Variant report

Variant	esv3320919
Chromosome Location	chr1:185008329-185013127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:185010103-185010393	K562	blood:	n/a	chr1:185010245-185010256
2	CEBPB	chr1:185010099-185010331	HepG2	liver:	n/a	chr1:185010245-185010256
3	CTCF	chr1:185008291-185008497	K562	blood:	n/a	chr1:185008330-185008346 chr1:185008331-185008352
4	CTCF	chr1:185008308-185008368	K562	blood:	n/a	chr1:185008330-185008346 chr1:185008331-185008352
5	FAM48A	chr1:185009431-185009631	GM12878	blood:	n/a	n/a
6	GATA3	chr1:185010658-185010823	SH-SY5Y	brain:	n/a	chr1:185010748-185010757
7	MYC	chr1:185012686-185012869	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr1:185012320-185012371	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr1:185009472-185009897	SK-N-MC	brain:	n/a	n/a
10	RCOR1	chr1:185013103-185013419	K562	blood:	n/a	n/a
11	ZNF384	chr1:185010197-185010384	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:185012220-185012270	NT2-D1	testis:	n/a
2	chr1:185012220-185012270	HRE	kidney:	n/a
3	chr1:185012220-185012270	HRPEpiC	eye:	n/a
4	chr1:185012220-185012270	HCT-116	colon:	n/a
5	chr1:185012220-185012270	BJ	skin:	n/a
6	chr1:185012220-185012270	GM19239	blood:	n/a
7	chr1:185012220-185012270	HNPCEpiC	eye:	n/a
8	chr1:185012220-185012270	IMR90	lung:	fetal
9	chr1:185012220-185012270	HepG2	liver:	n/a
10	chr1:185012220-185012270	Caco-2	colon:	n/a
11	chr1:185012220-185012270	NH-A	brain:	n/a
12	chr1:185012220-185012270	RPTEC	kidney:	n/a
13	chr1:185012220-185012270	K562	blood:	n/a
14	chr1:185012220-185012270	SAEC	small airway:	n/a
15	chr1:185012220-185012270	SK-N-MC	brain:	n/a
16	chr1:185012220-185012270	NB4	blood:	n/a
17	chr1:185012220-185012270	Hela-S3	cervix:	n/a
18	chr1:185012220-185012270	SK-N-SH	brain:	n/a
19	chr1:185012220-185012270	GM12878	blood:	n/a
20	chr1:185012220-185012270	HRCEpiC	kidney:	n/a
21	chr1:185012220-185012270	Hepatocyte	liver:	n/a
22	chr1:185012220-185012270	T-47D	breast:	n/a
23	chr1:185012220-185012270	U87	brain:	n/a
24	chr1:185012220-185012270	ovcar-3	ovarian:	n/a
25	chr1:185012220-185012270	SK-N-SH_RA	brain:	n/a
26	chr1:185012220-185012270	HCM	heart:	n/a
27	chr1:185012220-185012270	HCPEpiC	choroid plexus:	n/a
28	chr1:185012220-185012270	HUVEC	blood vessel:	n/a
29	chr1:185012220-185012270	AG10803	skin:	n/a
30	chr1:185012220-185012270	ProgFib	skin:	n/a
31	chr1:185012220-185012270	NHBE	bronchial:	n/a
32	chr1:185012220-185012270	ECC-1	luminal epithelium:	n/a
33	chr1:185012220-185012270	AG09319	gingival:	n/a
34	chr1:185012220-185012270	GM06990	blood:	n/a
35	chr1:185012220-185012270	NHDF-neo	bronchial:	n/a
36	chr1:185012220-185012270	HIPEpiC	eye:	n/a
37	chr1:185012220-185012270	AG04450	lung:	fetal
38	chr1:185012220-185012270	AG04449	skin:	fetal
39	chr1:185012220-185012270	SKMC	muscle:	n/a
40	chr1:185012220-185012270	H1-hESC	embryonic stem cell:	embryo
41	chr1:185012220-185012270	GM12891	blood:	n/a
42	chr1:185012220-185012270	PFSK-1	brain:	n/a
43	chr1:185012220-185012270	MCF-7	breast:	n/a
44	chr1:185012220-185012270	GM12892	blood:	n/a
45	chr1:185012220-185012270	HAEpiC	amniotic membrane:	n/a
46	chr1:185012220-185012270	AG09309	skin:	n/a
47	chr1:185012220-185012270	MCF10A-Er-Src	breast:	n/a
48	chr1:185012220-185012270	PANC-1	pancreas:	n/a
49	chr1:185012220-185012270	HL-60	blood:	n/a
50	chr1:185012220-185012270	PrEC	prostate:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:185000396..185004587-chr1:185007338..185010464,3	K562	blood:
2	chr1:185012738..185016714-chr1:185123889..185127545,9	K562	blood:
3	chr1:185010099..185012707-chr1:185046027..185047994,2	K562	blood:
4	chr1:185010943..185013509-chr1:185124566..185127368,2	MCF-7	breast:
5	chr1:185009803..185012714-chr1:185013040..185014804,2	MCF-7	breast:
6	chr1:184941138..184943515-chr1:185012025..185014366,2	K562	blood:
7	chr1:185006708..185009603-chr1:185013387..185015554,2	MCF-7	breast:
8	chr1:185010303..185011857-chr1:185026196..185028630,2	K562	blood:
9	chr1:184983211..184985118-chr1:185007746..185010406,2	K562	blood:
10	chr1:185010844..185012522-chr1:185016130..185018992,2	MCF-7	breast:
11	chr1:185012738..185017820-chr1:185123187..185127311,9	K562	blood:

No data

Variant related genes	Relation type
RNF2	TF binding region
RNF2	CpG island
ENSG00000121486	chromatin interactions
ENSG00000116668	chromatin interactions
ENSG00000121481	chromatin interactions
ENSG00000201312	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574229597	chr1:185008380-185008381	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs146939586	chr1:185008410-185008411	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs147556288	chr1:185008411-185008412	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs115829925	chr1:185008455-185008456	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs140907001	chr1:185008458-185008459	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551016871	chr1:185008477-185008478	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs563067333	chr1:185008507-185008508	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs74996502	chr1:185008514-185008515	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs368402638	chr1:185008544-185008545	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs548552358	chr1:185008583-185008584	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs371832358	chr1:185008675-185008676	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs533505510	chr1:185008693-185008694	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs528369034	chr1:185008770-185008771	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs555677043	chr1:185008785-185008786	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs150164381	chr1:185008805-185008806	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs571314212	chr1:185008824-185008825	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs557035286	chr1:185008847-185008848	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs182361355	chr1:185008877-185008878	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs112225033	chr1:185008902-185008903	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs190914999	chr1:185008930-185008931	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs112417976	chr1:185008973-185008974	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs538073438	chr1:185008981-185008982	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs138623231	chr1:185009072-185009073	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs574021713	chr1:185009088-185009089	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs10797997	chr1:185009090-185009091	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577023343	chr1:185009091-185009092	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs577383943	chr1:185009105-185009106	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs558791494	chr1:185009117-185009118	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs578091335	chr1:185009181-185009182	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs545210096	chr1:185009237-185009238	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs563572699	chr1:185009247-185009248	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs530497259	chr1:185009250-185009251	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs542358871	chr1:185009268-185009269	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs541321423	chr1:185009271-185009272	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs545109582	chr1:185009299-185009300	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs560711735	chr1:185009372-185009373	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs560166481	chr1:185009413-185009414	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs528098530	chr1:185009443-185009444	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs149298573	chr1:185009483-185009484	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs571539519	chr1:185009517-185009518	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs532484328	chr1:185009523-185009524	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs571941364	chr1:185009538-185009539	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs114490126	chr1:185009549-185009550	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs377669231	chr1:185009572-185009573	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs550774647	chr1:185009627-185009628	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs569120870	chr1:185009664-185009665	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs537534042	chr1:185009669-185009670	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs111643621	chr1:185009681-185009682	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs540793104	chr1:185009753-185009754	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs572451140	chr1:185009764-185009765	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185007800-185008400	Enhancers	Fetal Lung	lung
2	chr1:185008000-185008400	Enhancers	Fetal Muscle Leg	muscle
3	chr1:185008000-185008400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:185008400-185009600	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:185008600-185010200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:185008800-185009400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:185009000-185010600	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:185009000-185010600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:185009400-185010200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:185009400-185011000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:185009600-185010200	Enhancers	Fetal Muscle Leg	muscle
12	chr1:185010000-185010600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:185010200-185010400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:185010200-185014000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:185010200-185014000	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:185010400-185010600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:185010400-185010600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:185010600-185011000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:185010600-185013600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:185010600-185014000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:185010600-185014000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:185010600-185014000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:185011000-185014000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:185011000-185014000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:185012000-185012200	Enhancers	HepG2	liver
26	chr1:185012200-185012400	Flanking Active TSS	HepG2	liver
27	chr1:185012200-185014000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:185012400-185013800	Enhancers	HepG2	liver
29	chr1:185012600-185012800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:185012800-185013800	Enhancers	K562	blood
31	chr1:185012800-185014000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:185013000-185013200	Enhancers	Ovary	ovary
33	chr1:185013000-185014000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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