Variant report

Variant	esv1792355
Chromosome Location	chr2:112002130-112091845
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:598)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:22)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:598 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:112004323-112004568	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:112078700-112078866	K562	blood:	n/a	n/a
3	ARID3A	chr2:112077982-112078035	K562	blood:	n/a	n/a
4	BACH1	chr2:112078561-112079019	H1-hESC	embryonic stem cell:	n/a	chr2:112078792-112078806
5	BACH1	chr2:112078641-112078944	K562	blood:	n/a	chr2:112078792-112078806
6	BATF	chr2:112072875-112073150	GM12878	blood:	n/a	chr2:112073011-112073022 chr2:112072925-112072935
7	BATF	chr2:112049811-112050042	GM12878	blood:	n/a	n/a
8	BATF	chr2:112037291-112037501	GM12878	blood:	n/a	n/a
9	BATF	chr2:112077193-112077517	GM12878	blood:	n/a	n/a
10	BATF	chr2:112073963-112074275	GM12878	blood:	n/a	n/a
11	BATF	chr2:112029496-112029836	GM12878	blood:	n/a	chr2:112029663-112029674
12	BATF	chr2:112072847-112073098	GM12878	blood:	n/a	chr2:112073011-112073022 chr2:112072925-112072935
13	BATF	chr2:112074557-112074916	GM12878	blood:	n/a	chr2:112074773-112074784
14	BATF	chr2:112029454-112029812	GM12878	blood:	n/a	chr2:112029663-112029674
15	BATF	chr2:112074635-112074933	GM12878	blood:	n/a	chr2:112074773-112074784
16	BATF	chr2:112049833-112050062	GM12878	blood:	n/a	n/a
17	BATF	chr2:112077128-112077551	GM12878	blood:	n/a	n/a
18	BCL11A	chr2:112072806-112073106	GM12878	blood:	n/a	chr2:112072837-112072846
19	BCL11A	chr2:112087560-112087812	GM12878	blood:	n/a	n/a
20	BCL11A	chr2:112072754-112073092	GM12878	blood:	n/a	chr2:112072837-112072846
21	BHLHE40	chr2:112004162-112004599	HepG2	liver:	n/a	n/a
22	BHLHE40	chr2:112078723-112078845	K562	blood:	n/a	n/a
23	BHLHE40	chr2:112050013-112050384	HepG2	liver:	n/a	n/a
24	BRCA1	chr2:112004146-112004370	HepG2	liver:	n/a	n/a
25	CBX3	chr2:112078409-112078978	K562	blood:	n/a	n/a
26	CBX3	chr2:112077663-112078252	K562	blood:	n/a	n/a
27	CBX3	chr2:112040510-112040835	K562	blood:	n/a	n/a
28	CEBPB	chr2:112078542-112078948	K562	blood:	n/a	n/a
29	CEBPB	chr2:112072831-112073009	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr2:112078572-112078922	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr2:112049936-112050038	HepG2	liver:	n/a	n/a
32	CEBPB	chr2:112049856-112050062	HepG2	liver:	n/a	n/a
33	CEBPB	chr2:112061597-112061658	HepG2	liver:	n/a	chr2:112061630-112061641
34	CEBPB	chr2:112078650-112078865	A549	lung:	n/a	n/a
35	CEBPB	chr2:112078571-112078941	IMR90	lung:	n/a	n/a
36	CEBPD	chr2:112077784-112078178	K562	blood:	n/a	n/a
37	CEBPD	chr2:112078415-112078871	K562	blood:	n/a	n/a
38	CHD2	chr2:112004066-112004248	HepG2	liver:	n/a	n/a
39	CHD2	chr2:112078569-112078767	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr2:112062913-112063047	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:112024587-112025031	SK-N-SH	brain:	n/a	n/a
42	CTCF	chr2:112015540-112015690	WI-38	lung:	n/a	n/a
43	CTCF	chr2:112027598-112027757	GM19240	blood:	n/a	n/a
44	CTCF	chr2:112009074-112009166	Fibrobl	skin:	n/a	n/a
45	CTCF	chr2:112086986-112087167	NHEK	skin:	n/a	n/a
46	CTCF	chr2:112071487-112071553	Lung_OC	lung:	n/a	n/a
47	CTCF	chr2:112062941-112063032	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr2:112076636-112076705	Pancreas_OC	pancreas:	n/a	n/a
49	CTCF	chr2:112071440-112071551	MCF-7	breast:	n/a	n/a
50	CTCF	chr2:112027655-112027760	GM13977	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:111970999..111973382-chr2:112004350..112006635,2	MCF-7	breast:
2	chr2:111879395..111881005-chr2:112073345..112075122,2	MCF-7	breast:
3	chr2:111996763..111999930-chr2:112002314..112005967,4	K562	blood:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL2L11-2	chr2:112043757-112044842	XLOC_001624
2	lnc-BCL2L11-6	chr2:112060981-112061323	NONHSAT073618
3	lnc-AC108463.1-4	chr2:112024445-112025050	ENSG00000270190.1
4	lnc-AC108463.1-3	chr2:112005007-112005135	ENSG00000172965.6
5	lnc-BCL2L11-2	chr2:112022860-112023040	XLOC_001624
6	lnc-BCL2L11-5	chr2:112081889-112082063	NONHSAT073637
7	lnc-AC108463.1-3	chr2:112071889-112072139	ENSG00000172965.6
8	lnc-AC108463.1-4	chr2:112024419-112025062	NONHSAT073632
9	lnc-AC108463.1-3	chr2:112005725-112005818	NONHSAT073622
10	lnc-AC108463.1-3	chr2:112033908-112033997	ENSG00000172965.6
11	lnc-BCL2L11-5	chr2:112081976-112082063	l_1923_chr2:112081839-112086268_testes
12	lnc-BCL2L11-6	chr2:112080919-112081327	NONHSAT073618
13	lnc-BCL2L11-2	chr2:112037022-112037457	XLOC_001624
14	lnc-AC108463.1-3	chr2:112005725-112005822	NONHSAT073620
15	lnc-AC108463.1-3	chr2:112005725-112005818	ENSG00000172965.6
16	lnc-BCL2L11-5	chr2:112085950-112086566	NONHSAT073637
17	lnc-AC108463.1-3	chr2:112004962-112005137	NONHSAT073620
18	lnc-AC108463.1-6	chr2:112053206-112053623	NONHSAT073635
19	lnc-BCL2L11-5	chr2:112081840-112081972	l_1923_chr2:112081839-112086268_testes
20	lnc-BCL2L11-5	chr2:112085950-112086268	l_1923_chr2:112081839-112086268_testes
21	lnc-AC108463.1-3	chr2:112005725-112005818	ENSG00000172965.6
22	lnc-BCL2L11-2	chr2:112037444-112037486	XLOC_001624

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4435	chr2:112078638-112078659	MIMAT0018951_1

No data

Variant related genes	Relation type
ENSG00000270190	TF binding region
RPS14P4	TF binding region
ENSG00000229118	TF binding region
MIR4435-1	TF binding region
ENSG00000153094	chromatin interactions
KLHL24	miRNA target sites
ASCC3	miRNA target sites
ITSN2	miRNA target sites

Extended variants
information (count: 2431 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2431 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4848426	chr2:112002130-112002131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs202134027	chr2:112002265-112002266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs70962929	chr2:112002292-112002293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs66494224	chr2:112002314-112002315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554575395	chr2:112002349-112002350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115370481	chr2:112002366-112002367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537332994	chr2:112002372-112002373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556916900	chr2:112002382-112002383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576964732	chr2:112002470-112002471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545632755	chr2:112002471-112002472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371336134	chr2:112002521-112002522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144476624	chr2:112002562-112002563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35619993	chr2:112002587-112002588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544795549	chr2:112002673-112002674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561725126	chr2:112002709-112002710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531143172	chr2:112002715-112002716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565017609	chr2:112002775-112002776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544882772	chr2:112002785-112002786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564573255	chr2:112002810-112002811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116278190	chr2:112002823-112002824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12990654	chr2:112002875-112002876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75340441	chr2:112002921-112002922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565801414	chr2:112002922-112002923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528170680	chr2:112002939-112002940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192549421	chr2:112002941-112002942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369944270	chr2:112002943-112002944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183417544	chr2:112003027-112003028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77732623	chr2:112003044-112003045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536992143	chr2:112003120-112003121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550854522	chr2:112003121-112003122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34092842	chr2:112003127-112003128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544265839	chr2:112003136-112003137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146643739	chr2:112003144-112003145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552722740	chr2:112003162-112003163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6747657	chr2:112003163-112003164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs535539328	chr2:112003202-112003203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546874602	chr2:112003235-112003236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115500802	chr2:112003292-112003293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377286737	chr2:112003296-112003297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116043883	chr2:112003302-112003303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544235850	chr2:112003312-112003313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141339876	chr2:112003315-112003316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73956803	chr2:112003322-112003323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540855110	chr2:112003362-112003363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534392473	chr2:112003386-112003387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145129308	chr2:112003405-112003406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548302126	chr2:112003412-112003413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187778964	chr2:112003427-112003428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552071248	chr2:112003431-112003432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75309174	chr2:112003449-112003450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	22314128	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111954800-112006800	Weak transcription	HUVEC	blood vessel
2	chr2:111975200-112008200	Weak transcription	Pancreas	Pancrea
3	chr2:111977600-112011400	Weak transcription	A549	lung
4	chr2:111985800-112009600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:111986200-112004400	Weak transcription	Osteobl	bone
6	chr2:111986400-112004000	Weak transcription	NHDF-Ad	bronchial
7	chr2:111990000-112004000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:111993200-112008200	Weak transcription	Aorta	Aorta
9	chr2:111993200-112008200	Weak transcription	Lung	lung
10	chr2:111993600-112004000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:111993600-112004000	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:111994000-112006800	Weak transcription	Adipose Nuclei	Adipose
13	chr2:111994000-112009600	Weak transcription	Left Ventricle	heart
14	chr2:111994400-112003800	Weak transcription	HSMMtube	muscle
15	chr2:111994400-112004000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:111994400-112004000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:111994400-112006600	Weak transcription	Right Ventricle	heart
18	chr2:111994600-112004400	Weak transcription	NHEK	skin
19	chr2:111995200-112004000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:111995600-112006200	Weak transcription	Gastric	stomach
21	chr2:111995800-112004000	Weak transcription	K562	blood
22	chr2:111996200-112004200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr2:111996400-112005200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:111996400-112006600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:111996400-112009000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:111996600-112004200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:111996800-112004000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:111997000-112004600	Weak transcription	NH-A	brain
29	chr2:111997000-112005000	Weak transcription	NHLF	lung
30	chr2:111997000-112008200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:111997200-112004000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:111997400-112003400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:111997600-112004000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:111997800-112004000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:111998000-112003800	Weak transcription	HepG2	liver
36	chr2:111998000-112004200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:111998000-112004400	Weak transcription	Dnd41	blood
38	chr2:112000800-112004000	Weak transcription	HSMM	muscle
39	chr2:112002200-112002600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:112002200-112003000	Enhancers	Liver	Liver
41	chr2:112002600-112004000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:112002600-112008200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:112002800-112004400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:112003400-112006600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:112003400-112006800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:112003800-112004200	Enhancers	HepG2	liver
47	chr2:112003800-112005600	Genic enhancers	HSMMtube	muscle
48	chr2:112004000-112004400	Enhancers	Fetal Muscle Leg	muscle
49	chr2:112004000-112004800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:112004000-112005000	Strong transcription	NHDF-Ad	bronchial

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