Variant report

Variant	esv1809389
Chromosome Location	chr11:4968936-4980681
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:305)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:4979504-4979744	HepG2	liver:	n/a	chr11:4979638-4979649
2	E2F4	chr11:4968807-4969062	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr11:4972687-4972856	HUVEC	blood vessel:	n/a	n/a
4	NRF1	chr11:4978726-4978785	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:4971691-4971713	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr11:4970236-4970356	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:4976117-4976238	Gliobla	brain:	n/a	n/a
8	POLR2A	chr11:4972318-4972755	H1-neurons	neurons:	n/a	n/a
9	RFX5	chr11:4973587-4973657	K562	blood:	n/a	n/a
10	RFX5	chr11:4972790-4972792	K562	blood:	n/a	n/a
11	STAT3	chr11:4978312-4978424	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr11:4971311-4971511	MCF10A-Er-Src	breast:	n/a	n/a
13	ZNF384	chr11:4978824-4978886	K562	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4977001-4977051	HL-60	blood:	n/a
2	chr11:4977429-4977479	NB4	blood:	n/a
3	chr11:4977924-4977974	AG04449	skin:	fetal
4	chr11:4977924-4977974	AG09319	gingival:	n/a
5	chr11:4977540-4977590	SKMC	muscle:	n/a
6	chr11:4977429-4977479	HRCEpiC	kidney:	n/a
7	chr11:4977001-4977051	HPAEpiC	pulmonary alveolar:	n/a
8	chr11:4977540-4977590	PrEC	prostate:	n/a
9	chr11:4976263-4976313	H1-hESC	embryonic stem cell:	embryo
10	chr11:4977429-4977479	ECC-1	luminal epithelium:	n/a
11	chr11:4977001-4977051	HepG2	liver:	n/a
12	chr11:4977001-4977051	PrEC	prostate:	n/a
13	chr11:4977540-4977590	HCM	heart:	n/a
14	chr11:4977924-4977974	GM12878	blood:	n/a
15	chr11:4977924-4977974	HAEpiC	amniotic membrane:	n/a
16	chr11:4977001-4977051	ECC-1	luminal epithelium:	n/a
17	chr11:4977429-4977479	MCF10A-Er-Src	breast:	n/a
18	chr11:4977924-4977974	ECC-1	luminal epithelium:	n/a
19	chr11:4977001-4977051	HRPEpiC	eye:	n/a
20	chr11:4977001-4977051	SKMC	muscle:	n/a
21	chr11:4977001-4977051	GM06990	blood:	n/a
22	chr11:4977001-4977051	ovcar-3	ovarian:	n/a
23	chr11:4977001-4977051	HCM	heart:	n/a
24	chr11:4977924-4977974	NB4	blood:	n/a
25	chr11:4977924-4977974	Hela-S3	cervix:	n/a
26	chr11:4977540-4977590	AG04449	skin:	fetal
27	chr11:4976263-4976313	BE2_C	brain:	n/a
28	chr11:4977924-4977974	CMK	blood:	n/a
29	chr11:4977001-4977051	H1-hESC	embryonic stem cell:	embryo
30	chr11:4977001-4977051	RPTEC	kidney:	n/a
31	chr11:4977001-4977051	SK-N-MC	brain:	n/a
32	chr11:4976263-4976313	NHBE	bronchial:	n/a
33	chr11:4977540-4977590	GM06990	blood:	n/a
34	chr11:4977001-4977051	AG04449	skin:	fetal
35	chr11:4977001-4977051	Hepatocyte	liver:	n/a
36	chr11:4977924-4977974	NHDF-neo	bronchial:	n/a
37	chr11:4977924-4977974	HCPEpiC	choroid plexus:	n/a
38	chr11:4977429-4977479	H1-hESC	embryonic stem cell:	embryo
39	chr11:4977429-4977479	GM06990	blood:	n/a
40	chr11:4977924-4977974	SK-N-SH	brain:	n/a
41	chr11:4977540-4977590	H1-hESC	embryonic stem cell:	embryo
42	chr11:4977540-4977590	AG09319	gingival:	n/a
43	chr11:4977540-4977590	HEEpiC	esophagus:	n/a
44	chr11:4977924-4977974	AoSMC	blood vessel:	n/a
45	chr11:4977924-4977974	AG09309	skin:	n/a
46	chr11:4977924-4977974	U87	brain:	n/a
47	chr11:4977924-4977974	HL-60	blood:	n/a
48	chr11:4977540-4977590	K562	blood:	n/a
49	chr11:4976263-4976313	HAEpiC	amniotic membrane:	n/a
50	chr11:4976263-4976313	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4778081-4789138..11:4979189-4988077	K562	blood:
2	11:4789513-4794705..11:4979189-4988077	K562	blood:

No data

Variant related genes	Relation type
OR51A4	TF binding region
OR51A2	TF binding region
OR51A4	CpG island
OR51A2	CpG island
ENSG00000188069	chromatin interactions
ENSG00000167346	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11034839	chr11:4968936-4968937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs564865001	chr11:4968944-4968945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs574875634	chr11:4968954-4968955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs77247381	chr11:4969016-4969017	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs567352445	chr11:4969054-4969055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs192277981	chr11:4970257-4970258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs34349082	chr11:4970311-4970312	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs554899111	chr11:4970356-4970357	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs368071730	chr11:4971321-4971322	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs377394151	chr11:4971328-4971329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs374516119	chr11:4971381-4971382	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs538866613	chr11:4971439-4971440	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs530124167	chr11:4971448-4971449	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs548250283	chr11:4971466-4971467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs11601099	chr11:4971701-4971702	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564061395	chr11:4972322-4972323	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs7479956	chr11:4972337-4972338	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs72860806	chr11:4972385-4972386	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs138449138	chr11:4972390-4972391	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs10837014	chr11:4972421-4972422	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs11034866	chr11:4972428-4972429	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540427766	chr11:4972431-4972432	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs10837015	chr11:4972442-4972443	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10837016	chr11:4972449-4972450	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs35043318	chr11:4972464-4972465	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs34031532	chr11:4972485-4972486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs541946389	chr11:4972499-4972500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs35837167	chr11:4972505-4972506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs530942114	chr11:4972511-4972512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs36015493	chr11:4972514-4972515	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs34323997	chr11:4972536-4972537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs34420987	chr11:4972576-4972577	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs34846098	chr11:4972580-4972581	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs36063555	chr11:4972595-4972596	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs371121750	chr11:4972603-4972604	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs116482473	chr11:4972654-4972655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs538097822	chr11:4972667-4972668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs564771040	chr11:4972717-4972718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs117681854	chr11:4972735-4972736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs11823813	chr11:4972746-4972747	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs112600904	chr11:4972807-4972808	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs562126406	chr11:4972817-4972818	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs369840697	chr11:4972836-4972837	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs542197274	chr11:4977001-4977002	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs117761997	chr11:4977002-4977003	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs560882161	chr11:4977013-4977014	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs10837027	chr11:4977026-4977027	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs552767633	chr11:4977041-4977042	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs369762355	chr11:4977433-4977434	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs563653950	chr11:4977457-4977458	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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