Variant report

Variant	esv1849109
Chromosome Location	chr1:246682368-246685583
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:246685009-246685072	LNCaP	prostate:	n/a	n/a
2	CTCF	chr1:246683706-246683740	GM10266	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246684113-246684163	A549	lung:	n/a
2	chr1:246684329-246684379	NT2-D1	testis:	n/a
3	chr1:246684329-246684379	PrEC	prostate:	n/a
4	chr1:246684113-246684163	AoSMC	blood vessel:	n/a
5	chr1:246684329-246684379	ECC-1	luminal epithelium:	n/a
6	chr1:246684329-246684379	SK-N-MC	brain:	n/a
7	chr1:246684329-246684379	HAEpiC	amniotic membrane:	n/a
8	chr1:246684113-246684163	AG10803	skin:	n/a
9	chr1:246684329-246684379	HCM	heart:	n/a
10	chr1:246684113-246684163	GM19239	blood:	n/a
11	chr1:246684113-246684163	Caco-2	colon:	n/a
12	chr1:246684113-246684163	BE2_C	brain:	n/a
13	chr1:246684329-246684379	Caco-2	colon:	n/a
14	chr1:246684113-246684163	MCF10A-Er-Src	breast:	n/a
15	chr1:246684329-246684379	BE2_C	brain:	n/a
16	chr1:246684113-246684163	ECC-1	luminal epithelium:	n/a
17	chr1:246684329-246684379	HIPEpiC	eye:	n/a
18	chr1:246684113-246684163	HRE	kidney:	n/a
19	chr1:246684329-246684379	NHBE	bronchial:	n/a
20	chr1:246684329-246684379	HCT-116	colon:	n/a
21	chr1:246684329-246684379	GM06990	blood:	n/a
22	chr1:246684113-246684163	MCF-7	breast:	n/a
23	chr1:246684113-246684163	SKMC	muscle:	n/a
24	chr1:246684113-246684163	LNCaP	prostate:	n/a
25	chr1:246684329-246684379	HRCEpiC	kidney:	n/a
26	chr1:246684113-246684163	BJ	skin:	n/a
27	chr1:246684329-246684379	NH-A	brain:	n/a
28	chr1:246684329-246684379	RPTEC	kidney:	n/a
29	chr1:246684329-246684379	HPAEpiC	pulmonary alveolar:	n/a
30	chr1:246684113-246684163	GM12891	blood:	n/a
31	chr1:246684113-246684163	H1-hESC	embryonic stem cell:	embryo
32	chr1:246684329-246684379	AG04450	lung:	fetal
33	chr1:246684113-246684163	SAEC	small airway:	n/a
34	chr1:246684329-246684379	T-47D	breast:	n/a
35	chr1:246684113-246684163	Jurkat	blood:	n/a
36	chr1:246684329-246684379	HepG2	liver:	n/a
37	chr1:246684113-246684163	HepG2	liver:	n/a
38	chr1:246684113-246684163	HCF	heart:	n/a
39	chr1:246684113-246684163	HRCEpiC	kidney:	n/a
40	chr1:246684329-246684379	Hela-S3	cervix:	n/a
41	chr1:246684329-246684379	H1-hESC	embryonic stem cell:	embryo
42	chr1:246684113-246684163	HCPEpiC	choroid plexus:	n/a
43	chr1:246684329-246684379	Hepatocyte	liver:	n/a
44	chr1:246684113-246684163	SK-N-SH_RA	brain:	n/a
45	chr1:246684113-246684163	SK-N-SH	brain:	n/a
46	chr1:246684113-246684163	NB4	blood:	n/a
47	chr1:246684113-246684163	NHBE	bronchial:	n/a
48	chr1:246684329-246684379	SK-N-SH_RA	brain:	n/a
49	chr1:246684329-246684379	Jurkat	blood:	n/a
50	chr1:246684113-246684163	ProgFib	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246679194..246683104-chr1:246689621..246693878,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230813	TF binding region
ENSG00000230813	CpG island
ENSG00000229112	chromatin interactions
ENSG00000230813	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115216658	chr1:246682369-246682370	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs185815140	chr1:246682375-246682376	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs74458188	chr1:246682436-246682437	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs60948053	chr1:246682487-246682488	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532381727	chr1:246682497-246682498	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs368012111	chr1:246682498-246682499	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs192005327	chr1:246682573-246682574	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs537416371	chr1:246682577-246682578	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs548213710	chr1:246682601-246682602	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs542032882	chr1:246682602-246682603	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs10924765	chr1:246682616-246682617	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs74155525	chr1:246682653-246682654	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs61839853	chr1:246682660-246682661	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539045069	chr1:246682708-246682709	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs539252884	chr1:246682734-246682735	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs558745636	chr1:246682738-246682739	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575711627	chr1:246682759-246682760	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs544233637	chr1:246682769-246682770	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs554552140	chr1:246682784-246682785	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs370817836	chr1:246682789-246682790	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs540131688	chr1:246682809-246682810	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs386641730	chr1:246682858-246682859	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs12036210	chr1:246682860-246682861	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs12036214	chr1:246682909-246682910	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562398249	chr1:246682910-246682911	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs531447327	chr1:246682965-246682966	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs548348356	chr1:246682975-246682976	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs568062195	chr1:246682987-246682988	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs75647157	chr1:246683013-246683014	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs547297625	chr1:246683020-246683021	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs116565495	chr1:246683028-246683029	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs145713723	chr1:246683053-246683054	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs559106683	chr1:246683062-246683063	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs569213921	chr1:246683079-246683080	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs555614745	chr1:246685426-246685427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs72760875	chr1:246685440-246685441	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs72760876	chr1:246685482-246685483	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148117683	chr1:246685494-246685495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs369439605	chr1:246685513-246685514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs533619646	chr1:246685518-246685519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs543912451	chr1:246685523-246685524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs141878117	chr1:246685533-246685534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	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
Liposarcoma	21253554	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	19805367	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246680200-246682400	Weak transcription	Right Atrium	heart
2	chr1:246680600-246683000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:246685400-246685600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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