Variant report

Variant	nsv979097
Chromosome Location	chr2:112337222-112373568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:155)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:155 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr2:112338347-112338566	HepG2	liver:	n/a	n/a
2	BHLHE40	chr2:112356587-112356702	K562	blood:	n/a	n/a
3	CEBPB	chr2:112343564-112343637	IMR90	lung:	n/a	n/a
4	CEBPD	chr2:112356701-112357070	K562	blood:	n/a	n/a
5	CEBPD	chr2:112337237-112337671	K562	blood:	n/a	n/a
6	CTCF	chr2:112356864-112356940	Lung_OC	lung:	n/a	n/a
7	CTCF	chr2:112355081-112355175	GM10248	blood:	n/a	n/a
8	CTCF	chr2:112355300-112355450	WI-38	lung:	n/a	n/a
9	CTCF	chr2:112354999-112355209	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr2:112355017-112355180	Gliobla	brain:	n/a	n/a
11	CTCF	chr2:112355220-112355370	HBMEC	blood vessel:	n/a	n/a
12	CTCF	chr2:112355029-112355201	GM12891	blood:	n/a	n/a
13	CTCF	chr2:112355280-112355430	GM12864	blood:	n/a	n/a
14	CTCF	chr2:112355260-112355410	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr2:112355240-112355390	AoAF	blood vessel:	n/a	n/a
16	CTCF	chr2:112355220-112355370	HCM	heart:	n/a	n/a
17	CTCF	chr2:112355043-112355176	GM19240	blood:	n/a	n/a
18	CTCF	chr2:112355075-112355076	GM19239	blood:	n/a	n/a
19	CTCF	chr2:112355044-112355179	LNCaP	prostate:	n/a	n/a
20	CTCF	chr2:112355260-112355410	SAEC	small airway:	n/a	n/a
21	CTCF	chr2:112354987-112355188	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr2:112371643-112371711	GM20000	blood:	n/a	n/a
23	CTCF	chr2:112355035-112355165	Fibrobl	skin:	n/a	n/a
24	CTCF	chr2:112354969-112355232	MCF-7	breast:	n/a	n/a
25	CTCF	chr2:112355260-112355410	BJ	skin:	n/a	n/a
26	CTCF	chr2:112354980-112355224	MCF-7	breast:	n/a	n/a
27	CTCF	chr2:112355300-112355450	HEK293	kidney:	n/a	n/a
28	CTCF	chr2:112355260-112355410	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr2:112354974-112355262	A549	lung:	n/a	n/a
30	CTCF	chr2:112354989-112355229	MCF-7	breast:	n/a	n/a
31	CTCF	chr2:112355200-112355350	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr2:112355006-112355233	GM12878	blood:	n/a	n/a
33	CTCF	chr2:112355200-112355350	K562	blood:	n/a	n/a
34	CTCF	chr2:112354988-112355218	MCF-7	breast:	n/a	n/a
35	CTCF	chr2:112355300-112355450	HVMF	connective:	n/a	n/a
36	CTCF	chr2:112355002-112355221	MCF-7	breast:	n/a	n/a
37	CTCF	chr2:112354907-112355280	K562	blood:	n/a	n/a
38	CTCF	chr2:112355095-112355189	GM13977	blood:	n/a	n/a
39	CTCF	chr2:112355019-112355199	NHEK	skin:	n/a	n/a
40	CTCF	chr2:112360024-112360120	GM20000	blood:	n/a	n/a
41	CTCF	chr2:112355061-112355116	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr2:112355016-112355212	A549	lung:	n/a	n/a
43	CTCF	chr2:112354996-112355191	K562	blood:	n/a	n/a
44	CTCF	chr2:112355260-112355410	HepG2	liver:	n/a	n/a
45	CTCF	chr2:112354883-112355279	K562	blood:	n/a	n/a
46	CTCF	chr2:112364041-112364159	Lung_OC	lung:	n/a	n/a
47	CTCF	chr2:112355200-112355350	NHEK	skin:	n/a	n/a
48	CTCF	chr2:112354995-112355180	Lung_OC	lung:	n/a	n/a
49	CTCF	chr2:112355079-112355140	GM19239	blood:	n/a	n/a
50	CTCF	chr2:112355280-112355430	HCPEpiC	choroid plexus:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MERTK-1	chr2:112365277-112365592	NONHSAT073660
2	lnc-MERTK-1	chr2:112365418-112365592	XLOC_001626
3	lnc-MERTK-1	chr2:112369479-112369982	NONHSAT073660
4	lnc-MERTK-1	chr2:112369479-112370095	XLOC_001626

No data

Variant related genes	Relation type
ENSG00000225744	TF binding region

Extended variants
information (count: 620 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139925179	chr2:112337222-112337223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142253391	chr2:112337241-112337242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368426265	chr2:112337243-112337244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188669530	chr2:112337244-112337245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145354179	chr2:112337316-112337317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372306520	chr2:112337333-112337334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145215681	chr2:112337337-112337338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554041436	chr2:112337396-112337397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567101759	chr2:112337511-112337512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536299128	chr2:112337535-112337536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556283892	chr2:112337570-112337571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558004243	chr2:112337591-112337592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112839522	chr2:112337601-112337602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576237428	chr2:112337760-112337761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545147184	chr2:112337766-112337767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558851171	chr2:112337828-112337829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2718598	chr2:112337907-112337908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2718597	chr2:112338012-112338013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541317346	chr2:112338088-112338089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375841150	chr2:112338105-112338106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577878018	chr2:112338130-112338131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530030602	chr2:112338157-112338158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543448234	chr2:112338202-112338203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201283028	chr2:112338243-112338244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111697734	chr2:112338463-112338464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532439516	chr2:112338600-112338601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552654458	chr2:112338666-112338667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571310441	chr2:112338739-112338740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537339161	chr2:112338774-112338775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547371784	chr2:112338825-112338826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567591163	chr2:112338854-112338855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71244122	chr2:112338859-112338860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536236427	chr2:112338863-112338864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2594394	chr2:112338987-112338988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556222722	chr2:112339117-112339118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs202212321	chr2:112339132-112339133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13393970	chr2:112339144-112339145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558623153	chr2:112339161-112339162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572550781	chr2:112339162-112339163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541654216	chr2:112339179-112339180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375347424	chr2:112339189-112339190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369299505	chr2:112339214-112339215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200364656	chr2:112339218-112339219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193270686	chr2:112339219-112339220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373037650	chr2:112339271-112339272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563582502	chr2:112339283-112339284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147498337	chr2:112339284-112339285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113342944	chr2:112339285-112339286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184147230	chr2:112339297-112339298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545927443	chr2:112339358-112339359	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112337200-112337800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:112337200-112338000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:112337200-112338800	Weak transcription	HepG2	liver
4	chr2:112338800-112340400	Enhancers	HepG2	liver
5	chr2:112339200-112340000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:112339200-112340200	Enhancers	Liver	Liver
7	chr2:112340200-112342400	Weak transcription	Liver	Liver
8	chr2:112340400-112342400	Weak transcription	HepG2	liver
9	chr2:112342400-112343200	Enhancers	HepG2	liver
10	chr2:112342400-112344000	Enhancers	Liver	Liver
11	chr2:112354400-112354600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:112354400-112355600	Enhancers	Fetal Thymus	thymus
13	chr2:112354400-112356800	Enhancers	HUVEC	blood vessel
14	chr2:112354800-112355400	Enhancers	Dnd41	blood
15	chr2:112355200-112355400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:112355200-112355600	Enhancers	HepG2	liver
17	chr2:112355400-112356400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:112355600-112356000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:112356200-112356800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:112356400-112356800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr2:112356400-112356800	Enhancers	K562	blood
22	chr2:112363400-112363800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr2:112364000-112364200	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:112364400-112365000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:112365000-112365200	Enhancers	Primary hematopoietic stem cells	blood
26	chr2:112365200-112368000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:112367600-112369200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:112367600-112369600	Enhancers	Dnd41	blood
29	chr2:112367600-112369800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:112367600-112369800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:112368000-112369800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr2:112368000-112369800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr2:112368000-112369800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr2:112368200-112369600	Enhancers	Fetal Thymus	thymus
35	chr2:112369800-112374200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:112369800-112374200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr2:112369800-112374400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:112372800-112374600	Enhancers	HepG2	liver
39	chr2:112373000-112373200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:112373000-112373200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:112373000-112373200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:112373200-112375200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:112373400-112374600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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