Variant report

Variant	nsv819716
Chromosome Location	chr2:111752041-111753617
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	CEBPB	chr2:111751848-111752167	HepG2	liver:	n/a	chr2:111752000-111752011
2	CEBPB	chr2:111751851-111752162	K562	blood:	n/a	chr2:111752000-111752011
3	CTCF	chr2:111752300-111752450	GM12869	blood:	n/a	n/a
4	EP300	chr2:111753245-111753394	GM12878	blood:	n/a	n/a
5	FOS	chr2:111753579-111753770	MCF10A-Er-Src	breast:	n/a	chr2:111753668-111753680 chr2:111753669-111753679 chr2:111753666-111753677 chr2:111753670-111753678
6	FOS	chr2:111753532-111753805	MCF10A-Er-Src	breast:	n/a	chr2:111753668-111753680 chr2:111753669-111753679 chr2:111753666-111753677 chr2:111753670-111753678
7	FOS	chr2:111753488-111753767	MCF10A-Er-Src	breast:	n/a	chr2:111753668-111753680 chr2:111753669-111753679 chr2:111753666-111753677 chr2:111753670-111753678
8	GABPA	chr2:111751807-111752424	HL-60	blood:	n/a	n/a
9	JUND	chr2:111753558-111753755	K562	blood:	n/a	chr2:111753668-111753680 chr2:111753669-111753679 chr2:111753666-111753677 chr2:111753670-111753678
10	MAFK	chr2:111753594-111753820	K562	blood:	n/a	n/a
11	MAX	chr2:111751197-111752401	NB4	blood:	n/a	chr2:111751616-111751626 chr2:111751630-111751639
12	MYC	chr2:111751439-111752072	MCF10A-Er-Src	breast:	n/a	chr2:111751616-111751626 chr2:111751630-111751639
13	MYC	chr2:111751304-111752480	NB4	blood:	n/a	chr2:111751616-111751626 chr2:111751630-111751639
14	POLR2A	chr2:111751069-111752405	HL-60	blood:	n/a	n/a
15	POLR2A	chr2:111752150-111752355	GM12878	blood:	n/a	n/a
16	REST	chr2:111751597-111752566	HL-60	blood:	n/a	chr2:111751659-111751677
17	SPI1	chr2:111751995-111752552	HL-60	blood:	n/a	chr2:111752400-111752409
18	SPI1	chr2:111751809-111752591	HL-60	blood:	n/a	chr2:111752400-111752409
19	STAT3	chr2:111752404-111752778	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111750836..111753179-chr2:111879308..111880841,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL2L11-4	chr2:111753534-111753581	NONHSAT073610
2	lnc-BCL2L11-4	chr2:111753493-111753928	NONHSAT073609

Variant related genes	Relation type
ACOXL	TF binding region
ENSG00000153094	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543524689	chr2:111752090-111752091	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs150449635	chr2:111752151-111752152	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs576854153	chr2:111752160-111752161	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs11901092	chr2:111752258-111752259	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs138290049	chr2:111752281-111752282	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs528407769	chr2:111752291-111752292	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs542113737	chr2:111752292-111752293	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs13405936	chr2:111752416-111752417	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530647918	chr2:111752491-111752492	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs550737397	chr2:111752517-111752518	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs143907716	chr2:111752554-111752555	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs370782307	chr2:111752565-111752566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs542062956	chr2:111752613-111752614	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs546592525	chr2:111752620-111752621	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs566488035	chr2:111752641-111752642	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs535760383	chr2:111752645-111752646	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs377537120	chr2:111752658-111752659	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs115787204	chr2:111752699-111752700	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569184039	chr2:111752715-111752716	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs139153935	chr2:111752731-111752732	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs558318917	chr2:111752792-111752793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs559696199	chr2:111752800-111752801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576910090	chr2:111752801-111752802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182882506	chr2:111752819-111752820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188001644	chr2:111752839-111752840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs13416533	chr2:111752883-111752884	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs541827434	chr2:111752896-111752897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs56965314	chr2:111752908-111752909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs4849325	chr2:111752922-111752923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7581900	chr2:111752950-111752951	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs111873927	chr2:111752956-111752957	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs532025294	chr2:111753014-111753015	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148685104	chr2:111753016-111753017	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs13339827	chr2:111753032-111753033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs184225951	chr2:111753045-111753046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567318996	chr2:111753076-111753077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs374379640	chr2:111753077-111753078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10661072	chr2:111753085-111753086	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs56805162	chr2:111753095-111753096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs116292757	chr2:111753096-111753097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs34983121	chr2:111753153-111753154	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs111711044	chr2:111753173-111753174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs529276020	chr2:111753186-111753187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548948269	chr2:111753215-111753216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569488584	chr2:111753219-111753220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6542248	chr2:111753228-111753229	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs551682878	chr2:111753260-111753261	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs375748751	chr2:111753263-111753264	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs539565709	chr2:111753284-111753285	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs115158358	chr2:111753286-111753287	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111746200-111754200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:111749200-111752600	Enhancers	Fetal Lung	lung
3	chr2:111749200-111756200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:111750000-111752600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:111750000-111752600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr2:111750000-111753200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:111750200-111752600	Enhancers	Primary B cells from cord blood	blood
8	chr2:111750400-111757000	Weak transcription	Lung	lung
9	chr2:111750600-111752400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr2:111750800-111752400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:111750800-111752600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:111751000-111752600	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:111751200-111752400	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:111751200-111752400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:111751200-111752400	Flanking Active TSS	Dnd41	blood
16	chr2:111751200-111752600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:111751400-111752600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr2:111751400-111752600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr2:111751400-111755000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:111751600-111752200	Enhancers	Adipose Nuclei	Adipose
21	chr2:111751600-111752200	Enhancers	Duodenum Mucosa	Duodenum
22	chr2:111751600-111752400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:111751600-111752400	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr2:111751600-111752400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:111751600-111752400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:111751600-111752400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr2:111751600-111752400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr2:111751600-111752400	Enhancers	Thymus	Thymus
29	chr2:111751600-111752600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr2:111751600-111752600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:111751600-111752600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
32	chr2:111751600-111752600	Enhancers	Fetal Intestine Large	intestine
33	chr2:111751600-111752600	Enhancers	Placenta	Placenta
34	chr2:111751600-111752600	Enhancers	Fetal Thymus	thymus
35	chr2:111751600-111752600	Enhancers	Small Intestine	intestine
36	chr2:111751600-111752600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr2:111751800-111752400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:111751800-111752400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:111751800-111752400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:111751800-111752400	Enhancers	Fetal Intestine Small	intestine
41	chr2:111751800-111752400	Enhancers	Fetal Stomach	stomach
42	chr2:111751800-111752600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:111751800-111759200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:111752000-111752200	Enhancers	Fetal Muscle Leg	muscle
45	chr2:111752000-111752200	Enhancers	Stomach Mucosa	stomach
46	chr2:111752000-111752400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr2:111752000-111752400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr2:111752000-111752400	Enhancers	Spleen	Spleen
49	chr2:111752000-111752600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr2:111752000-111757000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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