Variant report

Variant	esv3349914
Chromosome Location	chr11:33422176-33426274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:33422567-33422729	HepG2	liver:	n/a	chr11:33422604-33422615
2	CEBPB	chr11:33425244-33425411	IMR90	lung:	n/a	n/a
3	CTCF	chr11:33424314-33424404	GM19239	blood:	n/a	n/a
4	CTCF	chr11:33425055-33425138	GM19239	blood:	n/a	n/a
5	CTCF	chr11:33425015-33425134	MCF-7	breast:	n/a	n/a
6	CTCF	chr11:33423241-33423297	GM13976	blood:	n/a	n/a
7	CTCF	chr11:33424660-33424810	GM12864	blood:	n/a	n/a
8	MYC	chr11:33424762-33424947	MCF-7	breast:	n/a	n/a
9	MYC	chr11:33425063-33425112	MCF-7	breast:	n/a	n/a
10	MYC	chr11:33424975-33424983	MCF-7	breast:	n/a	n/a
11	MYC	chr11:33424786-33425123	MCF-7	breast:	n/a	n/a
12	MYC	chr11:33425067-33425137	MCF-7	breast:	n/a	n/a
13	MYC	chr11:33425055-33425171	HUVEC	blood vessel:	n/a	n/a
14	MYC	chr11:33425000-33425033	MCF-7	breast:	n/a	n/a
15	MYC	chr11:33424980-33425010	MCF-7	breast:	n/a	n/a
16	NFYB	chr11:33423677-33424036	K562	blood:	n/a	n/a
17	NFYB	chr11:33423658-33424017	GM12878	blood:	n/a	n/a
18	NR2C2	chr11:33424736-33425239	GM12878	blood:	n/a	n/a
19	PAX5	chr11:33425838-33426072	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:33424850-33424877	Gliobla	brain:	n/a	n/a
21	RUNX3	chr11:33423623-33424005	GM12878	blood:	n/a	n/a
22	RUNX3	chr11:33423638-33423985	GM12878	blood:	n/a	n/a
23	SUZ12	chr11:33424712-33425223	H1-hESC	embryonic stem cell:	n/a	n/a
24	TBL1XR1	chr11:33423928-33424020	K562	blood:	n/a	n/a
25	ZNF263	chr11:33423641-33423998	HEK293-T-REx	kidney:	n/a	chr11:33423834-33423855

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:33421417..33423758-chr11:33435787..33437817,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIPK3-2	chr11:33424762-33425151	NONHSAT018700

No data

Variant related genes	Relation type
ENSG00000254537	TF binding region

Extended variants
information (count: 183 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12802371	chr11:33422216-33422217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs61175842	chr11:33422246-33422247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144520760	chr11:33422325-33422326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569835657	chr11:33422374-33422375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538848104	chr11:33422393-33422394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552344954	chr11:33422422-33422423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139258867	chr11:33422464-33422465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144103100	chr11:33422499-33422500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78434535	chr11:33422511-33422512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372212625	chr11:33422524-33422525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376796148	chr11:33422525-33422526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535443611	chr11:33422530-33422531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576982474	chr11:33422539-33422540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184828229	chr11:33422540-33422541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74471465	chr11:33422554-33422555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572141609	chr11:33422576-33422577	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs540648783	chr11:33422578-33422579	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs553767549	chr11:33422585-33422586	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs560840329	chr11:33422654-33422655	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs572475780	chr11:33422716-33422717	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs146508368	chr11:33422732-33422733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200748899	chr11:33422734-33422735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557893137	chr11:33422737-33422738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141136989	chr11:33422743-33422744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371731241	chr11:33422747-33422748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35937078	chr11:33422754-33422755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563581164	chr11:33422758-33422759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543071785	chr11:33422805-33422806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532346780	chr11:33422867-33422868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552391300	chr11:33422957-33422958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372360761	chr11:33422969-33422970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555507278	chr11:33423039-33423040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543648630	chr11:33423055-33423056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535145181	chr11:33423111-33423112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76189979	chr11:33423127-33423128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75881635	chr11:33423129-33423130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548412773	chr11:33423149-33423150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574772388	chr11:33423177-33423178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537056836	chr11:33423215-33423216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538220657	chr11:33423218-33423219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12578093	chr11:33423258-33423259	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189647643	chr11:33423266-33423267	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs142235933	chr11:33423341-33423342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553560214	chr11:33423472-33423473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573379865	chr11:33423493-33423494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541086806	chr11:33423512-33423513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560977440	chr11:33423543-33423544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2447524	chr11:33423590-33423591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180680432	chr11:33423611-33423612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563567056	chr11:33423712-33423713	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33413200-33423600	Weak transcription	Brain Germinal Matrix	brain
2	chr11:33413400-33466200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:33413800-33422400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:33414000-33423200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:33415400-33424800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:33415600-33434000	Weak transcription	Fetal Brain Female	brain
7	chr11:33417000-33423400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:33420000-33425000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:33422400-33422600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:33422600-33423000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:33423000-33423800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:33423200-33423800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:33423200-33424000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:33423400-33423800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:33423400-33424000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:33423400-33424000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:33423600-33423800	Enhancers	Brain Germinal Matrix	brain
18	chr11:33423600-33424400	Enhancers	GM12878-XiMat	blood
19	chr11:33423800-33433000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:33423800-33433400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:33423800-33434000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:33424000-33424800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:33424000-33432400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:33424000-33440200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:33424600-33424800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:33424800-33425200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:33424800-33425200	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr11:33424800-33425200	Enhancers	Fetal Brain Male	brain
29	chr11:33424800-33425200	Enhancers	NHDF-Ad	bronchial
30	chr11:33424800-33425600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:33424800-33425600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:33425000-33425200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr11:33425000-33425200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
34	chr11:33425000-33425600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:33425200-33425800	Enhancers	Adipose Nuclei	Adipose
36	chr11:33425200-33426600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:33425200-33426600	Weak transcription	NHDF-Ad	bronchial
38	chr11:33425200-33427400	Weak transcription	Fetal Brain Male	brain
39	chr11:33425200-33427800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:33425600-33426600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:33425600-33427000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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