Variant report

Variant	esv1794699
Chromosome Location	chr2:112046160-112099876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:392)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:9)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

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	BACH1	chr2:112078561-112079019	H1-hESC	embryonic stem cell:	n/a	chr2:112078792-112078806
4	BACH1	chr2:112078641-112078944	K562	blood:	n/a	chr2:112078792-112078806
5	BATF	chr2:112074635-112074933	GM12878	blood:	n/a	chr2:112074773-112074784
6	BATF	chr2:112077193-112077517	GM12878	blood:	n/a	n/a
7	BATF	chr2:112049811-112050042	GM12878	blood:	n/a	n/a
8	BATF	chr2:112074557-112074916	GM12878	blood:	n/a	chr2:112074773-112074784
9	BATF	chr2:112072847-112073098	GM12878	blood:	n/a	chr2:112073011-112073022 chr2:112072925-112072935
10	BATF	chr2:112077128-112077551	GM12878	blood:	n/a	n/a
11	BATF	chr2:112073963-112074275	GM12878	blood:	n/a	n/a
12	BATF	chr2:112072875-112073150	GM12878	blood:	n/a	chr2:112073011-112073022 chr2:112072925-112072935
13	BATF	chr2:112049833-112050062	GM12878	blood:	n/a	n/a
14	BCL11A	chr2:112072806-112073106	GM12878	blood:	n/a	chr2:112072837-112072846
15	BCL11A	chr2:112087560-112087812	GM12878	blood:	n/a	n/a
16	BCL11A	chr2:112072754-112073092	GM12878	blood:	n/a	chr2:112072837-112072846
17	BHLHE40	chr2:112078723-112078845	K562	blood:	n/a	n/a
18	BHLHE40	chr2:112050013-112050384	HepG2	liver:	n/a	n/a
19	CBX3	chr2:112077663-112078252	K562	blood:	n/a	n/a
20	CBX3	chr2:112078409-112078978	K562	blood:	n/a	n/a
21	CBX3	chr2:112097533-112097824	K562	blood:	n/a	n/a
22	CBX3	chr2:112097460-112097828	K562	blood:	n/a	n/a
23	CEBPB	chr2:112072831-112073009	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr2:112078571-112078941	IMR90	lung:	n/a	n/a
25	CEBPB	chr2:112078572-112078922	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr2:112078650-112078865	A549	lung:	n/a	n/a
27	CEBPB	chr2:112049936-112050038	HepG2	liver:	n/a	n/a
28	CEBPB	chr2:112061597-112061658	HepG2	liver:	n/a	chr2:112061630-112061641
29	CEBPB	chr2:112078542-112078948	K562	blood:	n/a	n/a
30	CEBPB	chr2:112049856-112050062	HepG2	liver:	n/a	n/a
31	CEBPD	chr2:112078415-112078871	K562	blood:	n/a	n/a
32	CEBPD	chr2:112077784-112078178	K562	blood:	n/a	n/a
33	CHD2	chr2:112078569-112078767	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr2:112048140-112048290	BJ	skin:	n/a	n/a
35	CTCF	chr2:112062938-112063048	MCF-7	breast:	n/a	n/a
36	CTCF	chr2:112071461-112071541	MCF-7	breast:	n/a	n/a
37	CTCF	chr2:112071457-112071566	MCF-7	breast:	n/a	n/a
38	CTCF	chr2:112048040-112048190	NHDF-neo	bronchial:	n/a	n/a
39	CTCF	chr2:112071426-112071612	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chr2:112048000-112048150	BJ	skin:	n/a	n/a
41	CTCF	chr2:112048040-112048190	AG10803	skin:	n/a	n/a
42	CTCF	chr2:112048020-112048170	HEEpiC	esophagus:	n/a	n/a
43	CTCF	chr2:112048170-112048201	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr2:112079564-112079654	K562	blood:	n/a	chr2:112079612-112079633 chr2:112079613-112079621 chr2:112079610-112079628
45	CTCF	chr2:112071424-112071600	MCF-7	breast:	n/a	n/a
46	CTCF	chr2:112048040-112048190	HMEC	breast:	n/a	n/a
47	CTCF	chr2:112067959-112067996	GM20000	blood:	n/a	n/a
48	CTCF	chr2:112070434-112070492	Medullo	brain:	n/a	n/a
49	CTCF	chr2:112098838-112098880	GM13976	blood:	n/a	n/a
50	CTCF	chr2:112071490-112071520	GM19239	blood:	n/a	n/a

No data

(count:1 , 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:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL2L11-5	chr2:112085950-112086566	NONHSAT073637
2	lnc-BCL2L11-5	chr2:112081976-112082063	l_1923_chr2:112081839-112086268_testes
3	lnc-AC108463.1-3	chr2:112071889-112072139	ENSG00000172965.6
4	lnc-BCL2L11-6	chr2:112080919-112081327	NONHSAT073618
5	lnc-AC108463.1-6	chr2:112053206-112053623	NONHSAT073635
6	lnc-BCL2L11-6	chr2:112060981-112061323	NONHSAT073618
7	lnc-BCL2L11-5	chr2:112081840-112081972	l_1923_chr2:112081839-112086268_testes
8	lnc-BCL2L11-5	chr2:112081889-112082063	NONHSAT073637
9	lnc-BCL2L11-5	chr2:112085950-112086268	l_1923_chr2:112081839-112086268_testes

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

No data

Variant related genes	Relation type
RPS14P4	TF binding region
MIR4435-1	TF binding region
ENSG00000153094	chromatin interactions

Extended variants
information (count: 1360 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1360 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2341098	chr2:112046160-112046161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184480067	chr2:112046167-112046168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1715197	chr2:112046225-112046226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1710449	chr2:112046226-112046227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188844793	chr2:112046251-112046252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192911822	chr2:112046252-112046253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200893231	chr2:112046340-112046341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs908905	chr2:112046351-112046352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs376902823	chr2:112046358-112046359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143992235	chr2:112046410-112046411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184572686	chr2:112046422-112046423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567234166	chr2:112046506-112046507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536376409	chr2:112046529-112046530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550081037	chr2:112046556-112046557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570250222	chr2:112046578-112046579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189507401	chr2:112046601-112046602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538908653	chr2:112046602-112046603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114957241	chr2:112046630-112046631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117820061	chr2:112046634-112046635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147287338	chr2:112046635-112046636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534687702	chr2:112046658-112046659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs932205	chr2:112046691-112046692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554576334	chr2:112046708-112046709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180751824	chr2:112046738-112046739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543916959	chr2:112046739-112046740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186374487	chr2:112046844-112046845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558711979	chr2:112046860-112046861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1812229	chr2:112046870-112046871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs932204	chr2:112046883-112046884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545271527	chr2:112046898-112046899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565168075	chr2:112046899-112046900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575394175	chr2:112046949-112046950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149993822	chr2:112046960-112046961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560963374	chr2:112046982-112046983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529721587	chr2:112046986-112046987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1715195	chr2:112046993-112046994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1519522	chr2:112047056-112047057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111522677	chr2:112047086-112047087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189256125	chr2:112047097-112047098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552392234	chr2:112047101-112047102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs963756	chr2:112047136-112047137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115508383	chr2:112047164-112047165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554636908	chr2:112047165-112047166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574792133	chr2:112047185-112047186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537109387	chr2:112047193-112047194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560318372	chr2:112047261-112047262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368110857	chr2:112047276-112047277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545210196	chr2:112047282-112047283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558816406	chr2:112047305-112047306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572344610	chr2:112047329-112047330	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:250 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112008600-112048600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:112020600-112048000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:112023400-112046400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:112025600-112116600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:112044400-112046600	Weak transcription	Pancreas	Pancrea
6	chr2:112045600-112046200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:112045800-112047600	Weak transcription	NHEK	skin
8	chr2:112046000-112046400	Weak transcription	HMEC	breast
9	chr2:112046200-112046400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:112046400-112046600	Enhancers	HMEC	breast
11	chr2:112046400-112046800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:112046400-112047000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:112046400-112047800	Enhancers	Placenta	Placenta
14	chr2:112046400-112048600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:112046400-112057400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:112046600-112047800	Weak transcription	HMEC	breast
17	chr2:112047000-112047400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr2:112047000-112048400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:112047600-112047800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:112047600-112048800	Enhancers	NHEK	skin
21	chr2:112047800-112048600	Weak transcription	Placenta	Placenta
22	chr2:112047800-112049600	Enhancers	HMEC	breast
23	chr2:112047800-112052400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:112048000-112048800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:112048400-112048600	Enhancers	Pancreas	Pancrea
26	chr2:112048400-112048800	Enhancers	Liver	Liver
27	chr2:112048400-112049000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:112048600-112048800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:112048600-112048800	Enhancers	Placenta	Placenta
30	chr2:112048600-112049400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:112048600-112049600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:112048600-112051000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr2:112048800-112049200	Weak transcription	Liver	Liver
34	chr2:112048800-112049400	Weak transcription	Placenta	Placenta
35	chr2:112048800-112049600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr2:112048800-112049800	Enhancers	HSMMtube	muscle
37	chr2:112048800-112069600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:112049000-112050600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:112049200-112049800	Enhancers	Liver	Liver
40	chr2:112049400-112049600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr2:112049400-112049600	Enhancers	Placenta	Placenta
42	chr2:112049400-112050000	Weak transcription	K562	blood
43	chr2:112049400-112050200	Enhancers	Fetal Intestine Small	intestine
44	chr2:112049400-112051000	Enhancers	HepG2	liver
45	chr2:112049600-112050800	Weak transcription	Placenta	Placenta
46	chr2:112049800-112050200	Enhancers	Stomach Mucosa	stomach
47	chr2:112049800-112051000	Enhancers	Duodenum Mucosa	Duodenum
48	chr2:112049800-112052000	Weak transcription	Liver	Liver
49	chr2:112049800-112059800	Weak transcription	HSMMtube	muscle
50	chr2:112050000-112050200	Enhancers	K562	blood

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