Variant report

Variant	nsv963622
Chromosome Location	chr2:74009937-74011888
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:74011334-74011570	GM12878	blood:	n/a	n/a
2	BATF	chr2:74011141-74011519	GM12878	blood:	n/a	n/a
3	BCL11A	chr2:74011201-74011579	GM12878	blood:	n/a	n/a
4	EBF1	chr2:74011089-74011368	GM12878	blood:	n/a	n/a
5	EBF1	chr2:74011309-74011503	GM12878	blood:	n/a	n/a
6	EBF1	chr2:74011106-74011300	GM12878	blood:	n/a	n/a
7	EP300	chr2:74011089-74011596	GM12878	blood:	n/a	n/a
8	FOS	chr2:74010743-74010860	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr2:74010732-74010941	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr2:74010730-74010950	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr2:74010741-74010932	MCF10A-Er-Src	breast:	n/a	n/a
12	FOSL2	chr2:74010378-74010865	A549	lung:	n/a	chr2:74010778-74010789
13	FOSL2	chr2:74011035-74011538	HepG2	liver:	n/a	chr2:74011302-74011311
14	FOSL2	chr2:74010094-74010934	HepG2	liver:	n/a	chr2:74010778-74010789
15	FOSL2	chr2:74010457-74011032	HepG2	liver:	n/a	chr2:74010778-74010789
16	FOSL2	chr2:74011099-74011599	HepG2	liver:	n/a	chr2:74011302-74011311
17	GATA2	chr2:74011256-74011486	K562	blood:	n/a	n/a
18	HEY1	chr2:74010441-74010908	HepG2	liver:	n/a	n/a
19	HEY1	chr2:74011085-74011554	K562	blood:	n/a	n/a
20	IRF4	chr2:74011725-74012298	GM12878	blood:	n/a	n/a
21	IRF4	chr2:74011087-74011586	GM12878	blood:	n/a	n/a
22	IRF4	chr2:74011089-74011481	GM12878	blood:	n/a	n/a
23	JUND	chr2:74010575-74010877	HepG2	liver:	n/a	chr2:74010779-74010790
24	JUND	chr2:74011343-74011518	HepG2	liver:	n/a	n/a
25	JUND	chr2:74011081-74011507	HepG2	liver:	n/a	chr2:74011302-74011311
26	JUND	chr2:74010496-74010969	HepG2	liver:	n/a	chr2:74010779-74010790
27	JUND	chr2:74010652-74010854	HepG2	liver:	n/a	chr2:74010779-74010790
28	MAFF	chr2:74010769-74010774	HepG2	liver:	n/a	n/a
29	MAX	chr2:74010528-74010863	A549	lung:	n/a	n/a
30	MAX	chr2:74010379-74010877	A549	lung:	n/a	n/a
31	NFIC	chr2:74011589-74011944	GM12878	blood:	n/a	n/a
32	PAX5	chr2:74011023-74011616	GM12878	blood:	n/a	n/a
33	PAX5	chr2:74011247-74011481	GM12878	blood:	n/a	n/a
34	PAX5	chr2:74011098-74011502	GM12878	blood:	n/a	n/a
35	PBX3	chr2:74011692-74012424	GM12878	blood:	n/a	n/a
36	PBX3	chr2:74011278-74011524	GM12878	blood:	n/a	n/a
37	PBX3	chr2:74011156-74011270	GM12878	blood:	n/a	n/a
38	POLR2A	chr2:74010868-74011825	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr2:74011067-74011543	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr2:74010634-74010795	HepG2	liver:	n/a	n/a
41	POLR2A	chr2:74010460-74010764	HCT-116	colon:	n/a	n/a
42	POLR2A	chr2:74010516-74010855	HCT-116	colon:	n/a	n/a
43	POLR2A	chr2:74011085-74011514	H1-hESC	embryonic stem cell:	n/a	n/a
44	POU2F2	chr2:74011757-74011897	GM12878	blood:	n/a	n/a
45	POU2F2	chr2:74011071-74011232	GM12878	blood:	n/a	chr2:74011075-74011090 chr2:74011073-74011088
46	POU2F2	chr2:74011326-74011500	GM12878	blood:	n/a	n/a
47	POU2F2	chr2:74011046-74011643	GM12878	blood:	n/a	chr2:74011075-74011090 chr2:74011073-74011088
48	SIN3AK20	chr2:74011158-74011293	HepG2	liver:	n/a	n/a
49	SIN3AK20	chr2:74011333-74011493	HepG2	liver:	n/a	n/a
50	SIX5	chr2:74011343-74011568	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:74010290-74010340	HMEC	breast:	n/a
2	chr2:74010290-74010340	HRE	kidney:	n/a
3	chr2:74010290-74010340	GM19239	blood:	n/a
4	chr2:74010554-74010604	AG09309	skin:	n/a
5	chr2:74010290-74010340	BE2_C	brain:	n/a
6	chr2:74010554-74010604	AoSMC	blood vessel:	n/a
7	chr2:74010621-74010671	NB4	blood:	n/a
8	chr2:74010554-74010604	T-47D	breast:	n/a
9	chr2:74010554-74010604	HPAEpiC	pulmonary alveolar:	n/a
10	chr2:74010396-74010446	AG09309	skin:	n/a
11	chr2:74010621-74010671	AG04449	skin:	fetal
12	chr2:74010290-74010340	AoSMC	blood vessel:	n/a
13	chr2:74010554-74010604	HAEpiC	amniotic membrane:	n/a
14	chr2:74010396-74010446	ECC-1	luminal epithelium:	n/a
15	chr2:74010396-74010446	NH-A	brain:	n/a
16	chr2:74010396-74010446	HL-60	blood:	n/a
17	chr2:74010396-74010446	HCPEpiC	choroid plexus:	n/a
18	chr2:74010621-74010671	Hepatocyte	liver:	n/a
19	chr2:74010554-74010604	ovcar-3	ovarian:	n/a
20	chr2:74010396-74010446	ProgFib	skin:	n/a
21	chr2:74010396-74010446	AG04450	lung:	fetal
22	chr2:74010621-74010671	HUVEC	blood vessel:	n/a
23	chr2:74010621-74010671	AG10803	skin:	n/a
24	chr2:74010621-74010671	MCF10A-Er-Src	breast:	n/a
25	chr2:74010554-74010604	SK-N-SH_RA	brain:	n/a
26	chr2:74010396-74010446	HIPEpiC	eye:	n/a
27	chr2:74010554-74010604	CMK	blood:	n/a
28	chr2:74010396-74010446	T-47D	breast:	n/a
29	chr2:74010396-74010446	HEK293	kidney:	embryo
30	chr2:74010554-74010604	Jurkat	blood:	n/a
31	chr2:74010396-74010446	HCF	heart:	n/a
32	chr2:74010554-74010604	GM12891	blood:	n/a
33	chr2:74010396-74010446	HNPCEpiC	eye:	n/a
34	chr2:74010396-74010446	HPAEpiC	pulmonary alveolar:	n/a
35	chr2:74010621-74010671	AG09319	gingival:	n/a
36	chr2:74010554-74010604	SK-N-SH	brain:	n/a
37	chr2:74010621-74010671	HEEpiC	esophagus:	n/a
38	chr2:74010396-74010446	CMK	blood:	n/a
39	chr2:74010554-74010604	U87	brain:	n/a
40	chr2:74010290-74010340	SAEC	small airway:	n/a
41	chr2:74010290-74010340	U87	brain:	n/a
42	chr2:74010621-74010671	SK-N-SH	brain:	n/a
43	chr2:74010554-74010604	HepG2	liver:	n/a
44	chr2:74010621-74010671	Caco-2	colon:	n/a
45	chr2:74010554-74010604	AG04450	lung:	fetal
46	chr2:74010290-74010340	AG04450	lung:	fetal
47	chr2:74010621-74010671	NH-A	brain:	n/a
48	chr2:74010621-74010671	NT2-D1	testis:	n/a
49	chr2:74010396-74010446	HRCEpiC	kidney:	n/a
50	chr2:74010290-74010340	GM12892	blood:	n/a

No data

Variant related genes	Relation type
DUSP11	TF binding region
C2orf78	TF binding region
DUSP11	CpG island
C2orf78	CpG island

Extended variants
information (count: 119 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554379008	chr2:74009968-74009969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572693929	chr2:74009971-74009972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145098867	chr2:74009974-74009975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576719478	chr2:74009977-74009978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539702863	chr2:74010014-74010015	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs147591913	chr2:74010016-74010017	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs577297446	chr2:74010019-74010020	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs114853152	chr2:74010022-74010023	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs141916109	chr2:74010026-74010027	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs201572527	chr2:74010048-74010049	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs558429916	chr2:74010051-74010052	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs116641217	chr2:74010056-74010057	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs540591271	chr2:74010065-74010066	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs559106239	chr2:74010066-74010067	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs530396499	chr2:74010125-74010126	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs187107100	chr2:74010138-74010139	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs539264115	chr2:74010141-74010142	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs576757137	chr2:74010154-74010155	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs548635162	chr2:74010155-74010156	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs190420297	chr2:74010165-74010166	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs531055385	chr2:74010193-74010194	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs552805490	chr2:74010207-74010208	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs570916143	chr2:74010220-74010221	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs181559778	chr2:74010227-74010228	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs553383297	chr2:74010243-74010244	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs2685277	chr2:74010265-74010266	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	mRNA abundance
27	rs536540777	chr2:74010290-74010291	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
28	rs185732010	chr2:74010293-74010294	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
29	rs145481924	chr2:74010305-74010306	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
30	rs543174942	chr2:74010306-74010307	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
31	rs556647091	chr2:74010327-74010328	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
32	rs190050800	chr2:74010359-74010360	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs540754309	chr2:74010387-74010388	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs577101243	chr2:74010397-74010398	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
35	rs148898923	chr2:74010405-74010406	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
36	rs529697192	chr2:74010415-74010416	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
37	rs112200759	chr2:74010438-74010439	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
38	rs148024891	chr2:74010443-74010444	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
39	rs531239080	chr2:74010451-74010452	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs142571969	chr2:74010461-74010462	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs182362110	chr2:74010519-74010520	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs185936003	chr2:74010522-74010523	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs546822512	chr2:74010533-74010534	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs568441448	chr2:74010544-74010545	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs535435192	chr2:74010555-74010556	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
46	rs190705912	chr2:74010566-74010567	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
47	rs114036610	chr2:74010577-74010578	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
48	rs536971908	chr2:74010579-74010580	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
49	rs79364027	chr2:74010587-74010588	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
50	rs13006598	chr2:74010592-74010593	Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:50)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74007400-74010400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:74007600-74010000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:74007600-74010000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:74007600-74010000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:74007600-74010000	Weak transcription	Hela-S3	cervix
6	chr2:74007600-74010000	Weak transcription	NHEK	skin
7	chr2:74007600-74010200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:74007800-74010000	Weak transcription	HMEC	breast
9	chr2:74007800-74010200	Weak transcription	A549	lung
10	chr2:74009800-74010000	Enhancers	HepG2	liver
11	chr2:74010000-74010200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:74010000-74010200	Flanking Active TSS	HepG2	liver
13	chr2:74010000-74010400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:74010000-74010600	Enhancers	NHEK	skin
15	chr2:74010000-74010800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:74010000-74010800	Enhancers	Hela-S3	cervix
17	chr2:74010000-74011000	Enhancers	HMEC	breast
18	chr2:74010200-74010400	Enhancers	A549	lung
19	chr2:74010200-74010400	Flanking Bivalent TSS/Enh	HepG2	liver
20	chr2:74010200-74010600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr2:74010200-74010800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:74010400-74010600	Flanking Active TSS	A549	lung
23	chr2:74010400-74010600	Bivalent/Poised TSS	HepG2	liver
24	chr2:74010400-74010800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:74010600-74011000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr2:74010600-74011000	Active TSS	A549	lung
27	chr2:74010600-74011000	Active TSS	HepG2	liver

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