Variant report

Variant	nsv874849
Chromosome Location	chr2:112023328-112113544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:601)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:27)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:601 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:112077982-112078035	K562	blood:	n/a	n/a
2	ARID3A	chr2:112078700-112078866	K562	blood:	n/a	n/a
3	ATF1	chr2:112104247-112104437	K562	blood:	n/a	n/a
4	BACH1	chr2:112078641-112078944	K562	blood:	n/a	chr2:112078792-112078806
5	BACH1	chr2:112078561-112079019	H1-hESC	embryonic stem cell:	n/a	chr2:112078792-112078806
6	BATF	chr2:112037291-112037501	GM12878	blood:	n/a	n/a
7	BATF	chr2:112077193-112077517	GM12878	blood:	n/a	n/a
8	BATF	chr2:112049833-112050062	GM12878	blood:	n/a	n/a
9	BATF	chr2:112074557-112074916	GM12878	blood:	n/a	chr2:112074773-112074784
10	BATF	chr2:112077128-112077551	GM12878	blood:	n/a	n/a
11	BATF	chr2:112073963-112074275	GM12878	blood:	n/a	n/a
12	BATF	chr2:112049811-112050042	GM12878	blood:	n/a	n/a
13	BATF	chr2:112072875-112073150	GM12878	blood:	n/a	chr2:112073011-112073022 chr2:112072925-112072935
14	BATF	chr2:112074635-112074933	GM12878	blood:	n/a	chr2:112074773-112074784
15	BATF	chr2:112029454-112029812	GM12878	blood:	n/a	chr2:112029663-112029674
16	BATF	chr2:112072847-112073098	GM12878	blood:	n/a	chr2:112073011-112073022 chr2:112072925-112072935
17	BATF	chr2:112029496-112029836	GM12878	blood:	n/a	chr2:112029663-112029674
18	BCL11A	chr2:112072754-112073092	GM12878	blood:	n/a	chr2:112072837-112072846
19	BCL11A	chr2:112087560-112087812	GM12878	blood:	n/a	n/a
20	BCL11A	chr2:112072806-112073106	GM12878	blood:	n/a	chr2:112072837-112072846
21	BHLHE40	chr2:112078723-112078845	K562	blood:	n/a	n/a
22	BHLHE40	chr2:112050013-112050384	HepG2	liver:	n/a	n/a
23	CBX3	chr2:112109931-112110500	K562	blood:	n/a	n/a
24	CBX3	chr2:112040510-112040835	K562	blood:	n/a	n/a
25	CBX3	chr2:112097533-112097824	K562	blood:	n/a	n/a
26	CBX3	chr2:112104099-112104804	K562	blood:	n/a	n/a
27	CBX3	chr2:112097460-112097828	K562	blood:	n/a	n/a
28	CBX3	chr2:112077663-112078252	K562	blood:	n/a	n/a
29	CBX3	chr2:112078409-112078978	K562	blood:	n/a	n/a
30	CBX3	chr2:112109995-112110254	K562	blood:	n/a	n/a
31	CBX3	chr2:112105200-112105741	K562	blood:	n/a	n/a
32	CEBPB	chr2:112078650-112078865	A549	lung:	n/a	n/a
33	CEBPB	chr2:112049936-112050038	HepG2	liver:	n/a	n/a
34	CEBPB	chr2:112061597-112061658	HepG2	liver:	n/a	chr2:112061630-112061641
35	CEBPB	chr2:112110870-112111107	K562	blood:	n/a	n/a
36	CEBPB	chr2:112078542-112078948	K562	blood:	n/a	n/a
37	CEBPB	chr2:112049856-112050062	HepG2	liver:	n/a	n/a
38	CEBPB	chr2:112104062-112104580	K562	blood:	n/a	n/a
39	CEBPB	chr2:112104194-112104450	K562	blood:	n/a	n/a
40	CEBPB	chr2:112072831-112073009	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr2:112078571-112078941	IMR90	lung:	n/a	n/a
42	CEBPB	chr2:112078572-112078922	Hela-S3	cervix:	n/a	n/a
43	CEBPD	chr2:112077784-112078178	K562	blood:	n/a	n/a
44	CEBPD	chr2:112104075-112104720	K562	blood:	n/a	n/a
45	CEBPD	chr2:112078415-112078871	K562	blood:	n/a	n/a
46	CHD2	chr2:112078569-112078767	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr2:112024620-112024770	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr2:112048076-112048265	MCF-7	breast:	n/a	n/a
49	CTCF	chr2:112027654-112027710	A549	lung:	n/a	n/a
50	CTCF	chr2:112076636-112076705	Pancreas_OC	pancreas:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111879395..111881005-chr2:112073345..112075122,2	MCF-7	breast:
2	chr2:111878316..111879893-chr2:112101721..112103928,2	MCF-7	breast:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC108463.1-4	chr2:112024445-112025050	ENSG00000270190.1
2	lnc-AC108463.1-4	chr2:112024419-112025062	NONHSAT073632
3	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.10
4	lnc-BCL2L11-6	chr2:112080919-112081327	NONHSAT073618
5	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
6	lnc-BCL2L11-5	chr2:112085950-112086566	NONHSAT073637
7	lnc-BCL2L11-2	chr2:112043757-112044842	XLOC_001624
8	lnc-AC108463.1-3	chr2:112071889-112072139	ENSG00000172965.6
9	lnc-BCL2L11-5	chr2:112081889-112082063	NONHSAT073637
10	lnc-BCL2L11-5	chr2:112085950-112086268	l_1923_chr2:112081839-112086268_testes
11	lnc-AC108463.1-3	chr2:112101638-112101814	NONHSAT073622
12	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
13	lnc-BCL2L11-2	chr2:112037022-112037457	XLOC_001624
14	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
15	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
16	lnc-BCL2L11-2	chr2:112037444-112037486	XLOC_001624
17	lnc-BCL2L11-5	chr2:112081840-112081972	l_1923_chr2:112081839-112086268_testes
18	lnc-AC108463.1-3	chr2:112101638-112101814	ENSG00000172965.6
19	lnc-AC108463.1-3	chr2:112101638-112101701	NONHSAT073620
20	lnc-AC108463.1-6	chr2:112053206-112053623	NONHSAT073635
21	lnc-AC108463.1-3	chr2:112033908-112033997	ENSG00000172965.6
22	lnc-AC108463.1-3	chr2:112108185-112108338	ENSG00000172965.6
23	lnc-AC108463.1-3	chr2:112101789-112101814	NONHSAT073639
24	lnc-AC108463.1-3	chr2:112101638-112101675	ENSG00000172965.10
25	lnc-BCL2L11-6	chr2:112060981-112061323	NONHSAT073618
26	lnc-BCL2L11-5	chr2:112081976-112082063	l_1923_chr2:112081839-112086268_testes
27	lnc-AC108463.1-3	chr2:112101668-112101814	ENSG00000172965.6

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
MIR4435-1HG	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: 2176 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2176 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2946568	chr2:112023328-112023329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577735826	chr2:112023337-112023338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540224459	chr2:112023339-112023340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537566563	chr2:112023341-112023342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553531209	chr2:112023372-112023373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573667884	chr2:112023426-112023427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557520265	chr2:112023435-112023436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563046133	chr2:112023481-112023482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201280654	chr2:112023499-112023500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374722324	chr2:112023540-112023541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565577642	chr2:112023541-112023542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528021620	chr2:112023606-112023607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368013776	chr2:112023641-112023642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567587855	chr2:112023652-112023653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199785627	chr2:112023653-112023654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73956806	chr2:112023842-112023843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1706179	chr2:112023857-112023858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs3045818	chr2:112023863-112023864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144315648	chr2:112023937-112023938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551337142	chr2:112023969-112023970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571513031	chr2:112023999-112024000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533878994	chr2:112024062-112024063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553709060	chr2:112024075-112024076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573579915	chr2:112024107-112024108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536321347	chr2:112024172-112024173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181855923	chr2:112024222-112024223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147762387	chr2:112024228-112024229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545615428	chr2:112024286-112024287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185241389	chr2:112024305-112024306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76813445	chr2:112024306-112024307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541389050	chr2:112024319-112024320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561306290	chr2:112024321-112024322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs151125909	chr2:112024359-112024360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188858887	chr2:112024374-112024375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549820960	chr2:112024398-112024399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563442939	chr2:112024486-112024487	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs111323309	chr2:112024518-112024519	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs532513977	chr2:112024530-112024531	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs551542138	chr2:112024599-112024600	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs571383715	chr2:112024614-112024615	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs534069050	chr2:112024625-112024626	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs547392820	chr2:112024629-112024630	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs563077428	chr2:112024636-112024637	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs567232942	chr2:112024642-112024643	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs150257353	chr2:112024643-112024644	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs536258127	chr2:112024655-112024656	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs556242858	chr2:112024688-112024689	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs576196805	chr2:112024689-112024690	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs538773772	chr2:112024713-112024714	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs181288705	chr2:112024752-112024753	Weak transcription Enhancers	lncRNA	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:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112008600-112048600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:112010600-112024600	Weak transcription	HSMMtube	muscle
3	chr2:112016600-112029000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:112019200-112024200	Weak transcription	Ovary	ovary
5	chr2:112019200-112032600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:112020600-112024200	Weak transcription	Lung	lung
7	chr2:112020600-112024600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:112020600-112048000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:112022600-112023400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:112022800-112031200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:112023400-112046400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:112024000-112024400	Enhancers	Right Ventricle	heart
13	chr2:112024200-112025000	Enhancers	Lung	lung
14	chr2:112024200-112025200	Enhancers	Fetal Lung	lung
15	chr2:112024200-112025200	Enhancers	Ovary	ovary
16	chr2:112024200-112025200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:112024200-112025200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:112024200-112025400	Enhancers	Pancreas	Pancrea
19	chr2:112024200-112025600	Enhancers	Liver	Liver
20	chr2:112024200-112025600	Enhancers	Fetal Heart	heart
21	chr2:112024400-112025400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:112024600-112024800	Enhancers	HSMMtube	muscle
23	chr2:112024600-112025000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:112024600-112025000	Enhancers	Gastric	stomach
25	chr2:112024600-112025000	Enhancers	Stomach Mucosa	stomach
26	chr2:112024800-112025000	Enhancers	Fetal Muscle Trunk	muscle
27	chr2:112024800-112026000	Weak transcription	HSMMtube	muscle
28	chr2:112025000-112034400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:112025400-112031000	Weak transcription	Pancreas	Pancrea
30	chr2:112025600-112116600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:112025800-112037800	Weak transcription	HSMM	muscle
32	chr2:112028800-112029200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:112028800-112029400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:112028800-112029800	Enhancers	HMEC	breast
35	chr2:112028800-112029800	Enhancers	NHEK	skin
36	chr2:112029000-112029800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:112029400-112032000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:112031000-112031200	Enhancers	Adipose Nuclei	Adipose
39	chr2:112031000-112031200	Enhancers	Spleen	Spleen
40	chr2:112031000-112031400	Enhancers	Pancreas	Pancrea
41	chr2:112031200-112031400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:112031400-112032600	Weak transcription	Adipose Nuclei	Adipose
43	chr2:112031400-112036000	Weak transcription	Pancreas	Pancrea
44	chr2:112032600-112032800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:112032600-112032800	Enhancers	Left Ventricle	heart
46	chr2:112032600-112033000	Enhancers	Adipose Nuclei	Adipose
47	chr2:112032600-112033000	Enhancers	Psoas Muscle	Psoas
48	chr2:112032600-112033000	Enhancers	Right Atrium	heart
49	chr2:112032600-112033200	Enhancers	Liver	Liver
50	chr2:112032600-112033400	Enhancers	Skeletal Muscle Male	skeletal muscle

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