Variant report

Variant	nsv831211
Chromosome Location	chr8:3504660-3660294
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	CEBPB	chr8:3529349-3529646	A549	lung:	n/a	chr8:3529494-3529505
2	CEBPB	chr8:3581072-3581412	A549	lung:	n/a	chr8:3581240-3581251
3	CEBPB	chr8:3517417-3517467	HepG2	liver:	n/a	chr8:3517448-3517457 chr8:3517447-3517458
4	CEBPB	chr8:3581074-3581416	HepG2	liver:	n/a	chr8:3581240-3581251
5	CEBPB	chr8:3563710-3563937	HepG2	liver:	n/a	chr8:3563786-3563797
6	CEBPB	chr8:3529319-3529655	IMR90	lung:	n/a	chr8:3529494-3529505
7	CEBPB	chr8:3637812-3638123	IMR90	lung:	n/a	chr8:3637963-3637976
8	CEBPB	chr8:3648092-3648164	HepG2	liver:	n/a	chr8:3648128-3648141 chr8:3648128-3648139
9	CEBPB	chr8:3564711-3564741	HepG2	liver:	n/a	n/a
10	CEBPB	chr8:3594737-3595003	HepG2	liver:	n/a	chr8:3594897-3594906 chr8:3594897-3594906 chr8:3594897-3594906 chr8:3594896-3594907 chr8:3594895-3594908 chr8:3594897-3594906 chr8:3594895-3594906 chr8:3594895-3594908
11	CEBPB	chr8:3581067-3581340	H1-hESC	embryonic stem cell:	n/a	chr8:3581240-3581251
12	CEBPB	chr8:3558869-3559067	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr8:3541170-3541453	HepG2	liver:	n/a	n/a
14	CEBPB	chr8:3559495-3559575	K562	blood:	n/a	chr8:3559532-3559543
15	CEBPB	chr8:3637934-3638040	K562	blood:	n/a	chr8:3637963-3637976
16	CEBPB	chr8:3518799-3519054	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr8:3581062-3581437	IMR90	lung:	n/a	chr8:3581240-3581251
18	CEBPB	chr8:3541159-3541448	IMR90	lung:	n/a	n/a
19	CEBPB	chr8:3529320-3529625	HepG2	liver:	n/a	chr8:3529494-3529505
20	CEBPB	chr8:3581072-3581427	K562	blood:	n/a	chr8:3581240-3581251
21	CEBPB	chr8:3529350-3529596	K562	blood:	n/a	chr8:3529494-3529505
22	CHD2	chr8:3546808-3546813	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr8:3584840-3584957	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr8:3584780-3584930	GM12864	blood:	n/a	n/a
25	CTCF	chr8:3584664-3584975	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr8:3584780-3584930	BE2_C	brain:	n/a	n/a
27	CTCF	chr8:3622689-3622771	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr8:3584760-3584969	HepG2	liver:	n/a	n/a
29	CTCF	chr8:3596180-3596273	HepG2	liver:	n/a	chr8:3596226-3596244
30	CTCF	chr8:3636040-3636190	HEEpiC	esophagus:	n/a	chr8:3636115-3636133 chr8:3636110-3636131
31	CTCF	chr8:3584760-3584910	Caco-2	colon:	n/a	n/a
32	CTCF	chr8:3584846-3584882	GM19239	blood:	n/a	n/a
33	CTCF	chr8:3584775-3584965	NHEK	skin:	n/a	n/a
34	CTCF	chr8:3636081-3636209	LNCaP	prostate:	n/a	chr8:3636115-3636133 chr8:3636110-3636131
35	CTCF	chr8:3584880-3585030	GM12864	blood:	n/a	n/a
36	CTCF	chr8:3590040-3590190	GM12869	blood:	n/a	n/a
37	CTCF	chr8:3584842-3584878	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr8:3596063-3596307	H1-hESC	embryonic stem cell:	n/a	chr8:3596226-3596244
39	CTCF	chr8:3584820-3584970	K562	blood:	n/a	n/a
40	CTCF	chr8:3584800-3584950	A549	lung:	n/a	n/a
41	CTCF	chr8:3596140-3596290	NB4	blood:	n/a	chr8:3596226-3596244
42	CTCF	chr8:3596079-3596175	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr8:3584800-3584950	HCT-116	colon:	n/a	n/a
44	CTCF	chr8:3533726-3533736	GM20000	blood:	n/a	n/a
45	CTCF	chr8:3596120-3596270	HRE	kidney:	n/a	chr8:3596226-3596244
46	CTCF	chr8:3584800-3584950	GM12867	blood:	n/a	n/a
47	CTCF	chr8:3636064-3636204	MCF-7	breast:	n/a	chr8:3636115-3636133 chr8:3636110-3636131
48	CTCF	chr8:3584764-3584984	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr8:3584820-3584970	HEK293	kidney:	n/a	n/a
50	CTCF	chr8:3584653-3584987	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:21106306..21107017-chr8:3519478..3519998,2	MCF-7	breast:
2	chr8:3609055..3609589-chr8:3648173..3649150,2	MCF-7	breast:
3	chr8:3503109..3505550-chr8:3506422..3509146,2	K562	blood:
4	chr6:109235237..109236122-chr8:3511314..3512158,2	MCF-7	breast:
5	chr12:57145579..57146089-chr8:3611408..3611928,2	Hela-S3	cervix:
6	chr8:3585079..3586753-chr8:3589988..3592650,2	MCF-7	breast:
7	chr8:3503109..3505550-chr8:3506422..3509146,2	K562	blood:
8	chr8:3609055..3609589-chr8:3648173..3649150,2	MCF-7	breast:
9	chr8:3585079..3586753-chr8:3589988..3592650,2	MCF-7	breast:

Variant related genes	Relation type
CSMD1	TF binding region
RNA5SP251	TF binding region
ENSG00000088970	chromatin interactions
ENSG00000025423	chromatin interactions
ENSG00000198056	chromatin interactions

Extended variants
information (count: 7718 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:7718 , 50 per page) page: 1 2 3 4 5 6 7 ... 155

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542505691	chr8:3504662-3504663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78767007	chr8:3504665-3504666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527840454	chr8:3504672-3504673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566525003	chr8:3504685-3504686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576428442	chr8:3504714-3504715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545177892	chr8:3504737-3504738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564562843	chr8:3504743-3504744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189620995	chr8:3504764-3504765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550428896	chr8:3504765-3504766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10102617	chr8:3504768-3504769	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529658945	chr8:3504776-3504777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564943152	chr8:3504779-3504780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548041959	chr8:3504791-3504792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566435286	chr8:3504798-3504799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533890944	chr8:3504819-3504820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550319376	chr8:3504823-3504824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527521707	chr8:3504837-3504838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547572757	chr8:3504847-3504848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77419369	chr8:3504856-3504857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149371832	chr8:3504860-3504861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561460768	chr8:3504867-3504868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570590136	chr8:3504885-3504886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75215605	chr8:3504900-3504901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199873845	chr8:3504908-3504909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75381686	chr8:3504911-3504912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35443523	chr8:3504912-3504913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs5888979	chr8:3504915-3504916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140860159	chr8:3504916-3504917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144590565	chr8:3504917-3504918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140065886	chr8:3504918-3504919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140845820	chr8:3504919-3504920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117747915	chr8:3504928-3504929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199955840	chr8:3504948-3504949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549778107	chr8:3504974-3504975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182304025	chr8:3504983-3504984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542246168	chr8:3504991-3504992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144705224	chr8:3504993-3504994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554254505	chr8:3504998-3504999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12550780	chr8:3517805-3517806	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs570825430	chr8:3517808-3517809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183351654	chr8:3517822-3517823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530703790	chr8:3517854-3517855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188086005	chr8:3517860-3517861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7843378	chr8:3517869-3517870	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs535986575	chr8:3517876-3517877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192665114	chr8:3517877-3517878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7831466	chr8:3517881-3517882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184509221	chr8:3517905-3517906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189045608	chr8:3517913-3517914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192514943	chr8:3517918-3517919	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3503200-3504800	Enhancers	Brain Cingulate Gyrus	brain
2	chr8:3504000-3504800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:3504000-3505000	Enhancers	Fetal Lung	lung
4	chr8:3504200-3504800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:3504400-3504800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:3504400-3504800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:3504400-3504800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr8:3504400-3504800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:3504600-3504800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:3517800-3518200	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:3518200-3519200	Enhancers	Fetal Muscle Leg	muscle
12	chr8:3518400-3518800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:3518400-3519600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr8:3518600-3519000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:3529200-3529400	ZNF genes & repeats	Gastric	stomach
16	chr8:3529200-3530200	Enhancers	Fetal Heart	heart
17	chr8:3530200-3531200	Flanking Active TSS	Fetal Heart	heart
18	chr8:3531200-3532000	Enhancers	Fetal Heart	heart
19	chr8:3532400-3535000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:3535000-3535400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:3542000-3545200	Enhancers	Fetal Heart	heart
22	chr8:3545000-3546200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:3545200-3545400	Enhancers	Pancreas	Pancrea
24	chr8:3545200-3545600	Flanking Active TSS	Fetal Heart	heart
25	chr8:3545200-3545600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr8:3545600-3546000	Enhancers	Fetal Heart	heart
27	chr8:3546000-3547000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:3546200-3549200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:3549200-3549800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:3549200-3549800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr8:3550000-3550200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:3550200-3551800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:3551400-3552400	Enhancers	Fetal Muscle Leg	muscle
34	chr8:3551600-3552400	Enhancers	Fetal Muscle Trunk	muscle
35	chr8:3551800-3552400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:3563200-3569400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:3564400-3565800	Enhancers	Fetal Muscle Leg	muscle
38	chr8:3565800-3566200	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:3566200-3567000	Enhancers	Fetal Muscle Leg	muscle
40	chr8:3569800-3570000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
41	chr8:3575800-3576800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr8:3576000-3576600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:3576000-3576600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:3576000-3577400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr8:3576200-3576600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr8:3576200-3576600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr8:3576200-3576600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr8:3576200-3577000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr8:3576400-3578400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr8:3577400-3577800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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