Variant report

Variant	esv3439351
Chromosome Location	chr1:209404154-209406702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:610)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:209405951-209406029	Fibrobl	skin:	n/a	n/a
2	POLR2A	chr1:209405924-209406029	A549	lung:	n/a	n/a
3	POLR2A	chr1:209406507-209406517	A549	lung:	n/a	n/a
4	POLR2A	chr1:209406533-209406652	A549	lung:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:209406063-209406113	AG04449	skin:	fetal
2	chr1:209406581-209406631	BE2_C	brain:	n/a
3	chr1:209406589-209406639	HAEpiC	amniotic membrane:	n/a
4	chr1:209406589-209406639	SK-N-SH_RA	brain:	n/a
5	chr1:209405050-209405100	NHBE	bronchial:	n/a
6	chr1:209405771-209405821	AoSMC	blood vessel:	n/a
7	chr1:209406581-209406631	HRCEpiC	kidney:	n/a
8	chr1:209406581-209406631	NHBE	bronchial:	n/a
9	chr1:209404846-209404896	SK-N-SH	brain:	n/a
10	chr1:209406589-209406639	GM12891	blood:	n/a
11	chr1:209406266-209406316	MCF-7	breast:	n/a
12	chr1:209404846-209404896	HAEpiC	amniotic membrane:	n/a
13	chr1:209406589-209406639	HepG2	liver:	n/a
14	chr1:209406345-209406395	MCF10A-Er-Src	breast:	n/a
15	chr1:209404846-209404896	BE2_C	brain:	n/a
16	chr1:209405064-209405114	HMEC	breast:	n/a
17	chr1:209406589-209406639	Caco-2	colon:	n/a
18	chr1:209405771-209405821	PFSK-1	brain:	n/a
19	chr1:209406589-209406639	SKMC	muscle:	n/a
20	chr1:209405752-209405802	SAEC	small airway:	n/a
21	chr1:209404846-209404896	BJ	skin:	n/a
22	chr1:209405771-209405821	BJ	skin:	n/a
23	chr1:209406345-209406395	NHBE	bronchial:	n/a
24	chr1:209406581-209406631	SK-N-SH_RA	brain:	n/a
25	chr1:209406063-209406113	BE2_C	brain:	n/a
26	chr1:209405752-209405802	HCF	heart:	n/a
27	chr1:209405752-209405802	GM12891	blood:	n/a
28	chr1:209406581-209406631	HUVEC	blood vessel:	n/a
29	chr1:209406063-209406113	GM12891	blood:	n/a
30	chr1:209406589-209406639	U87	brain:	n/a
31	chr1:209406345-209406395	HEEpiC	esophagus:	n/a
32	chr1:209406345-209406395	AoSMC	blood vessel:	n/a
33	chr1:209404846-209404896	AG10803	skin:	n/a
34	chr1:209405771-209405821	HIPEpiC	eye:	n/a
35	chr1:209406345-209406395	HRPEpiC	eye:	n/a
36	chr1:209405050-209405100	HAEpiC	amniotic membrane:	n/a
37	chr1:209406581-209406631	ovcar-3	ovarian:	n/a
38	chr1:209405771-209405821	U87	brain:	n/a
39	chr1:209404846-209404896	Hela-S3	cervix:	n/a
40	chr1:209405050-209405100	GM06990	blood:	n/a
41	chr1:209405050-209405100	HepG2	liver:	n/a
42	chr1:209406589-209406639	NH-A	brain:	n/a
43	chr1:209406345-209406395	GM12891	blood:	n/a
44	chr1:209405064-209405114	HUVEC	blood vessel:	n/a
45	chr1:209406266-209406316	U87	brain:	n/a
46	chr1:209406063-209406113	NHDF-neo	bronchial:	n/a
47	chr1:209406266-209406316	A549	lung:	n/a
48	chr1:209405064-209405114	PANC-1	pancreas:	n/a
49	chr1:209406589-209406639	MCF-7	breast:	n/a
50	chr1:209405771-209405821	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209403047..209404912-chr1:209429099..209430969,2	K562	blood:
2	chr1:209403276..209405119-chr1:209607404..209609101,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224540	TF binding region
ENSG00000224540	CpG island

Extended variants
information (count: 89 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548511190	chr1:209404228-209404229	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs566645076	chr1:209404344-209404345	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs74864683	chr1:209404424-209404425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534025922	chr1:209404456-209404457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552063111	chr1:209404469-209404470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77033457	chr1:209404472-209404473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537965605	chr1:209404475-209404476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112929135	chr1:209404481-209404482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181153782	chr1:209404540-209404541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73085921	chr1:209404552-209404553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574915074	chr1:209404580-209404581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370474588	chr1:209404633-209404634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554493166	chr1:209404645-209404646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572635954	chr1:209404685-209404686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546408115	chr1:209404757-209404758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78730307	chr1:209404781-209404782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576667963	chr1:209404856-209404857	Flanking Active TSS Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs145122484	chr1:209404895-209404896	Flanking Active TSS Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs6671102	chr1:209404897-209404898	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533270139	chr1:209404919-209404920	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6673758	chr1:209404929-209404930	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547861449	chr1:209404965-209404966	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560424227	chr1:209405002-209405003	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs191491335	chr1:209405159-209405160	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs557666227	chr1:209405170-209405171	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs2970563	chr1:209405200-209405201	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs570322062	chr1:209405258-209405259	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs537604431	chr1:209405264-209405265	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs540135052	chr1:209405282-209405283	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs549911169	chr1:209405315-209405316	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs568207122	chr1:209405335-209405336	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs182116193	chr1:209405339-209405340	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs2266024	chr1:209405397-209405398	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572368244	chr1:209405404-209405405	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs539750568	chr1:209405409-209405410	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs558445329	chr1:209405414-209405415	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs576755758	chr1:209405421-209405422	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs111480671	chr1:209405438-209405439	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs562604352	chr1:209405449-209405450	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs200385648	chr1:209405476-209405477	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs371471195	chr1:209405478-209405479	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs34261358	chr1:209405479-209405480	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs112576298	chr1:209405480-209405481	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs397722453	chr1:209405481-209405482	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs574562273	chr1:209405508-209405509	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs531748341	chr1:209405536-209405537	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs117772783	chr1:209405617-209405618	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs559909308	chr1:209405625-209405626	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs548164781	chr1:209405646-209405647	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs145369358	chr1:209405647-209405648	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	20406844	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209400800-209404800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:209403600-209404400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:209404400-209409000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:209404800-209405000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:209405000-209405400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:209405000-209406400	ZNF genes & repeats	Spleen	Spleen
7	chr1:209405400-209407200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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