Variant report

Variant	esv3410606
Chromosome Location	chr11:5864676-5866624
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	FOS	chr11:5866203-5866313	MCF10A-Er-Src	breast:	n/a	chr11:5866270-5866279
2	STAT3	chr11:5864872-5864986	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5624501..5627132-chr11:5864110..5866579,2	K562	blood:

Variant related genes	Relation type
OR52E6	TF binding region
ENSG00000121236	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184858764	chr11:5864697-5864698	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs189325616	chr11:5864716-5864717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs60407380	chr11:5864760-5864761	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10742811	chr11:5864768-5864769	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181382301	chr11:5864826-5864827	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10838722	chr11:5864855-5864856	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs61519770	chr11:5864864-5864865	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531215339	chr11:5864877-5864878	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs552631275	chr11:5864888-5864889	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs138077333	chr11:5864920-5864921	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs570993402	chr11:5864955-5864956	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs10838723	chr11:5864985-5864986	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547072911	chr11:5865000-5865001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568556233	chr11:5865015-5865016	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184399968	chr11:5865025-5865026	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557369547	chr11:5865039-5865040	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs139571706	chr11:5865049-5865050	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs189467402	chr11:5865158-5865159	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557789231	chr11:5865199-5865200	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs572947396	chr11:5865206-5865207	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs74868397	chr11:5865232-5865233	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs556043509	chr11:5865243-5865244	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs75990439	chr11:5865244-5865245	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185898823	chr11:5865278-5865279	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs79208095	chr11:5865290-5865291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs67482055	chr11:5865345-5865346	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs191193901	chr11:5865407-5865408	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7927204	chr11:5865408-5865409	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7930270	chr11:5865409-5865410	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181917544	chr11:5865411-5865412	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200578315	chr11:5865413-5865414	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs368033935	chr11:5865415-5865416	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201772946	chr11:5865425-5865426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368749797	chr11:5865433-5865434	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186291563	chr11:5865438-5865439	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375157788	chr11:5865445-5865446	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs56293312	chr11:5865446-5865447	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368445596	chr11:5865448-5865449	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372738875	chr11:5865452-5865453	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs372349819	chr11:5865455-5865456	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375631710	chr11:5865461-5865462	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs367642292	chr11:5865462-5865463	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371838938	chr11:5865463-5865464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376733158	chr11:5865470-5865471	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs7927325	chr11:5865477-5865478	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs377265795	chr11:5865483-5865484	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs71056710	chr11:5865488-5865489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs7930389	chr11:5865489-5865490	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7927330	chr11:5865490-5865491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369202835	chr11:5865508-5865509	Inactive region	Chromatin interactive 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
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Type 2 diabetes	21526130	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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