Variant report

Variant	nsv945277
Chromosome Location	chr1:211377389-211382878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:366)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:211379835-211380167	K562	blood:	n/a	n/a
2	CTCF	chr1:211380868-211380969	GM10248	blood:	n/a	n/a
3	KAP1	chr1:211380038-211380268	K562	blood:	n/a	n/a
4	MAFF	chr1:211380176-211380376	HepG2	liver:	n/a	n/a
5	MAFF	chr1:211377432-211377623	HepG2	liver:	n/a	n/a
6	MAFF	chr1:211380067-211380381	K562	blood:	n/a	n/a
7	MAFK	chr1:211377344-211377531	HepG2	liver:	n/a	chr1:211377457-211377468 chr1:211377456-211377470 chr1:211377458-211377469
8	MAFK	chr1:211377366-211377579	HepG2	liver:	n/a	chr1:211377457-211377468 chr1:211377456-211377470 chr1:211377458-211377469
9	MAFK	chr1:211380123-211380336	K562	blood:	n/a	n/a
10	MAFK	chr1:211380126-211380364	IMR90	lung:	n/a	n/a
11	MAFK	chr1:211377468-211377488	Hela-S3	cervix:	n/a	n/a
12	MAFK	chr1:211380192-211380390	HepG2	liver:	n/a	n/a
13	MAFK	chr1:211380187-211380367	HepG2	liver:	n/a	n/a
14	MYC	chr1:211381221-211381272	MCF-7	breast:	n/a	n/a
15	MYC	chr1:211380381-211380468	MCF-7	breast:	n/a	n/a
16	POLR2A	chr1:211380596-211380603	MCF-7	breast:	n/a	n/a
17	POLR2A	chr1:211380395-211380469	HepG2	liver:	n/a	n/a
18	POLR2A	chr1:211377232-211377556	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr1:211380430-211380609	MCF-7	breast:	n/a	n/a
20	POLR2A	chr1:211380376-211380467	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr1:211380394-211380494	A549	lung:	n/a	n/a
22	POLR2A	chr1:211382535-211382562	HepG2	liver:	n/a	n/a
23	POLR2A	chr1:211381433-211381573	HepG2	liver:	n/a	n/a
24	POLR2A	chr1:211381389-211381607	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr1:211380390-211380507	A549	lung:	n/a	n/a
26	POLR2A	chr1:211381373-211381420	Gliobla	brain:	n/a	n/a
27	POLR2A	chr1:211381125-211381450	MCF-7	breast:	n/a	n/a
28	POLR2A	chr1:211380433-211380554	ProgFib	skin:	n/a	n/a
29	POLR2A	chr1:211382410-211382531	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:211381376-211381409	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr1:211381552-211381599	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr1:211380432-211380590	MCF-7	breast:	n/a	n/a
33	POLR2A	chr1:211380376-211380537	GM12878	blood:	n/a	n/a
34	POLR2A	chr1:211381093-211381210	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:211380371-211380523	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr1:211380589-211380611	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr1:211381441-211381514	Gliobla	brain:	n/a	n/a
38	POLR2A	chr1:211381306-211381483	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:211380373-211380712	MCF-7	breast:	n/a	n/a
40	POLR2A	chr1:211381446-211381529	Hela-S3	cervix:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:211380407-211380457	HPAEpiC	pulmonary alveolar:	n/a
2	chr1:211380782-211380832	HNPCEpiC	eye:	n/a
3	chr1:211380962-211381012	GM06990	blood:	n/a
4	chr1:211380782-211380832	HMEC	breast:	n/a
5	chr1:211380782-211380832	RPTEC	kidney:	n/a
6	chr1:211380782-211380832	IMR90	lung:	fetal
7	chr1:211380782-211380832	HRPEpiC	eye:	n/a
8	chr1:211380782-211380832	MCF10A-Er-Src	breast:	n/a
9	chr1:211380782-211380832	NH-A	brain:	n/a
10	chr1:211380704-211380754	MCF10A-Er-Src	breast:	n/a
11	chr1:211380407-211380457	Hela-S3	cervix:	n/a
12	chr1:211380962-211381012	Caco-2	colon:	n/a
13	chr1:211380962-211381012	HCF	heart:	n/a
14	chr1:211380782-211380832	ECC-1	luminal epithelium:	n/a
15	chr1:211380704-211380754	H1-hESC	embryonic stem cell:	embryo
16	chr1:211377990-211378040	AG10803	skin:	n/a
17	chr1:211377990-211378040	Jurkat	blood:	n/a
18	chr1:211377990-211378040	SK-N-SH_RA	brain:	n/a
19	chr1:211380407-211380457	LNCaP	prostate:	n/a
20	chr1:211380704-211380754	Caco-2	colon:	n/a
21	chr1:211377990-211378040	HRPEpiC	eye:	n/a
22	chr1:211380704-211380754	HIPEpiC	eye:	n/a
23	chr1:211377990-211378040	HepG2	liver:	n/a
24	chr1:211380704-211380754	HCT-116	colon:	n/a
25	chr1:211380782-211380832	HUVEC	blood vessel:	n/a
26	chr1:211377990-211378040	AG09309	skin:	n/a
27	chr1:211377990-211378040	LNCaP	prostate:	n/a
28	chr1:211380704-211380754	HL-60	blood:	n/a
29	chr1:211380653-211380703	Caco-2	colon:	n/a
30	chr1:211380962-211381012	U87	brain:	n/a
31	chr1:211377990-211378040	NHBE	bronchial:	n/a
32	chr1:211380653-211380703	HRE	kidney:	n/a
33	chr1:211380653-211380703	U87	brain:	n/a
34	chr1:211380653-211380703	Jurkat	blood:	n/a
35	chr1:211380962-211381012	IMR90	lung:	fetal
36	chr1:211380407-211380457	RPTEC	kidney:	n/a
37	chr1:211377990-211378040	HIPEpiC	eye:	n/a
38	chr1:211380407-211380457	K562	blood:	n/a
39	chr1:211377990-211378040	NHDF-neo	bronchial:	n/a
40	chr1:211380407-211380457	HEEpiC	esophagus:	n/a
41	chr1:211380653-211380703	T-47D	breast:	n/a
42	chr1:211380407-211380457	HMEC	breast:	n/a
43	chr1:211380704-211380754	T-47D	breast:	n/a
44	chr1:211380782-211380832	MCF-7	breast:	n/a
45	chr1:211380704-211380754	HCF	heart:	n/a
46	chr1:211380407-211380457	HCF	heart:	n/a
47	chr1:211380962-211381012	NHDF-neo	bronchial:	n/a
48	chr1:211380407-211380457	MCF10A-Er-Src	breast:	n/a
49	chr1:211380704-211380754	MCF-7	breast:	n/a
50	chr1:211377990-211378040	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:211376596..211378898-chr1:211381344..211382973,2	K562	blood:
2	chr1:211376596..211378898-chr1:211381344..211382973,2	K562	blood:
3	chr1:211377631..211380147-chr1:211432111..211434053,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226986	TF binding region
ENSG00000226986	CpG island
ENSG00000117625	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539583537	chr1:211377410-211377411	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs551601570	chr1:211377440-211377441	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs569872560	chr1:211377499-211377500	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs537313753	chr1:211377518-211377519	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs35156765	chr1:211377564-211377565	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs77367591	chr1:211377597-211377598	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs138035708	chr1:211377616-211377617	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs535456958	chr1:211377686-211377687	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs57537354	chr1:211377710-211377711	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs572197824	chr1:211377730-211377731	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545938737	chr1:211377754-211377755	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs149509081	chr1:211377791-211377792	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532030122	chr1:211377812-211377813	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552176380	chr1:211377830-211377831	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs143204061	chr1:211377831-211377832	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs116749542	chr1:211377847-211377848	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565621666	chr1:211377901-211377902	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562224429	chr1:211377917-211377918	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12063878	chr1:211377952-211377953	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541018580	chr1:211377961-211377962	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559440320	chr1:211377963-211377964	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533014700	chr1:211377982-211377983	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs551512200	chr1:211377983-211377984	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs148267230	chr1:211377991-211377992	Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs188188258	chr1:211378010-211378011	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs192778164	chr1:211378022-211378023	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs567414256	chr1:211378041-211378042	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs567429792	chr1:211378049-211378050	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534956070	chr1:211378054-211378055	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141821263	chr1:211378102-211378103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs537817598	chr1:211378139-211378140	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs565739232	chr1:211378150-211378151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548370266	chr1:211378182-211378183	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs185253916	chr1:211378211-211378212	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs146188018	chr1:211378253-211378254	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs139054490	chr1:211378273-211378274	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs543640886	chr1:211378292-211378293	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs34766031	chr1:211378316-211378317	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs61848652	chr1:211378347-211378348	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12751735	chr1:211378353-211378354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12730648	chr1:211378359-211378360	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs574248103	chr1:211378459-211378460	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs541751917	chr1:211378472-211378473	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559354658	chr1:211378473-211378474	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557248464	chr1:211378489-211378490	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs3125839	chr1:211378510-211378511	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs373549815	chr1:211378555-211378556	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs139378493	chr1:211378564-211378565	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563213784	chr1:211378583-211378584	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs530661806	chr1:211378602-211378603	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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	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
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211377000-211378000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:211377200-211377800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links