532992140	chr5:115526712-115526713	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs62384213	chr5:115526795-115526796	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs560027951	chr5:115526798-115526799	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs529120099	chr5:115526800-115526801	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs548790207	chr5:115526844-115526845	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs568741470	chr5:115526851-115526852	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs531387484	chr5:115526852-115526853	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs116228217	chr5:115526910-115526911	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs571644071	chr5:115526925-115526926	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs554064198	chr5:115526964-115526965	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534198340	chr5:115526983-115526984	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147252230	chr5:115526999-115527000	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370022906	chr5:115527004-115527005	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs2416435	chr5:115527005-115527006	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182103695	chr5:115527006-115527007	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs574124934	chr5:115527044-115527045	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs536916529	chr5:115527047-115527048	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs76065173	chr5:115527080-115527081	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs142119662	chr5:115527116-115527117	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs554753775	chr5:115527154-115527155	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557837762	chr5:115527184-115527185	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs577628089	chr5:115527199-115527200	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs576049048	chr5:115527204-115527205	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs543465775	chr5:115527244-115527245	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528838123	chr5:115527306-115527307	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553985555	chr5:115527376-115527377	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs542546810	chr5:115527380-115527381	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs186254878	chr5:115527399-115527400	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs531578569	chr5:115527414-115527415	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs35665220	chr5:115527434-115527435	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs369293120	chr5:115527438-115527439	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs576744360	chr5:115527440-115527441	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs551237342	chr5:115527455-115527456	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs571723960	chr5:115527456-115527457	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs115515090	chr5:115527457-115527458	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs190591798	chr5:115527479-115527480	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567689860	chr5:115527481-115527482	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372681673	chr5:115527485-115527486	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536639482	chr5:115527490-115527491	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72804877	chr5:115527491-115527492	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs570207891	chr5:115527500-115527501	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181470931	chr5:115527531-115527532	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558853069	chr5:115527540-115527541	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185321072	chr5:115527584-115527585	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190032942	chr5:115527597-115527598	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7443669	chr5:115527611-115527612	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs573340090	chr5:115527612-115527613	Enhancers Weak transcription ZNF genes & repeats Strong 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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115481400-115536000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr5:115489200-115526800	Weak transcription	Pancreas	Pancrea
3	chr5:115489800-115528600	Weak transcription	Ovary	ovary
4	chr5:115497400-115528800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:115499200-115527400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr5:115508800-115529200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:115509200-115528400	Weak transcription	A549	lung
8	chr5:115509600-115533400	Weak transcription	HSMM	muscle
9	chr5:115510400-115526800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:115511800-115533200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:115512000-115529200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:115512200-115526800	Weak transcription	Fetal Intestine Small	intestine
13	chr5:115517400-115526800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:115518200-115529000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:115518800-115529400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr5:115518800-115529800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:115518800-115548000	Weak transcription	Psoas Muscle	Psoas
18	chr5:115520400-115528800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:115520800-115527000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:115521000-115526800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:115521000-115529400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:115521200-115530000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr5:115521400-115528800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:115521600-115527600	Strong transcription	Primary T cells from cord blood	blood
25	chr5:115522200-115536000	Weak transcription	Primary B cells from cord blood	blood
26	chr5:115522400-115528000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr5:115522400-115538000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:115522600-115526600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:115522600-115526800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr5:115522600-115536800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr5:115522600-115540200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr5:115523000-115527600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:115523000-115530400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:115523400-115526600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:115523400-115528400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr5:115524400-115536800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:115524600-115526600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:115524800-115527600	Weak transcription	Thymus	Thymus
39	chr5:115525000-115526600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:115525000-115526600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr5:115525200-115526800	Weak transcription	Adipose Nuclei	Adipose
42	chr5:115525200-115527200	Weak transcription	Fetal Stomach	stomach
43	chr5:115525200-115527800	Weak transcription	Fetal Lung	lung
44	chr5:115525200-115528400	Weak transcription	Fetal Intestine Large	intestine
45	chr5:115525200-115528600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr5:115525200-115529000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:115525200-115529000	Weak transcription	Aorta	Aorta
48	chr5:115525200-115529200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:115525800-115527800	Weak transcription	Fetal Muscle Leg	muscle
50	chr5:115525800-115560000	Weak transcription	Left Ventricle	heart

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