Variant report

Variant	esv32858
Chromosome Location	chr2:112175086-112206079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:542)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:112191601-112191749	K562	blood:	n/a	n/a
2	ATF1	chr2:112191568-112191846	K562	blood:	n/a	n/a
3	ATF2	chr2:112183361-112183645	GM12878	blood:	n/a	n/a
4	ATF2	chr2:112183348-112183699	GM12878	blood:	n/a	n/a
5	BATF	chr2:112183233-112184090	GM12878	blood:	n/a	n/a
6	BATF	chr2:112186898-112187455	GM12878	blood:	n/a	n/a
7	BATF	chr2:112195786-112196106	GM12878	blood:	n/a	n/a
8	BATF	chr2:112195321-112195643	GM12878	blood:	n/a	chr2:112195574-112195583
9	BATF	chr2:112193934-112194446	GM12878	blood:	n/a	chr2:112194264-112194272
10	BATF	chr2:112195246-112195683	GM12878	blood:	n/a	chr2:112195574-112195583
11	BATF	chr2:112190544-112190853	GM12878	blood:	n/a	n/a
12	BATF	chr2:112188889-112189327	GM12878	blood:	n/a	n/a
13	BATF	chr2:112190573-112190841	GM12878	blood:	n/a	n/a
14	BATF	chr2:112198041-112198360	GM12878	blood:	n/a	n/a
15	BATF	chr2:112182048-112182971	GM12878	blood:	n/a	n/a
16	BATF	chr2:112186949-112187402	GM12878	blood:	n/a	n/a
17	BATF	chr2:112183252-112183819	GM12878	blood:	n/a	n/a
18	BATF	chr2:112193854-112194550	GM12878	blood:	n/a	chr2:112194264-112194272
19	BATF	chr2:112188947-112189209	GM12878	blood:	n/a	n/a
20	BATF	chr2:112195688-112196162	GM12878	blood:	n/a	n/a
21	BATF	chr2:112182205-112182825	GM12878	blood:	n/a	n/a
22	BCL11A	chr2:112195753-112196105	GM12878	blood:	n/a	n/a
23	BCL11A	chr2:112197940-112198313	GM12878	blood:	n/a	chr2:112198064-112198073
24	BCL11A	chr2:112193953-112194442	GM12878	blood:	n/a	n/a
25	BCL11A	chr2:112188940-112189225	GM12878	blood:	n/a	n/a
26	BCL11A	chr2:112195836-112195990	GM12878	blood:	n/a	n/a
27	BCL11A	chr2:112186983-112187434	GM12878	blood:	n/a	chr2:112187266-112187275
28	BCL11A	chr2:112194068-112194334	GM12878	blood:	n/a	n/a
29	BCL11A	chr2:112182226-112182918	GM12878	blood:	n/a	n/a
30	BCL11A	chr2:112197983-112198329	GM12878	blood:	n/a	chr2:112198064-112198073
31	BCL11A	chr2:112195289-112195669	GM12878	blood:	n/a	n/a
32	BCL11A	chr2:112195300-112195479	GM12878	blood:	n/a	n/a
33	BCL11A	chr2:112183223-112183810	GM12878	blood:	n/a	n/a
34	BCL11A	chr2:112182331-112182639	GM12878	blood:	n/a	n/a
35	BCL11A	chr2:112188884-112189288	GM12878	blood:	n/a	n/a
36	BCL3	chr2:112183366-112183629	GM12878	blood:	n/a	n/a
37	BCLAF1	chr2:112191465-112191824	K562	blood:	n/a	n/a
38	BHLHE40	chr2:112183609-112183642	GM12878	blood:	n/a	n/a
39	BHLHE40	chr2:112191422-112191844	K562	blood:	n/a	n/a
40	CBX3	chr2:112191293-112191957	K562	blood:	n/a	n/a
41	CCNT2	chr2:112191640-112191788	K562	blood:	n/a	n/a
42	CEBPB	chr2:112191240-112191929	K562	blood:	n/a	n/a
43	CEBPB	chr2:112202756-112203132	K562	blood:	n/a	n/a
44	CEBPB	chr2:112202782-112203052	K562	blood:	n/a	n/a
45	CEBPB	chr2:112191483-112191849	K562	blood:	n/a	n/a
46	CEBPB	chr2:112188564-112188883	HepG2	liver:	n/a	chr2:112188841-112188849
47	CEBPD	chr2:112203077-112203550	K562	blood:	n/a	n/a
48	CEBPD	chr2:112194817-112195219	K562	blood:	n/a	n/a
49	CEBPD	chr2:112191376-112192004	K562	blood:	n/a	n/a
50	CTCF	chr2:112205165-112205357	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC108463.1-3	chr2:112199085-112199198	ENSG00000172965.6
2	lnc-AC108463.1-3	chr2:112187048-112187197	NONHSAT073639
3	lnc-BCL2L11-8	chr2:112186899-112187197	NONHSAT073647
4	lnc-AC108463.1-3	chr2:112186886-112187197	NONHSAT073642
5	lnc-AC108463.1-3	chr2:112186891-112187197	ENSG00000172965.6
6	lnc-AC108463.1-3	chr2:112186891-112187197	ENSG00000172965.6
7	lnc-AC108463.1-3	chr2:112187020-112187197	ENSG00000172965.6

No data

Variant related genes	Relation type
MIR4435-1HG	TF binding region

Extended variants
information (count: 748 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:748 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552305241	chr2:112175100-112175101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566102290	chr2:112175104-112175105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535214062	chr2:112175111-112175112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374071995	chr2:112175207-112175208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554914549	chr2:112175208-112175209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568718280	chr2:112175213-112175214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200649583	chr2:112175252-112175253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537360546	chr2:112175272-112175273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556907054	chr2:112175318-112175319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565166604	chr2:112175356-112175357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576828917	chr2:112175396-112175397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545850796	chr2:112175411-112175412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144793568	chr2:112175412-112175413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553421319	chr2:112175421-112175422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573302759	chr2:112175431-112175432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530654011	chr2:112175449-112175450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs202072285	chr2:112175452-112175453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560960385	chr2:112175464-112175465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs36032390	chr2:112175519-112175520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574751676	chr2:112175529-112175530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543762709	chr2:112175556-112175557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563229734	chr2:112175622-112175623	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs189124419	chr2:112175660-112175661	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs34413304	chr2:112175702-112175703	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs377433899	chr2:112175712-112175713	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs370677423	chr2:112175769-112175770	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs376049083	chr2:112175770-112175771	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs72839539	chr2:112175790-112175791	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs76952670	chr2:112175828-112175829	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs368904954	chr2:112175835-112175836	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs532157161	chr2:112175863-112175864	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs34526169	chr2:112175906-112175907	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs552244535	chr2:112175950-112175951	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs559398040	chr2:112175952-112175953	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs528204557	chr2:112175955-112175956	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs35117063	chr2:112175971-112175972	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs548725743	chr2:112175996-112175997	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs568580775	chr2:112175998-112175999	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs537298543	chr2:112176018-112176019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550869803	chr2:112176030-112176031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34082177	chr2:112176067-112176068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570848401	chr2:112176091-112176092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374497516	chr2:112176139-112176140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539444144	chr2:112176235-112176236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150156618	chr2:112176281-112176282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553119682	chr2:112176299-112176300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377318913	chr2:112176310-112176311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573271175	chr2:112176313-112176314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535592369	chr2:112176361-112176362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554722038	chr2:112176362-112176363	Weak transcription Enhancers	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:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112113800-112191600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:112150000-112184600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:112157800-112182200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:112166600-112184800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:112166600-112184800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:112166800-112187600	Weak transcription	NHEK	skin
7	chr2:112169600-112182000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:112171400-112184800	Weak transcription	NHLF	lung
9	chr2:112171800-112180200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr2:112172600-112175800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:112172600-112176000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr2:112172600-112177200	Enhancers	K562	blood
13	chr2:112172800-112176000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:112173600-112176000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:112173600-112176000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:112173600-112177800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:112173600-112177800	Enhancers	HepG2	liver
18	chr2:112174000-112175600	Enhancers	NH-A	brain
19	chr2:112174000-112176000	Enhancers	Osteobl	bone
20	chr2:112174000-112176200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:112174000-112177200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:112174200-112175400	Weak transcription	Primary B cells from cord blood	blood
23	chr2:112174400-112175600	Weak transcription	Fetal Kidney	kidney
24	chr2:112174400-112175800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:112174400-112186000	Weak transcription	NHDF-Ad	bronchial
26	chr2:112174600-112176000	Enhancers	A549	lung
27	chr2:112174800-112175800	Weak transcription	Fetal Intestine Large	intestine
28	chr2:112174800-112176400	Weak transcription	Placenta	Placenta
29	chr2:112174800-112176600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:112174800-112178400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:112174800-112185200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:112174800-112186600	Weak transcription	HSMMtube	muscle
33	chr2:112175000-112181800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr2:112175000-112184800	Weak transcription	HSMM	muscle
35	chr2:112175000-112185000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:112175400-112175800	Enhancers	Primary B cells from cord blood	blood
37	chr2:112175600-112176000	Flanking Active TSS	NH-A	brain
38	chr2:112175800-112176000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:112175800-112176000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:112175800-112176000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:112175800-112176000	Enhancers	Fetal Kidney	kidney
42	chr2:112175800-112176200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:112175800-112176600	Enhancers	Fetal Intestine Large	intestine
44	chr2:112175800-112177000	Enhancers	Liver	Liver
45	chr2:112175800-112177200	Enhancers	Fetal Intestine Small	intestine
46	chr2:112176000-112180200	Weak transcription	A549	lung
47	chr2:112176000-112184800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:112176000-112194800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:112176000-112197400	Weak transcription	Osteobl	bone
50	chr2:112176000-112199000	Weak transcription	NH-A	brain

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