Variant report

Variant	nsv518854
Chromosome Location	chr7:125960953-126051716
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	ATF1	chr7:126019383-126019479	K562	blood:	n/a	n/a
2	BATF	chr7:125970249-125970459	GM12878	blood:	n/a	n/a
3	BHLHE40	chr7:126018785-126018989	GM12878	blood:	n/a	n/a
4	BRCA1	chr7:125970725-125970731	GM12878	blood:	n/a	n/a
5	CEBPB	chr7:126039435-126039635	A549	lung:	n/a	n/a
6	CEBPB	chr7:126024589-126024864	HepG2	liver:	n/a	n/a
7	CEBPB	chr7:126042012-126042340	A549	lung:	n/a	chr7:126042182-126042193
8	CEBPB	chr7:126023220-126023260	A549	lung:	n/a	n/a
9	CEBPB	chr7:126034447-126034803	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr7:126042017-126042357	IMR90	lung:	n/a	chr7:126042182-126042193
11	CEBPB	chr7:125982558-125982859	HepG2	liver:	n/a	chr7:125982678-125982691 chr7:125982679-125982690
12	CEBPB	chr7:126042044-126042349	Hela-S3	cervix:	n/a	chr7:126042182-126042193
13	CEBPB	chr7:126042010-126042361	HepG2	liver:	n/a	chr7:126042182-126042193
14	CEBPB	chr7:126024630-126024852	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr7:126042119-126042350	H1-hESC	embryonic stem cell:	n/a	chr7:126042182-126042193
16	CEBPB	chr7:126035277-126035444	HepG2	liver:	n/a	n/a
17	CEBPB	chr7:126042031-126042354	K562	blood:	n/a	chr7:126042182-126042193
18	CTCF	chr7:126013124-126013197	Medullo	brain:	n/a	chr7:126013174-126013192
19	CTCF	chr7:126018840-126018990	NHLF	lung:	n/a	n/a
20	CTCF	chr7:126013124-126013206	Hela-S3	cervix:	n/a	chr7:126013174-126013192
21	CTCF	chr7:126004434-126004452	GM13977	blood:	n/a	n/a
22	CTCF	chr7:125973840-125973990	Caco-2	colon:	n/a	n/a
23	CTCF	chr7:126013060-126013210	HBMEC	blood vessel:	n/a	chr7:126013174-126013192
24	CTCF	chr7:126013143-126013211	LNCaP	prostate:	n/a	chr7:126013174-126013192
25	CTCF	chr7:126013100-126013250	BE2_C	brain:	n/a	chr7:126013174-126013192
26	CTCF	chr7:126013080-126013230	BE2_C	brain:	n/a	chr7:126013174-126013192
27	CTCF	chr7:125966790-125966860	GM10266	blood:	n/a	n/a
28	CUX1	chr7:126033759-126033888	GM12878	blood:	n/a	n/a
29	E2F4	chr7:126018161-126018175	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr7:125981963-125982035	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr7:126034449-126034732	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr7:126024619-126024819	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr7:125982672-125982879	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr7:126038398-126038698	MCF10A-Er-Src	breast:	n/a	n/a
35	ELK1	chr7:126029632-126029642	GM12878	blood:	n/a	n/a
36	EP300	chr7:126040117-126040461	SK-N-SH_RA	brain:	n/a	chr7:126040190-126040200
37	EP300	chr7:125989299-125989338	GM12878	blood:	n/a	n/a
38	EP300	chr7:125981931-125981939	K562	blood:	n/a	n/a
39	EP300	chr7:125979800-125980269	SK-N-SH_RA	brain:	n/a	n/a
40	EP300	chr7:126018812-126018976	GM12878	blood:	n/a	chr7:126018823-126018837
41	EP300	chr7:126034457-126034685	Hela-S3	cervix:	n/a	chr7:126034602-126034611
42	EP300	chr7:125979059-125981729	SK-N-SH	brain:	n/a	n/a
43	EP300	chr7:125979779-125980227	SK-N-SH_RA	brain:	n/a	n/a
44	EP300	chr7:126043068-126043356	SK-N-SH_RA	brain:	n/a	n/a
45	FAM48A	chr7:126021655-126021855	GM12878	blood:	n/a	n/a
46	FOS	chr7:125982566-125982932	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr7:125967842-125968081	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr7:126024511-126024887	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr7:126034325-126034803	MCF10A-Er-Src	breast:	n/a	chr7:126034602-126034612 chr7:126034599-126034610 chr7:126034466-126034475 chr7:126034604-126034611 chr7:126034603-126034611
50	FOS	chr7:126034394-126034850	MCF10A-Er-Src	breast:	n/a	chr7:126034602-126034612 chr7:126034599-126034610 chr7:126034466-126034475 chr7:126034604-126034611 chr7:126034603-126034611

No.	Distal block	Cell Line	Cell type
1	chr7:125981506..125983615-chr7:125985975..125988885,2	K562	blood:
2	chr7:126028745..126031381-chr7:126035464..126037060,2	K562	blood:
3	chr7:125961680..125963760-chr7:125965307..125968021,2	K562	blood:
4	chr7:125970152..125973009-chr7:125974819..125977190,2	K562	blood:
5	chr7:125990319..125992216-chr7:125992809..125995290,2	K562	blood:
6	chr7:125990319..125992216-chr7:125992809..125995290,2	K562	blood:
7	chr7:125970152..125973009-chr7:125974819..125977190,2	K562	blood:
8	chr7:126028745..126031381-chr7:126035464..126037060,2	K562	blood:
9	chr7:126028745..126031381-chr7:126035464..126038065,3	K562	blood:
10	chr7:125961680..125963760-chr7:125965307..125968021,2	K562	blood:
11	chr7:125981506..125983615-chr7:125985975..125988885,2	K562	blood:
12	chr7:125970925..125973009-chr7:125973551..125976319,2	K562	blood:
13	chr7:126028745..126031381-chr7:126035464..126038065,3	K562	blood:
14	chr7:125970925..125973009-chr7:125973551..125976319,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARF5-4	chr7:126019024-126019055	XLOC_006236

Variant related genes	Relation type
ENSG00000241921	TF binding region

Extended variants
information (count: 440 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:440 , 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	rs187708745	chr7:125963804-125963805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535106330	chr7:125963842-125963843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141017713	chr7:125963854-125963855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564564309	chr7:125963896-125963897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28660037	chr7:125963901-125963902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535611693	chr7:125963944-125963945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192639736	chr7:125963965-125963966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575865881	chr7:125963975-125963976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183465181	chr7:125963976-125963977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558516626	chr7:125963982-125963983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367700785	chr7:125963986-125963987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77183140	chr7:125966419-125966420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572810072	chr7:125966438-125966439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533703677	chr7:125966466-125966467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10257013	chr7:125966512-125966513	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs139470306	chr7:125966516-125966517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544625833	chr7:125966524-125966525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181853872	chr7:125966547-125966548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568582668	chr7:125966554-125966555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186978900	chr7:125966581-125966582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113254435	chr7:125966601-125966602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112721760	chr7:125966605-125966606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115042165	chr7:125966613-125966614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191755655	chr7:125966652-125966653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144509197	chr7:125966672-125966673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564343084	chr7:125966759-125966760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531897117	chr7:125966772-125966773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550591338	chr7:125966780-125966781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34894698	chr7:125966792-125966793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562346960	chr7:125966802-125966803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111601267	chr7:125966821-125966822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551076154	chr7:125966855-125966856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543535092	chr7:125966865-125966866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370447819	chr7:125966890-125966891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548748777	chr7:125966891-125966892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183145570	chr7:125966909-125966910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537744451	chr7:125966911-125966912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556380119	chr7:125966914-125966915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563835195	chr7:125966952-125966953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577969974	chr7:125966965-125966966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567313386	chr7:125967007-125967008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186370463	chr7:125967010-125967011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148773988	chr7:125967024-125967025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572550485	chr7:125967044-125967045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543279576	chr7:125967083-125967084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113453165	chr7:125967155-125967156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535564554	chr7:125967167-125967168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543768013	chr7:125967171-125967172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs151294648	chr7:125967177-125967178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141277166	chr7:125967230-125967231	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125963800-125964000	Enhancers	Left Ventricle	heart
2	chr7:125966400-125967600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:125967000-125967400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:125999200-125999600	Enhancers	Pancreas	Pancrea
5	chr7:126001200-126001600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:126009800-126010800	ZNF genes & repeats	GM12878-XiMat	blood
7	chr7:126016600-126017200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:126017000-126017400	Enhancers	Adipose Nuclei	Adipose
9	chr7:126017600-126018000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:126018400-126020000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr7:126018600-126019000	Flanking Active TSS	GM12878-XiMat	blood
12	chr7:126038400-126039400	Enhancers	HSMMtube	muscle
13	chr7:126038800-126039600	Enhancers	Fetal Heart	heart
14	chr7:126039000-126039800	Enhancers	GM12878-XiMat	blood
15	chr7:126040800-126041600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:126041600-126042800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:126042800-126043600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:126050200-126050400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr7:126051000-126051600	Active TSS	A549	lung
20	chr7:126051200-126051600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:126051200-126051600	Active TSS	Duodenum Mucosa	Duodenum
22	chr7:126051200-126051800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr7:126051400-126051600	Active TSS	GM12878-XiMat	blood
24	chr7:126051400-126051600	Enhancers	Hela-S3	cervix
25	chr7:126051400-126052000	Active TSS	Brain Angular Gyrus	brain
26	chr7:126051600-126052000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:126051600-126052200	Flanking Active TSS	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links