Variant report

Variant	nsv876019
Chromosome Location	chr2:234724225-234737045
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	CEBPB	chr2:234731812-234732248	A549	lung:	n/a	n/a
2	CEBPB	chr2:234731937-234732232	MCF-7	breast:	n/a	n/a
3	CEBPB	chr2:234731947-234732262	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr2:234731890-234732263	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:234731924-234732267	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:234731899-234732266	A549	lung:	n/a	n/a
7	CEBPB	chr2:234731930-234732212	IMR90	lung:	n/a	n/a
8	CTCF	chr2:234725060-234725210	BE2_C	brain:	n/a	n/a
9	CTCF	chr2:234726860-234727010	HepG2	liver:	n/a	chr2:234726903-234726921
10	CTCF	chr2:234726874-234726904	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr2:234726800-234726950	HepG2	liver:	n/a	chr2:234726903-234726921
12	CTCF	chr2:234726855-234726952	HepG2	liver:	n/a	chr2:234726903-234726921
13	CTCF	chr2:234731220-234731370	HepG2	liver:	n/a	chr2:234731306-234731315
14	EP300	chr2:234724976-234725340	SK-N-SH_RA	brain:	n/a	n/a
15	EP300	chr2:234724782-234725602	SK-N-SH	brain:	n/a	n/a
16	EP300	chr2:234724988-234725338	SK-N-SH_RA	brain:	n/a	n/a
17	GATA1	chr2:234731868-234732373	PBDE	blood:	n/a	n/a
18	GATA3	chr2:234724448-234725017	SK-N-SH	brain:	n/a	n/a
19	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
20	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
21	MAX	chr2:234731974-234732342	Hela-S3	cervix:	n/a	n/a
22	MAX	chr2:234731967-234732513	A549	lung:	n/a	n/a
23	MAX	chr2:234727552-234727681	HepG2	liver:	n/a	n/a
24	MAX	chr2:234732209-234732232	A549	lung:	n/a	n/a
25	MXI1	chr2:234727144-234727166	HepG2	liver:	n/a	n/a
26	MYC	chr2:234732176-234732179	NB4	blood:	n/a	n/a
27	POLR2A	chr2:234732145-234732311	A549	lung:	n/a	n/a
28	RCOR1	chr2:234727065-234727231	HepG2	liver:	n/a	n/a
29	SETDB1	chr2:234724853-234725247	U2OS	brain:	n/a	n/a
30	STAT3	chr2:234728982-234729124	MCF10A-Er-Src	breast:	n/a	n/a
31	ZNF143	chr2:234733093-234733293	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234726683-234726733	BJ	skin:	n/a
2	chr2:234726683-234726733	NT2-D1	testis:	n/a
3	chr2:234726683-234726733	HRE	kidney:	n/a
4	chr2:234726683-234726733	HRPEpiC	eye:	n/a
5	chr2:234726683-234726733	BE2_C	brain:	n/a
6	chr2:234726683-234726733	HL-60	blood:	n/a
7	chr2:234726683-234726733	GM19239	blood:	n/a
8	chr2:234726683-234726733	NH-A	brain:	n/a
9	chr2:234726683-234726733	SK-N-SH	brain:	n/a
10	chr2:234726683-234726733	ProgFib	skin:	n/a
11	chr2:234726683-234726733	HCPEpiC	choroid plexus:	n/a
12	chr2:234726683-234726733	CMK	blood:	n/a
13	chr2:234726683-234726733	HCT-116	colon:	n/a
14	chr2:234726683-234726733	HAEpiC	amniotic membrane:	n/a
15	chr2:234726683-234726733	NHBE	bronchial:	n/a
16	chr2:234726683-234726733	RPTEC	kidney:	n/a
17	chr2:234726683-234726733	HNPCEpiC	eye:	n/a
18	chr2:234726683-234726733	NHDF-neo	bronchial:	n/a
19	chr2:234726683-234726733	HPAEpiC	pulmonary alveolar:	n/a
20	chr2:234726683-234726733	Jurkat	blood:	n/a
21	chr2:234726683-234726733	SAEC	small airway:	n/a
22	chr2:234726683-234726733	PFSK-1	brain:	n/a
23	chr2:234726683-234726733	SKMC	muscle:	n/a
24	chr2:234726683-234726733	A549	lung:	n/a
25	chr2:234726683-234726733	HEEpiC	esophagus:	n/a
26	chr2:234726683-234726733	HCM	heart:	n/a
27	chr2:234726683-234726733	AG09319	gingival:	n/a
28	chr2:234726683-234726733	LNCaP	prostate:	n/a
29	chr2:234726683-234726733	AG10803	skin:	n/a
30	chr2:234726683-234726733	AG04450	lung:	fetal
31	chr2:234726683-234726733	U87	brain:	n/a
32	chr2:234726683-234726733	AG04449	skin:	fetal
33	chr2:234726683-234726733	MCF-7	breast:	n/a
34	chr2:234726683-234726733	GM12891	blood:	n/a
35	chr2:234726683-234726733	HIPEpiC	eye:	n/a
36	chr2:234726683-234726733	ovcar-3	ovarian:	n/a
37	chr2:234726683-234726733	K562	blood:	n/a
38	chr2:234726683-234726733	HCF	heart:	n/a
39	chr2:234726683-234726733	HepG2	liver:	n/a
40	chr2:234726683-234726733	HMEC	breast:	n/a
41	chr2:234726683-234726733	Hela-S3	cervix:	n/a
42	chr2:234726683-234726733	SK-N-MC	brain:	n/a
43	chr2:234726683-234726733	GM12878	blood:	n/a
44	chr2:234726683-234726733	GM06990	blood:	n/a
45	chr2:234726683-234726733	T-47D	breast:	n/a
46	chr2:234726683-234726733	AG09309	skin:	n/a
47	chr2:234726683-234726733	IMR90	lung:	fetal
48	chr2:234726683-234726733	Hepatocyte	liver:	n/a
49	chr2:234726683-234726733	NB4	blood:	n/a
50	chr2:234726683-234726733	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:234716641..234718534-chr2:234725162..234728143,2	MCF-7	breast:
2	chr2:234731393..234733731-chr2:234734895..234737840,2	MCF-7	breast:
3	chr2:234724458..234728135-chr2:234731506..234734878,3	MCF-7	breast:
4	chr2:234725851..234728012-chr2:234729988..234731598,2	K562	blood:
5	chr2:234725851..234728012-chr2:234729988..234731598,2	K562	blood:
6	chr2:234730421..234733178-chr2:234750778..234754644,3	K562	blood:
7	chr2:234724458..234728135-chr2:234731506..234734878,3	MCF-7	breast:

Variant related genes	Relation type
MROH2A	TF binding region
MROH2A	CpG island
ENSG00000185038	chromatin interactions
ENSG00000123485	chromatin interactions

Extended variants
information (count: 559 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:559 , 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	rs13001408	chr2:234724225-234724226	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529794150	chr2:234724233-234724234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115871533	chr2:234724254-234724255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28900970	chr2:234724255-234724256	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184368411	chr2:234724286-234724287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554514238	chr2:234724295-234724296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553119856	chr2:234724315-234724316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546173520	chr2:234724350-234724351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562767031	chr2:234724351-234724352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532034429	chr2:234724404-234724405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59903323	chr2:234724435-234724436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs398061193	chr2:234724440-234724441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553639625	chr2:234724488-234724489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs397728575	chr2:234724492-234724493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs57030311	chr2:234724507-234724508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs5839494	chr2:234724509-234724510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28948393	chr2:234724510-234724511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11689445	chr2:234724535-234724536	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560705782	chr2:234724560-234724561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529850962	chr2:234724577-234724578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546431005	chr2:234724644-234724645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189692848	chr2:234724704-234724705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150580933	chr2:234724705-234724706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552137275	chr2:234724743-234724744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568773841	chr2:234724748-234724749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537917356	chr2:234724771-234724772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28900971	chr2:234724779-234724780	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568628220	chr2:234724832-234724833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534380206	chr2:234724836-234724837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28900972	chr2:234724942-234724943	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs577589313	chr2:234724983-234724984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546212026	chr2:234724987-234724988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567862036	chr2:234724997-234724998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181435136	chr2:234725006-234725007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576364480	chr2:234725018-234725019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542271505	chr2:234725057-234725058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571879294	chr2:234725114-234725115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561839994	chr2:234725161-234725162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527828105	chr2:234725188-234725189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545594704	chr2:234725218-234725219	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs540017229	chr2:234725223-234725224	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs536801097	chr2:234725238-234725239	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs559951535	chr2:234725258-234725259	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs186082362	chr2:234725272-234725273	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs552208247	chr2:234725277-234725278	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs28900679	chr2:234725318-234725319	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531216328	chr2:234725321-234725322	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs548208543	chr2:234725343-234725344	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs28900680	chr2:234725349-234725350	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533899581	chr2:234725394-234725395	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234713200-234731400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:234723600-234726200	Enhancers	HSMMtube	muscle
3	chr2:234723800-234724800	Weak transcription	Fetal Brain Male	brain
4	chr2:234724400-234727200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:234724800-234726600	Enhancers	Fetal Brain Male	brain
6	chr2:234724800-234727200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:234725000-234727600	Enhancers	Fetal Intestine Large	intestine
8	chr2:234725000-234728000	Enhancers	Fetal Intestine Small	intestine
9	chr2:234725200-234725600	Bivalent Enhancer	Placenta	Placenta
10	chr2:234725200-234725800	Enhancers	HSMM	muscle
11	chr2:234725200-234726600	Enhancers	Fetal Muscle Trunk	muscle
12	chr2:234725200-234727000	Enhancers	A549	lung
13	chr2:234725200-234727200	Enhancers	Adipose Nuclei	Adipose
14	chr2:234725400-234726400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:234725600-234726200	Enhancers	Fetal Lung	lung
16	chr2:234725600-234726600	Enhancers	Placenta	Placenta
17	chr2:234725800-234727600	Bivalent Enhancer	HepG2	liver
18	chr2:234726200-234727000	Enhancers	Duodenum Mucosa	Duodenum
19	chr2:234726200-234728400	Weak transcription	HSMMtube	muscle
20	chr2:234726600-234727400	Weak transcription	Placenta	Placenta
21	chr2:234726600-234727800	Enhancers	Liver	Liver
22	chr2:234726800-234727000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr2:234727000-234727200	Enhancers	Esophagus	oesophagus
24	chr2:234727000-234728600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:234727000-234731400	Weak transcription	A549	lung
26	chr2:234727200-234728600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:234727200-234728800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:234727400-234727600	Enhancers	Placenta	Placenta
29	chr2:234727800-234730000	Weak transcription	Liver	Liver
30	chr2:234728000-234731000	Weak transcription	Fetal Intestine Small	intestine
31	chr2:234728600-234728800	Enhancers	Duodenum Mucosa	Duodenum
32	chr2:234728800-234729000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:234728800-234729000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr2:234728800-234729000	Enhancers	HSMMtube	muscle
35	chr2:234728800-234729600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:234728800-234729600	Bivalent Enhancer	Placenta	Placenta
37	chr2:234729000-234729200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:234729000-234729200	Bivalent Enhancer	Right Ventricle	heart
39	chr2:234730000-234730800	Enhancers	Liver	Liver
40	chr2:234730000-234732200	Enhancers	Duodenum Mucosa	Duodenum
41	chr2:234730800-234732000	Flanking Active TSS	Liver	Liver
42	chr2:234731000-234731800	Enhancers	Fetal Intestine Small	intestine
43	chr2:234731200-234731400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:234731400-234731600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:234731400-234731800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:234731400-234733400	Enhancers	A549	lung
47	chr2:234731600-234732200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:234731800-234732000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr2:234731800-234732200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr2:234731800-234732200	Bivalent Enhancer	HepG2	liver

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