Variant report

Variant	nsv431879
Chromosome Location	chr2:189079494-189118494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:182)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:182 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:189099668-189099897	K562	blood:	n/a	n/a
2	ATF2	chr2:189099990-189100484	GM12878	blood:	n/a	n/a
3	ATF2	chr2:189099939-189100456	GM12878	blood:	n/a	n/a
4	BACH1	chr2:189088909-189088918	K562	blood:	n/a	n/a
5	BACH1	chr2:189108498-189108516	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr2:189099746-189099956	GM12878	blood:	n/a	n/a
7	BATF	chr2:189100009-189100448	GM12878	blood:	n/a	n/a
8	BATF	chr2:189100069-189100410	GM12878	blood:	n/a	n/a
9	BCL11A	chr2:189100070-189100392	GM12878	blood:	n/a	n/a
10	BCL11A	chr2:189099991-189100472	GM12878	blood:	n/a	n/a
11	BCLAF1	chr2:189099954-189100415	GM12878	blood:	n/a	n/a
12	BHLHE40	chr2:189100093-189100420	GM12878	blood:	n/a	n/a
13	CBX3	chr2:189099666-189099957	K562	blood:	n/a	n/a
14	CBX3	chr2:189103114-189103425	K562	blood:	n/a	n/a
15	CBX3	chr2:189103120-189103460	K562	blood:	n/a	n/a
16	CEBPB	chr2:189083800-189084019	A549	lung:	n/a	chr2:189083905-189083918 chr2:189083906-189083917
17	CEBPB	chr2:189107716-189107798	A549	lung:	n/a	chr2:189107762-189107773
18	CEBPB	chr2:189083797-189084003	Hela-S3	cervix:	n/a	chr2:189083905-189083918 chr2:189083906-189083917
19	CEBPB	chr2:189099602-189099802	K562	blood:	n/a	n/a
20	CEBPB	chr2:189114514-189114723	IMR90	lung:	n/a	chr2:189114582-189114593
21	CEBPB	chr2:189114411-189114758	HepG2	liver:	n/a	chr2:189114582-189114593
22	CEBPB	chr2:189114484-189114690	K562	blood:	n/a	chr2:189114582-189114593
23	CEBPB	chr2:189107625-189107870	HepG2	liver:	n/a	chr2:189107762-189107773
24	CEBPB	chr2:189083822-189084017	K562	blood:	n/a	chr2:189083905-189083918 chr2:189083906-189083917
25	CEBPB	chr2:189083784-189084039	IMR90	lung:	n/a	chr2:189083905-189083918 chr2:189083906-189083917
26	CEBPB	chr2:189083759-189084093	HepG2	liver:	n/a	chr2:189083905-189083918 chr2:189083906-189083917
27	CHD1	chr2:189100195-189100411	GM12878	blood:	n/a	n/a
28	CHD2	chr2:189087490-189087571	GM12878	blood:	n/a	n/a
29	CHD2	chr2:189099777-189100452	GM12878	blood:	n/a	n/a
30	CHD2	chr2:189111823-189112177	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr2:189093080-189093230	HepG2	liver:	n/a	n/a
32	CTCF	chr2:189095000-189095150	HepG2	liver:	n/a	n/a
33	CTCF	chr2:189089115-189089169	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr2:189089113-189089116	Medullo	brain:	n/a	n/a
35	CTCF	chr2:189111977-189112015	Lung_OC	lung:	n/a	n/a
36	CTCF	chr2:189089009-189089243	H1-hESC	embryonic stem cell:	n/a	n/a
37	CUX1	chr2:189100177-189100234	GM12878	blood:	n/a	n/a
38	E2F4	chr2:189080006-189080229	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr2:189109226-189109426	MCF10A-Er-Src	breast:	n/a	n/a
40	EBF1	chr2:189100077-189100439	GM12878	blood:	n/a	n/a
41	EBF1	chr2:189098472-189098640	GM12878	blood:	n/a	n/a
42	EBF1	chr2:189099356-189099375	GM12878	blood:	n/a	n/a
43	EBF1	chr2:189100063-189100428	GM12878	blood:	n/a	n/a
44	EGR1	chr2:189086800-189086998	K562	blood:	n/a	n/a
45	EP300	chr2:189100075-189100310	GM12878	blood:	n/a	n/a
46	EP300	chr2:189100025-189100475	GM12878	blood:	n/a	n/a
47	EP300	chr2:189107749-189108663	SK-N-SH	brain:	n/a	n/a
48	EP300	chr2:189079893-189080874	SK-N-SH	brain:	n/a	n/a
49	EP300	chr2:189100036-189100720	GM12878	blood:	n/a	n/a
50	EP300	chr2:189100074-189100342	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:189114573-189114623	A549	lung:	n/a
2	chr2:189114573-189114623	NHBE	bronchial:	n/a
3	chr2:189114573-189114623	AG04450	lung:	fetal
4	chr2:189114573-189114623	SAEC	small airway:	n/a
5	chr2:189114573-189114623	HCT-116	colon:	n/a
6	chr2:189114573-189114623	PFSK-1	brain:	n/a
7	chr2:189114573-189114623	HepG2	liver:	n/a
8	chr2:189114573-189114623	GM06990	blood:	n/a
9	chr2:189114573-189114623	CMK	blood:	n/a
10	chr2:189114573-189114623	H1-hESC	embryonic stem cell:	embryo
11	chr2:189114573-189114623	Jurkat	blood:	n/a
12	chr2:189114573-189114623	Hela-S3	cervix:	n/a
13	chr2:189114573-189114623	Caco-2	colon:	n/a
14	chr2:189114573-189114623	GM12892	blood:	n/a
15	chr2:189114573-189114623	MCF-7	breast:	n/a
16	chr2:189114573-189114623	AoSMC	blood vessel:	n/a
17	chr2:189114573-189114623	HNPCEpiC	eye:	n/a
18	chr2:189114573-189114623	BE2_C	brain:	n/a
19	chr2:189114573-189114623	HRPEpiC	eye:	n/a
20	chr2:189114573-189114623	HEK293	kidney:	embryo
21	chr2:189114573-189114623	SKMC	muscle:	n/a
22	chr2:189114573-189114623	HRCEpiC	kidney:	n/a
23	chr2:189114573-189114623	GM12878	blood:	n/a
24	chr2:189114573-189114623	K562	blood:	n/a
25	chr2:189114573-189114623	ECC-1	luminal epithelium:	n/a
26	chr2:189114573-189114623	HCM	heart:	n/a
27	chr2:189114573-189114623	NH-A	brain:	n/a
28	chr2:189114573-189114623	U87	brain:	n/a
29	chr2:189114573-189114623	HL-60	blood:	n/a
30	chr2:189114573-189114623	HRE	kidney:	n/a
31	chr2:189114573-189114623	HPAEpiC	pulmonary alveolar:	n/a
32	chr2:189114573-189114623	ProgFib	skin:	n/a
33	chr2:189114573-189114623	PrEC	prostate:	n/a
34	chr2:189114573-189114623	HEEpiC	esophagus:	n/a
35	chr2:189114573-189114623	PANC-1	pancreas:	n/a
36	chr2:189114573-189114623	MCF10A-Er-Src	breast:	n/a
37	chr2:189114573-189114623	HUVEC	blood vessel:	n/a
38	chr2:189114573-189114623	HIPEpiC	eye:	n/a
39	chr2:189114573-189114623	RPTEC	kidney:	n/a
40	chr2:189114573-189114623	HMEC	breast:	n/a
41	chr2:189114573-189114623	AG10803	skin:	n/a
42	chr2:189114573-189114623	SK-N-SH_RA	brain:	n/a
43	chr2:189114573-189114623	HCPEpiC	choroid plexus:	n/a
44	chr2:189114573-189114623	IMR90	lung:	fetal
45	chr2:189114573-189114623	T-47D	breast:	n/a
46	chr2:189114573-189114623	GM12891	blood:	n/a
47	chr2:189114573-189114623	GM19239	blood:	n/a
48	chr2:189114573-189114623	BJ	skin:	n/a
49	chr2:189114573-189114623	LNCaP	prostate:	n/a
50	chr2:189114573-189114623	NHDF-neo	bronchial:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:189111332..189114158-chr2:189116062..189118762,3	K562	blood:
2	chr2:189111332..189114158-chr2:189116062..189118762,3	K562	blood:
3	chr2:189116827..189120729-chr2:189123718..189126978,3	K562	blood:
4	chr2:189066882..189068892-chr2:189106481..189108837,2	K562	blood:
5	chr2:189114368..189116842-chr2:189156394..189158749,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIRC1-2	chr2:189092547-189093259	ENSG00000231689
2	lnc-DIRC1-2	chr2:189102834-189102981	NONHSAT076027
3	lnc-DIRC1-2	chr2:189091078-189093262	NONHSAT076027

No data

Variant related genes	Relation type
ENSG00000213115	TF binding region
ENSG00000213115	CpG island
ENSG00000144366	chromatin interactions

Extended variants
information (count: 1138 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1138 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529538988	chr2:189081821-189081822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556041198	chr2:189081822-189081823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543830368	chr2:189081826-189081827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562127188	chr2:189081827-189081828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189214148	chr2:189081906-189081907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527284984	chr2:189081970-189081971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62179626	chr2:189082000-189082001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74362262	chr2:189082002-189082003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368911886	chr2:189082004-189082005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71020736	chr2:189082021-189082022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs193107538	chr2:189082069-189082070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561802800	chr2:189082116-189082117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566552111	chr2:189082147-189082148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199954880	chr2:189082296-189082297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527521744	chr2:189082327-189082328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185092383	chr2:189082390-189082391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189148213	chr2:189082402-189082403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191654077	chr2:189082457-189082458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184288736	chr2:189082542-189082543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188191301	chr2:189082552-189082553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539945204	chr2:189082589-189082590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558194259	chr2:189082773-189082774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573245676	chr2:189082811-189082812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143843643	chr2:189082827-189082828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1898986	chr2:189082839-189082840	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs574026313	chr2:189082844-189082845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181060153	chr2:189082854-189082855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146360457	chr2:189082864-189082865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577171294	chr2:189082887-189082888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544786243	chr2:189082968-189082969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116716015	chr2:189082987-189082988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527374584	chr2:189082988-189082989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549196620	chr2:189083045-189083046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377046817	chr2:189083069-189083070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78733329	chr2:189083092-189083093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186000615	chr2:189083102-189083103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550055234	chr2:189083107-189083108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190456158	chr2:189083108-189083109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539859627	chr2:189083118-189083119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76807727	chr2:189083143-189083144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12464904	chr2:189083145-189083146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369007575	chr2:189083183-189083184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555941930	chr2:189083189-189083190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76036238	chr2:189084054-189084055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113819371	chr2:189084062-189084063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556317787	chr2:189084129-189084130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577951901	chr2:189084147-189084148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537384178	chr2:189084219-189084220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538930587	chr2:189084240-189084241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7572031	chr2:189084241-189084242	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189081800-189082200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr2:189082200-189082600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:189082600-189083200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr2:189084000-189085200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:189084400-189084800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:189084400-189085000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:189088800-189089400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:189090400-189096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:189096600-189097000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:189097000-189101600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:189099400-189100200	Enhancers	GM12878-XiMat	blood
12	chr2:189099800-189100400	Enhancers	K562	blood
13	chr2:189100200-189100600	Flanking Active TSS	GM12878-XiMat	blood
14	chr2:189100400-189121200	Weak transcription	K562	blood
15	chr2:189100600-189101000	Enhancers	GM12878-XiMat	blood
16	chr2:189101600-189101800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:189103600-189104000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr2:189104200-189105400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:189105400-189106400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:189108200-189108600	Enhancers	Placenta	Placenta
21	chr2:189108400-189110000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:189108400-189110600	Enhancers	HMEC	breast
23	chr2:189108800-189109400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:189109200-189109400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:189109200-189109400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:189109400-189110000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:189109400-189111400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:189109800-189111600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:189110000-189110200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:189110200-189115800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:189110800-189111000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:189111000-189115200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:189111400-189112400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:189111600-189112400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:189112400-189114000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:189112400-189114200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:189114200-189114800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:189114200-189116000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:189114400-189114600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:189114800-189115800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:189115200-189115400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:189115400-189116000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:189115400-189116000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr2:189115800-189116000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr2:189115800-189116200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:189115800-189116200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:189115800-189116200	Enhancers	Placenta	Placenta
48	chr2:189116000-189116200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:189116200-189118800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links