Variant report

Variant	esv3422359
Chromosome Location	chr8:121130221-121132419
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:121130920-121130946	MCF-7	breast:	n/a	n/a
2	MAFF	chr8:121130479-121130649	HepG2	liver:	n/a	chr8:121130559-121130577
3	MAFK	chr8:121130568-121130632	IMR90	lung:	n/a	n/a
4	MAFK	chr8:121130538-121130640	HepG2	liver:	n/a	chr8:121130561-121130576
5	MAFK	chr8:121130452-121130644	HepG2	liver:	n/a	chr8:121130561-121130576
6	POLR2A	chr8:121131487-121131501	MCF10A-Er-Src	breast:	n/a	n/a
7	RFX5	chr8:121131469-121131535	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:121132054-121132104	HCPEpiC	choroid plexus:	n/a
2	chr8:121132054-121132104	Jurkat	blood:	n/a
3	chr8:121132054-121132104	ovcar-3	ovarian:	n/a
4	chr8:121132054-121132104	SK-N-SH	brain:	n/a
5	chr8:121132054-121132104	HNPCEpiC	eye:	n/a
6	chr8:121132054-121132104	H1-hESC	embryonic stem cell:	embryo
7	chr8:121132054-121132104	CMK	blood:	n/a
8	chr8:121132054-121132104	T-47D	breast:	n/a
9	chr8:121132054-121132104	NT2-D1	testis:	n/a
10	chr8:121132054-121132104	NB4	blood:	n/a
11	chr8:121132054-121132104	A549	lung:	n/a
12	chr8:121132054-121132104	GM12891	blood:	n/a
13	chr8:121132054-121132104	HMEC	breast:	n/a
14	chr8:121132054-121132104	HRPEpiC	eye:	n/a
15	chr8:121132054-121132104	HPAEpiC	pulmonary alveolar:	n/a
16	chr8:121132054-121132104	BJ	skin:	n/a
17	chr8:121132054-121132104	ECC-1	luminal epithelium:	n/a
18	chr8:121132054-121132104	HepG2	liver:	n/a
19	chr8:121132054-121132104	NHDF-neo	bronchial:	n/a
20	chr8:121132054-121132104	HAEpiC	amniotic membrane:	n/a
21	chr8:121132054-121132104	K562	blood:	n/a
22	chr8:121132054-121132104	HUVEC	blood vessel:	n/a
23	chr8:121132054-121132104	HCM	heart:	n/a
24	chr8:121132054-121132104	NHBE	bronchial:	n/a
25	chr8:121132054-121132104	SAEC	small airway:	n/a
26	chr8:121132054-121132104	U87	brain:	n/a
27	chr8:121132054-121132104	Hela-S3	cervix:	n/a
28	chr8:121132054-121132104	PANC-1	pancreas:	n/a
29	chr8:121132054-121132104	Hepatocyte	liver:	n/a
30	chr8:121132054-121132104	HEK293	kidney:	embryo
31	chr8:121132054-121132104	SK-N-SH_RA	brain:	n/a
32	chr8:121132054-121132104	Caco-2	colon:	n/a
33	chr8:121132054-121132104	BE2_C	brain:	n/a
34	chr8:121132054-121132104	RPTEC	kidney:	n/a
35	chr8:121132054-121132104	HIPEpiC	eye:	n/a
36	chr8:121132054-121132104	AoSMC	blood vessel:	n/a
37	chr8:121132054-121132104	GM12892	blood:	n/a
38	chr8:121132054-121132104	HRE	kidney:	n/a
39	chr8:121132054-121132104	HRCEpiC	kidney:	n/a
40	chr8:121132054-121132104	AG04449	skin:	fetal
41	chr8:121132054-121132104	GM06990	blood:	n/a
42	chr8:121132054-121132104	SK-N-MC	brain:	n/a
43	chr8:121132054-121132104	HEEpiC	esophagus:	n/a
44	chr8:121132054-121132104	AG10803	skin:	n/a
45	chr8:121132054-121132104	PFSK-1	brain:	n/a
46	chr8:121132054-121132104	AG04450	lung:	fetal
47	chr8:121132054-121132104	GM12878	blood:	n/a
48	chr8:121132054-121132104	ProgFib	skin:	n/a
49	chr8:121132054-121132104	LNCaP	prostate:	n/a
50	chr8:121132054-121132104	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121124392..121126636-chr8:121128403..121131371,2	K562	blood:

No data

Variant related genes	Relation type
COL14A1	TF binding region
COL14A1	CpG island

Extended variants
information (count: 112 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116584865	chr8:121130226-121130227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186917167	chr8:121130228-121130229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7827008	chr8:121130281-121130282	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569391378	chr8:121130329-121130330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191816440	chr8:121130444-121130445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551607620	chr8:121130504-121130505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144205406	chr8:121130591-121130592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369876277	chr8:121130647-121130648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535170629	chr8:121130702-121130703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374854481	chr8:121130721-121130722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555632408	chr8:121130739-121130740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553413303	chr8:121130819-121130820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184296796	chr8:121130828-121130829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537833709	chr8:121130835-121130836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4475532	chr8:121130955-121130956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371202519	chr8:121130980-121130981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376693039	chr8:121130981-121130982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546251901	chr8:121130982-121130983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376746422	chr8:121131001-121131002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76127570	chr8:121131003-121131004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370487713	chr8:121131005-121131006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71508491	chr8:121131007-121131008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200683735	chr8:121131009-121131010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368614191	chr8:121131014-121131015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71306863	chr8:121131037-121131038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189117666	chr8:121131039-121131040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528684913	chr8:121131060-121131061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193157315	chr8:121131087-121131088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185402733	chr8:121131096-121131097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190700150	chr8:121131111-121131112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71508492	chr8:121131130-121131131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180765026	chr8:121131150-121131151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185427380	chr8:121131156-121131157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376175339	chr8:121131160-121131161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188621673	chr8:121131164-121131165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181414094	chr8:121131165-121131166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372510226	chr8:121131169-121131170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13248636	chr8:121131176-121131177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13281272	chr8:121131177-121131178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60859418	chr8:121131180-121131181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13281282	chr8:121131183-121131184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13248648	chr8:121131184-121131185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6984057	chr8:121131190-121131191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7001917	chr8:121131191-121131192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13248654	chr8:121131199-121131200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186090632	chr8:121131205-121131206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376519088	chr8:121131209-121131210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370967792	chr8:121131214-121131215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13281308	chr8:121131215-121131216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13248678	chr8:121131216-121131217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121114800-121136000	Weak transcription	Aorta	Aorta
2	chr8:121130000-121130400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:121130000-121131600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:121131600-121132800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:121131800-121132600	Enhancers	Fetal Heart	heart
6	chr8:121131800-121133000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:121132000-121133200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:121132200-121132400	Enhancers	Brain Anterior Caudate	brain
9	chr8:121132200-121132400	Enhancers	NHDF-Ad	bronchial
10	chr8:121132200-121132600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:121132200-121133000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:121132400-121135600	Weak transcription	Brain Anterior Caudate	brain

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