Variant report

Variant	nsv582292
Chromosome Location	chr2:78824001-78857870
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	E2F4	chr2:78842608-78842808	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr2:78853696-78853697	K562	blood:	n/a	n/a
3	FOS	chr2:78845753-78845791	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr2:78845725-78845861	MCF10A-Er-Src	breast:	n/a	n/a
5	GATA3	chr2:78836275-78836448	SH-SY5Y	brain:	n/a	n/a
6	JUN	chr2:78829414-78829498	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUN	chr2:78841950-78842215	HepG2	liver:	n/a	chr2:78842083-78842096
8	JUND	chr2:78841908-78842270	HepG2	liver:	n/a	n/a
9	MAFF	chr2:78830012-78830329	HepG2	liver:	n/a	chr2:78830168-78830186
10	MAFF	chr2:78834065-78834315	K562	blood:	n/a	n/a
11	MAFF	chr2:78834053-78834394	HepG2	liver:	n/a	n/a
12	MAFF	chr2:78830070-78830334	K562	blood:	n/a	chr2:78830168-78830186
13	MAFK	chr2:78830041-78830333	HepG2	liver:	n/a	chr2:78830170-78830186 chr2:78830170-78830185 chr2:78830169-78830183 chr2:78830170-78830181 chr2:78830171-78830182 chr2:78830170-78830181
14	MAFK	chr2:78834019-78834389	HepG2	liver:	n/a	n/a
15	MAFK	chr2:78827064-78827237	HepG2	liver:	n/a	chr2:78827143-78827154 chr2:78827138-78827154
16	MAFK	chr2:78854906-78854924	HepG2	liver:	n/a	n/a
17	MAFK	chr2:78852109-78852338	HepG2	liver:	n/a	chr2:78852186-78852197 chr2:78852186-78852202 chr2:78852185-78852199 chr2:78852186-78852201 chr2:78852186-78852197
18	MAFK	chr2:78852111-78852277	HepG2	liver:	n/a	chr2:78852186-78852197 chr2:78852186-78852202 chr2:78852185-78852199 chr2:78852186-78852201 chr2:78852186-78852197
19	MAFK	chr2:78834316-78834331	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAFK	chr2:78832406-78832658	HepG2	liver:	n/a	n/a
21	MAFK	chr2:78856944-78857206	HepG2	liver:	n/a	n/a
22	MAFK	chr2:78830042-78830312	IMR90	lung:	n/a	chr2:78830170-78830186 chr2:78830170-78830185 chr2:78830169-78830183 chr2:78830170-78830181 chr2:78830171-78830182 chr2:78830170-78830181
23	MAFK	chr2:78834139-78834205	K562	blood:	n/a	n/a
24	MAFK	chr2:78830000-78830358	HepG2	liver:	n/a	chr2:78830170-78830186 chr2:78830170-78830185 chr2:78830169-78830183 chr2:78830170-78830181 chr2:78830171-78830182 chr2:78830170-78830181
25	MAFK	chr2:78834057-78834379	HepG2	liver:	n/a	n/a
26	MAZ	chr2:78856078-78856104	HepG2	liver:	n/a	n/a
27	MAZ	chr2:78840328-78840369	HepG2	liver:	n/a	n/a
28	MAZ	chr2:78825263-78825300	HepG2	liver:	n/a	n/a
29	NFYB	chr2:78831643-78831960	GM12878	blood:	n/a	n/a
30	NRF1	chr2:78826773-78826774	GM12878	blood:	n/a	n/a
31	POLR2A	chr2:78826177-78826524	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr2:78828829-78829029	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr2:78836801-78836809	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr2:78839695-78839895	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr2:78828818-78828837	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr2:78841549-78841799	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr2:78842739-78842773	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr2:78824096-78824258	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr2:78827827-78828142	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr2:78841606-78841661	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr2:78855437-78855687	MCF10A-Er-Src	breast:	n/a	n/a
42	USF2	chr2:78829963-78830147	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:78828832..78831056-chr2:78839903..78841751,2	K562	blood:
2	chr2:78805460..78806996-chr2:78842740..78844663,2	K562	blood:
3	chr2:78815181..78817318-chr2:78826193..78827770,2	K562	blood:
4	chr2:78828832..78831056-chr2:78839903..78841751,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REG3G-1	chr2:78825037-78825069	ENSG00000234877
2	lnc-REG1B-4	chr2:78825037-78825062	XLOC_002175
3	lnc-REG1B-4	chr2:78826188-78826532	XLOC_002175
4	lnc-REG3G-1	chr2:78826195-78826532	ENSG00000234877

Variant related genes	Relation type
ENSG00000234877	TF binding region

Extended variants
information (count: 444 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368356534	chr2:78824101-78824102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs559923180	chr2:78824115-78824116	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs183343606	chr2:78824155-78824156	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs539003307	chr2:78824176-78824177	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs78257554	chr2:78824257-78824258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs373484005	chr2:78825041-78825042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs117927011	chr2:78826192-78826193	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs189515392	chr2:78826214-78826215	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs1717554	chr2:78826234-78826235	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539950514	chr2:78826240-78826241	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs559782519	chr2:78826248-78826249	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs528905683	chr2:78826290-78826291	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs539935993	chr2:78826307-78826308	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs1519624	chr2:78826406-78826407	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531549885	chr2:78826412-78826413	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs115250183	chr2:78826447-78826448	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs565074595	chr2:78826485-78826486	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs527440234	chr2:78826514-78826515	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs2280502	chr2:78826524-78826525	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs567625955	chr2:78826536-78826537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375810188	chr2:78826538-78826539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536727398	chr2:78826575-78826576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142502823	chr2:78826628-78826629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570021688	chr2:78826654-78826655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538952033	chr2:78826697-78826698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558786990	chr2:78826719-78826720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572321622	chr2:78826731-78826732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560391481	chr2:78826801-78826802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35735650	chr2:78826821-78826822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534861934	chr2:78826840-78826841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1521499	chr2:78826847-78826848	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs573691537	chr2:78826902-78826903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542699548	chr2:78826932-78826933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562392448	chr2:78826943-78826944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181739684	chr2:78826949-78826950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545965056	chr2:78826956-78826957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545329380	chr2:78826959-78826960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188792706	chr2:78832449-78832450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115269463	chr2:78832486-78832487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577632299	chr2:78832494-78832495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192575471	chr2:78832553-78832554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563742173	chr2:78832567-78832568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532726568	chr2:78832581-78832582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546887525	chr2:78832634-78832635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566625431	chr2:78832745-78832746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545074423	chr2:78832751-78832752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138751828	chr2:78832767-78832768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569070088	chr2:78832768-78832769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1915703	chr2:78832777-78832778	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs551861518	chr2:78832831-78832832	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78826200-78827000	Enhancers	Colon Smooth Muscle	Colon
2	chr2:78832400-78833200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:78832400-78834600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:78833000-78833200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:78833200-78833800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:78833600-78834800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:78833800-78834400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:78834000-78834400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:78834000-78834400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:78835800-78836200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr2:78836600-78836800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:78844000-78849200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:78849200-78849600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:78849200-78849800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:78849200-78850000	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links