Variant report

Variant	nsv981515
Chromosome Location	chr7:66477535-66532313
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	ARID3A	chr7:66508140-66508397	K562	blood:	n/a	n/a
2	ARID3A	chr7:66484751-66485173	K562	blood:	n/a	n/a
3	ATF1	chr7:66508106-66508245	K562	blood:	n/a	n/a
4	ATF1	chr7:66484778-66484952	K562	blood:	n/a	n/a
5	BATF	chr7:66496717-66497017	GM12878	blood:	n/a	n/a
6	BATF	chr7:66496747-66497034	GM12878	blood:	n/a	n/a
7	BCL11A	chr7:66496641-66497020	GM12878	blood:	n/a	n/a
8	BCL11A	chr7:66496681-66496866	GM12878	blood:	n/a	n/a
9	BCL3	chr7:66484654-66485019	GM12878	blood:	n/a	n/a
10	CBX3	chr7:66500313-66500662	K562	blood:	n/a	n/a
11	CBX3	chr7:66529399-66529765	K562	blood:	n/a	n/a
12	CEBPB	chr7:66484862-66485086	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr7:66527951-66528144	IMR90	lung:	n/a	n/a
14	CEBPB	chr7:66483065-66483285	IMR90	lung:	n/a	chr7:66483107-66483118
15	CEBPB	chr7:66532212-66532254	K562	blood:	n/a	n/a
16	CEBPB	chr7:66479221-66479497	HepG2	liver:	n/a	n/a
17	CEBPB	chr7:66479233-66479476	IMR90	lung:	n/a	n/a
18	CEBPB	chr7:66507972-66508567	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr7:66482949-66483224	A549	lung:	n/a	chr7:66483107-66483118
20	CEBPB	chr7:66483013-66483176	K562	blood:	n/a	chr7:66483107-66483118
21	CEBPB	chr7:66506555-66506876	IMR90	lung:	n/a	n/a
22	CEBPB	chr7:66507960-66508562	IMR90	lung:	n/a	n/a
23	CEBPB	chr7:66531951-66532492	IMR90	lung:	n/a	n/a
24	CEBPB	chr7:66479226-66479490	A549	lung:	n/a	n/a
25	CEBPB	chr7:66482960-66483287	HepG2	liver:	n/a	chr7:66483107-66483118
26	CEBPB	chr7:66479225-66479497	K562	blood:	n/a	n/a
27	CEBPB	chr7:66484901-66485101	K562	blood:	n/a	n/a
28	CEBPB	chr7:66532113-66532308	A549	lung:	n/a	n/a
29	CEBPB	chr7:66527961-66528162	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr7:66511773-66511951	HepG2	liver:	n/a	n/a
31	CEBPB	chr7:66484624-66485112	K562	blood:	n/a	n/a
32	CEBPD	chr7:66484677-66485124	K562	blood:	n/a	n/a
33	CREB1	chr7:66531963-66532251	GM12878	blood:	n/a	n/a
34	CREB1	chr7:66532056-66532238	GM12878	blood:	n/a	n/a
35	CTCF	chr7:66505792-66506055	GM10248	blood:	n/a	chr7:66505930-66505946 chr7:66505929-66505947 chr7:66505931-66505952
36	CTCF	chr7:66505786-66506071	HUVEC	blood vessel:	n/a	chr7:66505930-66505946 chr7:66505929-66505947 chr7:66505931-66505952
37	CTCF	chr7:66506040-66506190	HRE	kidney:	n/a	n/a
38	CTCF	chr7:66505540-66505690	HAc	cerebellar:	n/a	n/a
39	CTCF	chr7:66505835-66506231	K562	blood:	n/a	chr7:66505930-66505946 chr7:66505929-66505947 chr7:66505931-66505952
40	CTCF	chr7:66506040-66506190	BE2_C	brain:	n/a	n/a
41	CTCF	chr7:66505800-66505950	GM12873	blood:	n/a	chr7:66505930-66505946 chr7:66505929-66505947
42	CTCF	chr7:66506040-66506190	MCF-7	breast:	n/a	n/a
43	CTCF	chr7:66505780-66505930	GM12866	blood:	n/a	n/a
44	CTCF	chr7:66505735-66506070	K562	blood:	n/a	chr7:66505930-66505946 chr7:66505929-66505947 chr7:66505931-66505952
45	CTCF	chr7:66505829-66506049	GM13977	blood:	n/a	chr7:66505930-66505946 chr7:66505929-66505947 chr7:66505931-66505952
46	CTCF	chr7:66505760-66505910	HMEC	breast:	n/a	n/a
47	CTCF	chr7:66506060-66506210	HMEC	breast:	n/a	n/a
48	CTCF	chr7:66505800-66505950	NHDF-neo	bronchial:	n/a	chr7:66505930-66505946 chr7:66505929-66505947
49	CTCF	chr7:66505580-66505730	GM12865	blood:	n/a	n/a
50	CTCF	chr7:66505800-66505950	HAc	cerebellar:	n/a	chr7:66505930-66505946 chr7:66505929-66505947

No.	Distal block	Cell Line	Cell type
1	chr7:66486194..66489134-chr7:66492643..66494345,2	MCF-7	breast:
2	chr7:66460373..66463092-chr7:66483549..66485094,2	K562	blood:
3	chr7:66508015..66509853-chr7:66521858..66523452,2	K562	blood:
4	chr7:66204310..66206758-chr7:66515145..66517585,2	MCF-7	breast:
5	chr7:66508015..66509853-chr7:66521858..66523452,2	K562	blood:
6	chr7:66486194..66489134-chr7:66492643..66494345,2	MCF-7	breast:
7	chr7:66506194..66508281-chr7:66765871..66767933,2	MCF-7	breast:

Variant related genes	Relation type
TYW1	TF binding region
ENSG00000126524	chromatin interactions
ENSG00000272831	chromatin interactions
ENSG00000154710	chromatin interactions
ENSG00000067601	chromatin interactions
ENSG00000198874	chromatin interactions
ENSG00000106610	chromatin interactions
ENSG00000243335	chromatin interactions

Extended variants
information (count: 2221 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2221 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574368660	chr7:66477567-66477568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542644069	chr7:66477581-66477582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141200779	chr7:66477625-66477626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143303920	chr7:66477664-66477665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199537200	chr7:66477670-66477671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371091400	chr7:66477699-66477700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556037714	chr7:66477710-66477711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530656488	chr7:66477711-66477712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375275587	chr7:66477723-66477724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151273242	chr7:66477770-66477771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575697981	chr7:66477783-66477784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367866316	chr7:66477844-66477845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567250917	chr7:66477858-66477859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180814259	chr7:66477891-66477892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544661095	chr7:66477893-66477894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201945265	chr7:66477899-66477900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529283627	chr7:66477905-66477906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565888547	chr7:66477923-66477924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28697280	chr7:66477940-66477941	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs28502215	chr7:66477943-66477944	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs548818538	chr7:66477947-66477948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140851544	chr7:66477951-66477952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4717342	chr7:66477959-66477960	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs186094157	chr7:66477974-66477975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150142946	chr7:66477977-66477978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528292147	chr7:66477979-66477980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552934459	chr7:66477985-66477986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572708273	chr7:66477994-66477995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191290419	chr7:66478007-66478008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548178897	chr7:66478019-66478020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369528145	chr7:66478031-66478032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568389942	chr7:66478042-66478043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535642821	chr7:66478108-66478109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544036920	chr7:66478112-66478113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530405531	chr7:66478134-66478135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182753342	chr7:66478138-66478139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187365973	chr7:66478166-66478167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80186674	chr7:66478167-66478168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560387673	chr7:66478169-66478170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190670827	chr7:66478176-66478177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202087611	chr7:66478180-66478181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553038831	chr7:66478207-66478208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55674430	chr7:66478208-66478209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56153400	chr7:66478217-66478218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537511556	chr7:66478218-66478219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555778573	chr7:66478246-66478247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs137937118	chr7:66478262-66478263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567810849	chr7:66478266-66478267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55702507	chr7:66478269-66478270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183175077	chr7:66478296-66478297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1415 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66462200-66482600	Weak transcription	Aorta	Aorta
2	chr7:66462400-66478400	Weak transcription	Pancreas	Pancrea
3	chr7:66462400-66479400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:66462400-66482200	Weak transcription	Small Intestine	intestine
5	chr7:66462400-66482600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:66462400-66490000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:66462400-66496000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:66462400-66500200	Weak transcription	Psoas Muscle	Psoas
9	chr7:66462400-66508000	Weak transcription	Stomach Mucosa	stomach
10	chr7:66462600-66479000	Weak transcription	Fetal Brain Female	brain
11	chr7:66462600-66479200	Weak transcription	Fetal Kidney	kidney
12	chr7:66462600-66480600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:66462600-66482800	Weak transcription	NHEK	skin
14	chr7:66462600-66484600	Weak transcription	HUVEC	blood vessel
15	chr7:66462600-66487600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:66462600-66497200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr7:66462800-66494600	Weak transcription	Esophagus	oesophagus
18	chr7:66463000-66487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:66463000-66507800	Weak transcription	Fetal Brain Male	brain
20	chr7:66463200-66482600	Weak transcription	HMEC	breast
21	chr7:66463200-66483000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:66463200-66484800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:66463200-66487400	Weak transcription	NH-A	brain
24	chr7:66463200-66510000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:66464400-66478400	Weak transcription	Spleen	Spleen
26	chr7:66467000-66480600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:66468600-66484400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:66469000-66480600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:66469000-66484400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:66469200-66479800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:66469200-66482800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:66470000-66489000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:66470000-66489000	Strong transcription	Fetal Intestine Small	intestine
34	chr7:66470200-66477800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr7:66470200-66488200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr7:66470200-66488400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:66470200-66488400	Strong transcription	Fetal Stomach	stomach
38	chr7:66470200-66492200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr7:66470400-66478600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:66470400-66484400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:66470400-66488000	Strong transcription	Dnd41	blood
42	chr7:66470400-66489000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr7:66470400-66495200	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr7:66470600-66479000	Strong transcription	Thymus	Thymus
45	chr7:66470600-66481000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:66470600-66485400	Strong transcription	Placenta	Placenta
47	chr7:66470600-66492600	Strong transcription	Liver	Liver
48	chr7:66470600-66494800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr7:66470800-66481200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:66470800-66481600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links