Variant report

Variant	nsv1037222
Chromosome Location	chr11:4961506-4974017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr11:4964325-4964404	K562	blood:	n/a	n/a
2	CTCF	chr11:4968105-4968165	GM13977	blood:	n/a	n/a
3	CTCF	chr11:4968209-4968232	GM13976	blood:	n/a	n/a
4	E2F4	chr11:4968807-4969062	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr11:4972687-4972856	HUVEC	blood vessel:	n/a	n/a
6	MAFK	chr11:4963732-4964011	HepG2	liver:	n/a	n/a
7	MXI1	chr11:4966553-4966586	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:4968696-4968712	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr11:4971691-4971713	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:4970236-4970356	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:4963376-4963576	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr11:4972318-4972755	H1-neurons	neurons:	n/a	n/a
13	RFX5	chr11:4972790-4972792	K562	blood:	n/a	n/a
14	RFX5	chr11:4973587-4973657	K562	blood:	n/a	n/a
15	STAT3	chr11:4971311-4971511	MCF10A-Er-Src	breast:	n/a	n/a
16	ZNF384	chr11:4963238-4963526	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4957178-4961904..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
OR51A4	TF binding region
OR51A3P	TF binding region
ENSG00000132274	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141657567	chr11:4961521-4961522	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs17339295	chr11:4961547-4961548	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs564351432	chr11:4961556-4961557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146205551	chr11:4961581-4961582	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182420952	chr11:4961589-4961590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568776859	chr11:4961609-4961610	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536107026	chr11:4961625-4961626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550942534	chr11:4961635-4961636	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569426806	chr11:4961636-4961637	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561158198	chr11:4961646-4961647	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2596003	chr11:4961692-4961693	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs139928298	chr11:4961736-4961737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs572823415	chr11:4961756-4961757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186537467	chr11:4961757-4961758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554903153	chr11:4961802-4961803	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573644769	chr11:4961819-4961820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs192066351	chr11:4961845-4961846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368117532	chr11:4961867-4961868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562575645	chr11:4961877-4961878	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112326220	chr11:4961887-4961888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2595997	chr11:4963240-4963241	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554052499	chr11:4963270-4963271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs111566078	chr11:4963314-4963315	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201626472	chr11:4963320-4963321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs2442428	chr11:4963340-4963341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs190847594	chr11:4963346-4963347	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs572256108	chr11:4963355-4963356	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs540761119	chr11:4963358-4963359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs555922391	chr11:4963360-4963361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs530858481	chr11:4963420-4963421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs2605299	chr11:4963476-4963477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs574148252	chr11:4963482-4963483	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs544603571	chr11:4963503-4963504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs562694548	chr11:4963507-4963508	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs2605300	chr11:4963791-4963792	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551460158	chr11:4963814-4963815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs368283347	chr11:4963831-4963832	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs188344690	chr11:4963901-4963902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs531261108	chr11:4964003-4964004	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs572363344	chr11:4964327-4964328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs536014430	chr11:4964328-4964329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs542815369	chr11:4964331-4964332	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs375213019	chr11:4964358-4964359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs561141550	chr11:4964367-4964368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs2595994	chr11:4964374-4964375	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs543170556	chr11:4968810-4968811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs535966790	chr11:4968863-4968864	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs560829520	chr11:4968904-4968905	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs386750078	chr11:4968934-4968935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs11034839	chr11:4968936-4968937	Inactive region	TF binding region	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:

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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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