Variant report

Variant	esv3370687
Chromosome Location	chr2:11052551-11055049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11045162..11047241-chr2:11052527..11054468,2	K562	blood:
2	chr2:11052090..11054765-chr2:11077274..11080049,2	K562	blood:
3	chr2:11054478..11056999-chr2:11265255..11267127,2	MCF-7	breast:
4	chr2:11054479..11055033-chr2:11168295..11169158,2	MCF-7	breast:
5	chr2:10977377..10978983-chr2:11051588..11054422,2	MCF-7	breast:
6	chr2:11054784..11057728-chr2:11061728..11064590,3	MCF-7	breast:
7	chr2:11040441..11043101-chr2:11053459..11055088,2	MCF-7	breast:
8	chr2:11053991..11056052-chr2:11065201..11067671,2	MCF-7	breast:
9	chr2:11055046..11056818-chr2:11058961..11061152,2	MCF-7	breast:
10	chr2:11053891..11056006-chr2:11074074..11075819,2	MCF-7	breast:
11	chr2:10975612..10976184-chr2:11054131..11054669,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143870	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550642036	chr2:11052589-11052590	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs147760531	chr2:11052630-11052631	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201712383	chr2:11052639-11052640	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs199875738	chr2:11052656-11052657	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146949759	chr2:11052660-11052661	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532816858	chr2:11052693-11052694	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545635060	chr2:11052701-11052702	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141961283	chr2:11052703-11052704	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566398442	chr2:11052711-11052712	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370503620	chr2:11052724-11052725	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs199646402	chr2:11052741-11052742	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375600263	chr2:11052768-11052769	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs193920977	chr2:11052800-11052801	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138975329	chr2:11052852-11052853	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs199752745	chr2:11052867-11052868	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs151111224	chr2:11052924-11052925	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201047040	chr2:11052941-11052942	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146303502	chr2:11052942-11052943	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs142872443	chr2:11053006-11053007	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368995113	chr2:11053008-11053009	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs373432598	chr2:11053011-11053012	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs3732104	chr2:11053020-11053021	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531489171	chr2:11053080-11053081	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537683504	chr2:11053097-11053098	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374798024	chr2:11053107-11053108	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141118481	chr2:11053113-11053114	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs147777200	chr2:11053201-11053202	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs141086439	chr2:11053275-11053276	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs34752664	chr2:11053306-11053307	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs199507399	chr2:11053329-11053330	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs114664009	chr2:11053353-11053354	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs560494220	chr2:11053368-11053369	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371877225	chr2:11053412-11053413	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs202046685	chr2:11053416-11053417	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs367858044	chr2:11053422-11053423	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559871658	chr2:11053443-11053444	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs145867221	chr2:11053494-11053495	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201163636	chr2:11053538-11053539	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs1046004	chr2:11053619-11053620	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs1046005	chr2:11053699-11053700	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs200755867	chr2:11053713-11053714	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs3732105	chr2:11053740-11053741	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs372097411	chr2:11053804-11053805	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201734044	chr2:11053812-11053813	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs144040411	chr2:11053815-11053816	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562576257	chr2:11053818-11053819	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs61741190	chr2:11053830-11053831	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs139764455	chr2:11053860-11053861	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs377006729	chr2:11053866-11053867	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369851909	chr2:11053875-11053876	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11051200-11052800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
2	chr2:11051200-11054000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
3	chr2:11051200-11054600	Bivalent Enhancer	Placenta	Placenta
4	chr2:11051400-11052600	Bivalent Enhancer	Fetal Thymus	thymus
5	chr2:11051400-11052800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr2:11051400-11052800	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr2:11051400-11053000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:11051400-11053000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr2:11051400-11053000	Bivalent Enhancer	Fetal Lung	lung
10	chr2:11051600-11052600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr2:11051600-11052600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:11051600-11052600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:11051600-11052800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:11051600-11052800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr2:11051600-11052800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:11051600-11052800	Bivalent/Poised TSS	Fetal Kidney	kidney
17	chr2:11051600-11052800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
18	chr2:11051600-11052800	Bivalent/Poised TSS	HSMM	muscle
19	chr2:11051600-11052800	Bivalent/Poised TSS	NH-A	brain
20	chr2:11051600-11053000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr2:11051600-11053000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr2:11051600-11053600	Bivalent Enhancer	Fetal Brain Male	brain
23	chr2:11051600-11054600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr2:11051600-11056200	Active TSS	Brain Angular Gyrus	brain
25	chr2:11051800-11052600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr2:11051800-11052600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:11051800-11052600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:11051800-11052600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:11051800-11052600	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr2:11051800-11052600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
31	chr2:11051800-11052600	Bivalent/Poised TSS	Psoas Muscle	Psoas
32	chr2:11051800-11052600	Active TSS	Right Ventricle	heart
33	chr2:11051800-11052600	Flanking Bivalent TSS/Enh	Thymus	Thymus
34	chr2:11051800-11052800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:11051800-11052800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
36	chr2:11051800-11052800	Active TSS	Right Atrium	heart
37	chr2:11051800-11052800	Bivalent/Poised TSS	HSMMtube	muscle
38	chr2:11051800-11052800	Bivalent/Poised TSS	NHLF	lung
39	chr2:11051800-11053000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr2:11051800-11053000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
41	chr2:11051800-11053000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr2:11051800-11053000	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr2:11051800-11053600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:11052000-11052600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:11052000-11052600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:11052000-11052600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:11052000-11052600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:11052000-11052600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
49	chr2:11052000-11052800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr2:11052000-11052800	Active TSS	A549	lung

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