Variant report

Variant	nsv584302
Chromosome Location	chr2:209208115-209221935
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	ARID3A	chr2:209210719-209210725	K562	blood:	n/a	n/a
2	BHLHE40	chr2:209216655-209216677	A549	lung:	n/a	n/a
3	CEBPB	chr2:209219785-209220071	A549	lung:	n/a	chr2:209219897-209219910
4	CEBPB	chr2:209213707-209213952	IMR90	lung:	n/a	n/a
5	CEBPB	chr2:209219230-209219440	HepG2	liver:	n/a	chr2:209219335-209219346
6	CEBPB	chr2:209212356-209212384	K562	blood:	n/a	n/a
7	CEBPB	chr2:209215660-209215728	A549	lung:	n/a	n/a
8	CEBPB	chr2:209219673-209220160	HepG2	liver:	n/a	chr2:209219897-209219910
9	CEBPB	chr2:209215280-209215912	IMR90	lung:	n/a	chr2:209215746-209215759
10	CTCF	chr2:209221920-209222070	A549	lung:	n/a	n/a
11	CTCF	chr2:209208615-209208689	Lung_OC	lung:	n/a	n/a
12	CTCF	chr2:209211580-209211730	NHLF	lung:	n/a	n/a
13	E2F4	chr2:209209395-209209707	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr2:209215835-209216035	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr2:209215304-209215590	MCF10A-Er-Src	breast:	n/a	chr2:209215453-209215461 chr2:209215453-209215461 chr2:209215454-209215461
16	HNF4G	chr2:209219639-209220036	HepG2	liver:	n/a	chr2:209219740-209219755 chr2:209219740-209219755 chr2:209219740-209219755 chr2:209219742-209219754 chr2:209219740-209219755
17	IRF1	chr2:209219445-209219447	K562	blood:	n/a	n/a
18	MAFK	chr2:209214768-209215048	HepG2	liver:	n/a	chr2:209214930-209214946 chr2:209214931-209214942 chr2:209214930-209214941
19	MAFK	chr2:209214767-209215022	IMR90	lung:	n/a	chr2:209214930-209214946 chr2:209214931-209214942 chr2:209214930-209214941
20	MAFK	chr2:209217123-209217161	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr2:209219653-209220037	NB4	blood:	n/a	n/a
22	MYC	chr2:209219637-209220110	NB4	blood:	n/a	n/a
23	POLR2A	chr2:209221480-209221933	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:209213688-209213828	A549	lung:	n/a	n/a
25	POLR2A	chr2:209221887-209222020	ProgFib	skin:	n/a	n/a
26	POLR2A	chr2:209219670-209219726	MCF-7	breast:	n/a	n/a
27	POLR2A	chr2:209219042-209219218	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr2:209221224-209221305	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr2:209214461-209214530	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr2:209213048-209213239	K562	blood:	n/a	n/a
31	POLR2A	chr2:209213469-209213665	K562	blood:	n/a	n/a
32	POLR2A	chr2:209221307-209221350	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr2:209218061-209218261	K562	blood:	n/a	n/a
34	POLR2A	chr2:209213753-209213855	MCF-7	breast:	n/a	n/a
35	SRF	chr2:209208728-209208841	GM12878	blood:	n/a	n/a
36	TCF7L2	chr2:209210742-209210976	HepG2	liver:	n/a	n/a
37	TCF7L2	chr2:209216867-209217286	HepG2	liver:	n/a	n/a
38	USF1	chr2:209208716-209208846	GM12878	blood:	n/a	n/a
39	USF2	chr2:209216318-209216520	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:209210530..209212074-chr2:209215409..209217883,2	K562	blood:
2	chr2:209209485..209212181-chr2:209212474..209214962,2	MCF-7	breast:
3	chr2:209209485..209212181-chr2:209212474..209214962,2	MCF-7	breast:
4	chr2:209210530..209214066-chr2:209215409..209218725,4	K562	blood:
5	chr19:46270760..46271644-chr2:209219267..209220010,2	NB4	blood:
6	chr2:209210530..209214066-chr2:209215409..209218725,4	K562	blood:
7	chr2:209220629..209223614-chr2:209226035..209228837,2	MCF-7	breast:
8	chr2:209210530..209212074-chr2:209215409..209217883,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PIKFYVE	hsa-miR-26a-5p	chr2:209221645-209221665

Variant related genes	Relation type
PTH2R	TF binding region
ENSG00000213081	chromatin interactions
ENSG00000267395	chromatin interactions

Extended variants
information (count: 525 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:525 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7578972	chr2:209208115-209208116	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530757181	chr2:209208148-209208149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183606529	chr2:209208205-209208206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114590797	chr2:209208240-209208241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386654579	chr2:209208276-209208277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374050545	chr2:209208277-209208278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57553077	chr2:209208291-209208292	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs73983756	chr2:209208334-209208335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7579320	chr2:209208410-209208411	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569851101	chr2:209208423-209208424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114105605	chr2:209208433-209208434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549057768	chr2:209208541-209208542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10582492	chr2:209208558-209208559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563008666	chr2:209208559-209208560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77984113	chr2:209208588-209208589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181823172	chr2:209208590-209208591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150421009	chr2:209208639-209208640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578242808	chr2:209208641-209208642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537763956	chr2:209208642-209208643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557231222	chr2:209208647-209208648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574181958	chr2:209208657-209208658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571202985	chr2:209208659-209208660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113582418	chr2:209208660-209208661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559789107	chr2:209208696-209208697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149180264	chr2:209208701-209208702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544982136	chr2:209208736-209208737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113492032	chr2:209208742-209208743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7355779	chr2:209208788-209208789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577755214	chr2:209208793-209208794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550060277	chr2:209208831-209208832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533885109	chr2:209208841-209208842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386654580	chr2:209208856-209208857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115942796	chr2:209208857-209208858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532179327	chr2:209208876-209208877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548937305	chr2:209208904-209208905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115393674	chr2:209208905-209208906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542281173	chr2:209208909-209208910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190471981	chr2:209208988-209208989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181652331	chr2:209208995-209208996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142719654	chr2:209209021-209209022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571272250	chr2:209209025-209209026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146926758	chr2:209209107-209209108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557631830	chr2:209209121-209209122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567905612	chr2:209209125-209209126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536838928	chr2:209209130-209209131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6435450	chr2:209209147-209209148	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs373222621	chr2:209209224-209209225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148015310	chr2:209209248-209209249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186789927	chr2:209209261-209209262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79664123	chr2:209209284-209209285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD

Chromatin state (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
2	chr2:209179000-209220600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr2:209180600-209224600	Strong transcription	Fetal Thymus	thymus
4	chr2:209182400-209224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:209185600-209224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:209188400-209213400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:209188400-209221400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:209188400-209223400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:209188600-209214200	Strong transcription	Placenta	Placenta
10	chr2:209188800-209208400	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:209188800-209208600	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr2:209188800-209211200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:209188800-209211200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:209188800-209212000	Strong transcription	Adipose Nuclei	Adipose
15	chr2:209188800-209212400	Strong transcription	NH-A	brain
16	chr2:209188800-209213200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:209188800-209214000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:209188800-209215400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:209188800-209220400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:209188800-209221200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:209188800-209221200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:209188800-209221800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:209188800-209222200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:209188800-209222400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:209188800-209222600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:209188800-209223600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:209188800-209223800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:209188800-209224000	Strong transcription	Primary B cells from cord blood	blood
29	chr2:209188800-209224000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr2:209188800-209224200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:209188800-209224400	Strong transcription	Dnd41	blood
32	chr2:209189200-209209000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:209190600-209224200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:209191000-209212600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:209191000-209218000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr2:209191200-209211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:209191200-209212600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:209191200-209215400	Weak transcription	Right Ventricle	heart
39	chr2:209191200-209215600	Weak transcription	Aorta	Aorta
40	chr2:209191200-209224200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr2:209192400-209218600	Weak transcription	Hela-S3	cervix
42	chr2:209192600-209214200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:209194000-209209000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr2:209194400-209214000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:209194400-209220600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:209194800-209208600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:209195400-209210600	Weak transcription	K562	blood
48	chr2:209195400-209220000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:209195400-209223800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:209195600-209216600	Weak transcription	Fetal Heart	heart

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