Variant report

Variant	nsv984453
Chromosome Location	chr2:234726749-234740629
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	BCL3	chr2:234739349-234744830	A549	lung:	n/a	chr2:234741660-234741669
2	BCL3	chr2:234739080-234744341	A549	lung:	n/a	chr2:234741660-234741669
3	CEBPB	chr2:234731937-234732232	MCF-7	breast:	n/a	n/a
4	CEBPB	chr2:234731947-234732262	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr2:234731899-234732266	A549	lung:	n/a	n/a
6	CEBPB	chr2:234731812-234732248	A549	lung:	n/a	n/a
7	CEBPB	chr2:234731930-234732212	IMR90	lung:	n/a	n/a
8	CEBPB	chr2:234731924-234732267	HepG2	liver:	n/a	n/a
9	CEBPB	chr2:234731890-234732263	HepG2	liver:	n/a	n/a
10	CTCF	chr2:234731220-234731370	HepG2	liver:	n/a	chr2:234731306-234731315
11	CTCF	chr2:234740000-234740150	BE2_C	brain:	n/a	n/a
12	CTCF	chr2:234726800-234726950	HepG2	liver:	n/a	chr2:234726903-234726921
13	CTCF	chr2:234726874-234726904	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr2:234726860-234727010	HepG2	liver:	n/a	chr2:234726903-234726921
15	CTCF	chr2:234726855-234726952	HepG2	liver:	n/a	chr2:234726903-234726921
16	ELF1	chr2:234740614-234742367	A549	lung:	n/a	n/a
17	EP300	chr2:234740450-234742446	A549	lung:	n/a	n/a
18	GATA1	chr2:234731868-234732373	PBDE	blood:	n/a	n/a
19	HNF4A	chr2:234727023-234727234	HepG2	liver:	n/a	chr2:234727155-234727167 chr2:234727155-234727168 chr2:234727154-234727167 chr2:234727154-234727167 chr2:234727155-234727167 chr2:234727153-234727168 chr2:234727154-234727168 chr2:234727154-234727167 chr2:234727155-234727167 chr2:234727154-234727168 chr2:234727152-234727170 chr2:234727155-234727167 chr2:234727154-234727168
20	HNF4A	chr2:234726930-234727302	HepG2	liver:	n/a	chr2:234727155-234727167 chr2:234727155-234727168 chr2:234727154-234727167 chr2:234727154-234727167 chr2:234727155-234727167 chr2:234727153-234727168 chr2:234727154-234727168 chr2:234727154-234727167 chr2:234727155-234727167 chr2:234727154-234727168 chr2:234727152-234727170 chr2:234727155-234727167 chr2:234727154-234727168
21	JUND	chr2:234740539-234741985	A549	lung:	n/a	n/a
22	JUND	chr2:234739637-234740273	A549	lung:	n/a	n/a
23	MAX	chr2:234739977-234740197	K562	blood:	n/a	chr2:234740005-234740018 chr2:234740007-234740017 chr2:234740006-234740016 chr2:234740006-234740015 chr2:234740007-234740016 chr2:234740006-234740017 chr2:234740169-234740179 chr2:234740006-234740017 chr2:234740005-234740018 chr2:234740006-234740017 chr2:234740005-234740018 chr2:234740007-234740016 chr2:234740005-234740020 chr2:234740005-234740018 chr2:234740006-234740016 chr2:234740007-234740016 chr2:234740007-234740017
24	MAX	chr2:234739332-234743245	A549	lung:	n/a	chr2:234740005-234740018 chr2:234739818-234739828 chr2:234740007-234740017 chr2:234739716-234739727 chr2:234740006-234740016 chr2:234740006-234740015 chr2:234740007-234740016 chr2:234740006-234740017 chr2:234740169-234740179 chr2:234740006-234740017 chr2:234740005-234740018 chr2:234740006-234740017 chr2:234740005-234740018 chr2:234740007-234740016 chr2:234741727-234741737 chr2:234740005-234740020 chr2:234740005-234740018 chr2:234740006-234740016 chr2:234740007-234740016 chr2:234740007-234740017
25	MAX	chr2:234727552-234727681	HepG2	liver:	n/a	n/a
26	MAX	chr2:234732209-234732232	A549	lung:	n/a	n/a
27	MAX	chr2:234731974-234732342	Hela-S3	cervix:	n/a	n/a
28	MAX	chr2:234739881-234740336	NB4	blood:	n/a	chr2:234740005-234740018 chr2:234740007-234740017 chr2:234740006-234740016 chr2:234740006-234740015 chr2:234740007-234740016 chr2:234740006-234740017 chr2:234740169-234740179 chr2:234740006-234740017 chr2:234740005-234740018 chr2:234740006-234740017 chr2:234740005-234740018 chr2:234740007-234740016 chr2:234740005-234740020 chr2:234740005-234740018 chr2:234740006-234740016 chr2:234740007-234740016 chr2:234740007-234740017
29	MAX	chr2:234731967-234732513	A549	lung:	n/a	n/a
30	MAX	chr2:234740553-234742738	A549	lung:	n/a	chr2:234741727-234741737
31	MXI1	chr2:234727144-234727166	HepG2	liver:	n/a	n/a
32	MYC	chr2:234739591-234739784	MCF10A-Er-Src	breast:	n/a	chr2:234739716-234739727
33	MYC	chr2:234732176-234732179	NB4	blood:	n/a	n/a
34	POLR2A	chr2:234740145-234740251	A549	lung:	n/a	n/a
35	POLR2A	chr2:234740214-234740305	HepG2	liver:	n/a	n/a
36	POLR2A	chr2:234739938-234740248	U87	brain:	n/a	n/a
37	POLR2A	chr2:234739843-234740170	A549	lung:	n/a	n/a
38	POLR2A	chr2:234740002-234740063	MCF-7	breast:	n/a	n/a
39	POLR2A	chr2:234740279-234740341	K562	blood:	n/a	n/a
40	POLR2A	chr2:234739843-234740120	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr2:234739275-234739732	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr2:234739559-234740291	A549	lung:	n/a	n/a
43	POLR2A	chr2:234739059-234745738	SK-N-MC	brain:	n/a	n/a
44	POLR2A	chr2:234739903-234740251	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr2:234740620-234740767	A549	lung:	n/a	n/a
46	POLR2A	chr2:234739572-234739831	A549	lung:	n/a	n/a
47	POLR2A	chr2:234739978-234739984	MCF-7	breast:	n/a	n/a
48	POLR2A	chr2:234740268-234740362	A549	lung:	n/a	n/a
49	POLR2A	chr2:234740191-234740284	K562	blood:	n/a	n/a
50	POLR2A	chr2:234740619-234740805	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:234404504..234406876-chr2:234739242..234740869,2	MCF-7	breast:
2	chr2:234388065..234390771-chr2:234740107..234742680,2	MCF-7	breast:
3	chr2:234160919..234163001-chr2:234739570..234741620,2	MCF-7	breast:
4	chr2:234607784..234610773-chr2:234739083..234742311,4	MCF-7	breast:
5	chr2:234599519..234601666-chr2:234740030..234742555,2	MCF-7	breast:
6	chr2:234724458..234728135-chr2:234731506..234734878,3	MCF-7	breast:
7	chr2:234725851..234728012-chr2:234729988..234731598,2	K562	blood:
8	chr2:234614862..234617067-chr2:234739874..234742811,2	MCF-7	breast:
9	chr2:234730421..234733178-chr2:234750778..234754644,3	K562	blood:
10	chr2:234725851..234728012-chr2:234729988..234731598,2	K562	blood:
11	chr2:234738464..234743191-chr2:234754553..234759702,7	K562	blood:
12	chr2:234731393..234733731-chr2:234734895..234737840,2	MCF-7	breast:
13	chr2:234724458..234728135-chr2:234731506..234734878,3	MCF-7	breast:
14	chr2:234716641..234718534-chr2:234725162..234728143,2	MCF-7	breast:

Variant related genes	Relation type
MROH2A	TF binding region
ENSG00000123485	chromatin interactions
ENSG00000185038	chromatin interactions
ENSG00000167165	chromatin interactions
ENSG00000085982	chromatin interactions

Extended variants
information (count: 593 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532856340	chr2:234726770-234726771	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs186106859	chr2:234726771-234726772	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs28946899	chr2:234726789-234726790	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529453595	chr2:234726803-234726804	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs549203825	chr2:234726805-234726806	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs566027044	chr2:234726827-234726828	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs554668475	chr2:234726843-234726844	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs28900685	chr2:234726844-234726845	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs368384159	chr2:234726845-234726846	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs551468333	chr2:234726862-234726863	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs571630210	chr2:234726893-234726894	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs142769104	chr2:234726904-234726905	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs28900686	chr2:234726905-234726906	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs74840034	chr2:234726918-234726919	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs567802660	chr2:234726935-234726936	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs13425899	chr2:234726966-234726967	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs545531407	chr2:234726969-234726970	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs553920847	chr2:234727000-234727001	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs572354810	chr2:234727043-234727044	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs541355018	chr2:234727049-234727050	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs137926604	chr2:234727063-234727064	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs577571906	chr2:234727100-234727101	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs112204594	chr2:234727110-234727111	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs563385929	chr2:234727119-234727120	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs573445875	chr2:234727120-234727121	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs376673080	chr2:234727123-234727124	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs542788573	chr2:234727134-234727135	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs559555630	chr2:234727172-234727173	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs528725433	chr2:234727181-234727182	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs76329185	chr2:234727239-234727240	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs187322478	chr2:234727240-234727241	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs567740595	chr2:234727241-234727242	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs719419	chr2:234727250-234727251	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549168377	chr2:234727282-234727283	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs72970220	chr2:234727287-234727288	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534570183	chr2:234727293-234727294	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs190374093	chr2:234727314-234727315	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs719418	chr2:234727333-234727334	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs11563102	chr2:234727410-234727411	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556564769	chr2:234727426-234727427	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs573384173	chr2:234727444-234727445	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs182968105	chr2:234727471-234727472	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs553851970	chr2:234727472-234727473	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs6759919	chr2:234727478-234727479	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561794685	chr2:234727483-234727484	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs573103453	chr2:234727526-234727527	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs545335895	chr2:234727536-234727537	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs565571462	chr2:234727539-234727540	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs527373311	chr2:234727558-234727559	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs187553500	chr2:234727576-234727577	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Wilms tumour	21544195	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234713200-234731400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:234724400-234727200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:234724800-234727200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:234725000-234727600	Enhancers	Fetal Intestine Large	intestine
5	chr2:234725000-234728000	Enhancers	Fetal Intestine Small	intestine
6	chr2:234725200-234727000	Enhancers	A549	lung
7	chr2:234725200-234727200	Enhancers	Adipose Nuclei	Adipose
8	chr2:234725800-234727600	Bivalent Enhancer	HepG2	liver
9	chr2:234726200-234727000	Enhancers	Duodenum Mucosa	Duodenum
10	chr2:234726200-234728400	Weak transcription	HSMMtube	muscle
11	chr2:234726600-234727400	Weak transcription	Placenta	Placenta
12	chr2:234726600-234727800	Enhancers	Liver	Liver
13	chr2:234726800-234727000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr2:234727000-234727200	Enhancers	Esophagus	oesophagus
15	chr2:234727000-234728600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:234727000-234731400	Weak transcription	A549	lung
17	chr2:234727200-234728600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:234727200-234728800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:234727400-234727600	Enhancers	Placenta	Placenta
20	chr2:234727800-234730000	Weak transcription	Liver	Liver
21	chr2:234728000-234731000	Weak transcription	Fetal Intestine Small	intestine
22	chr2:234728600-234728800	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:234728800-234729000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:234728800-234729000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr2:234728800-234729000	Enhancers	HSMMtube	muscle
26	chr2:234728800-234729600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:234728800-234729600	Bivalent Enhancer	Placenta	Placenta
28	chr2:234729000-234729200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:234729000-234729200	Bivalent Enhancer	Right Ventricle	heart
30	chr2:234730000-234730800	Enhancers	Liver	Liver
31	chr2:234730000-234732200	Enhancers	Duodenum Mucosa	Duodenum
32	chr2:234730800-234732000	Flanking Active TSS	Liver	Liver
33	chr2:234731000-234731800	Enhancers	Fetal Intestine Small	intestine
34	chr2:234731200-234731400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:234731400-234731600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:234731400-234731800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:234731400-234733400	Enhancers	A549	lung
38	chr2:234731600-234732200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:234731800-234732000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr2:234731800-234732200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr2:234731800-234732200	Bivalent Enhancer	HepG2	liver
42	chr2:234731800-234741200	Weak transcription	Fetal Intestine Small	intestine
43	chr2:234732000-234732400	Enhancers	Stomach Mucosa	stomach
44	chr2:234732000-234733400	Enhancers	Liver	Liver
45	chr2:234732000-234741200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr2:234732200-234732400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:234732200-234742000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr2:234732400-234737200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:234733400-234737600	Weak transcription	A549	lung
50	chr2:234733400-234742200	Weak transcription	Liver	Liver

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