Variant report

Variant	esv3322352
Chromosome Location	chr2:11648301-11650399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187904608	chr2:11648346-11648347	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144675609	chr2:11648393-11648394	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113297915	chr2:11648401-11648402	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs528500293	chr2:11648406-11648407	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs546940464	chr2:11648417-11648418	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs571856705	chr2:11648429-11648430	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs539274471	chr2:11648430-11648431	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs369544782	chr2:11648454-11648455	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs550812371	chr2:11648497-11648498	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs569102170	chr2:11648621-11648622	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536786614	chr2:11648626-11648627	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140562077	chr2:11648631-11648632	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373164790	chr2:11648646-11648647	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372925317	chr2:11648658-11648659	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150023475	chr2:11648694-11648695	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145411958	chr2:11648806-11648807	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79879600	chr2:11648810-11648811	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577860182	chr2:11648837-11648838	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545319122	chr2:11648896-11648897	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191314955	chr2:11648897-11648898	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575494250	chr2:11648944-11648945	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6739168	chr2:11648947-11648948	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs143462124	chr2:11648979-11648980	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368926948	chr2:11648980-11648981	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370202502	chr2:11649001-11649002	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376886442	chr2:11649018-11649019	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10167377	chr2:11649020-11649021	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377507376	chr2:11649039-11649040	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565279299	chr2:11649041-11649042	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370982090	chr2:11649084-11649085	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375486847	chr2:11649093-11649094	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368387908	chr2:11649101-11649102	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10191928	chr2:11649110-11649111	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548339506	chr2:11649138-11649139	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567256683	chr2:11649145-11649146	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10191947	chr2:11649149-11649150	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs555913667	chr2:11649150-11649151	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577557464	chr2:11649155-11649156	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538968154	chr2:11649161-11649162	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184966509	chr2:11649185-11649186	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575577473	chr2:11649217-11649218	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542853834	chr2:11649234-11649235	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554703638	chr2:11649250-11649251	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59029515	chr2:11649257-11649258	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs397721734	chr2:11649259-11649260	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10192123	chr2:11649289-11649290	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577873550	chr2:11649344-11649345	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540715635	chr2:11649396-11649397	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565171315	chr2:11649449-11649450	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532353399	chr2:11649459-11649460	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11639600-11655000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:11641400-11651600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:11641400-11653200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:11641600-11653800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:11643400-11651200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:11644000-11651800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:11644800-11648400	Enhancers	Ovary	ovary
8	chr2:11645200-11651800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:11646200-11648400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:11646200-11648600	Enhancers	Fetal Muscle Trunk	muscle
11	chr2:11646200-11648800	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:11646200-11648800	Enhancers	Fetal Muscle Leg	muscle
13	chr2:11646200-11649000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:11646200-11649000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:11646400-11648800	Enhancers	Brain Anterior Caudate	brain
16	chr2:11646400-11648800	Enhancers	Brain Substantia Nigra	brain
17	chr2:11646400-11651600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:11646400-11653800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:11646600-11648800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:11646600-11649000	Enhancers	Liver	Liver
21	chr2:11647000-11648600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:11647000-11664400	Weak transcription	Right Ventricle	heart
23	chr2:11647000-11665800	Weak transcription	Right Atrium	heart
24	chr2:11647400-11648800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:11647400-11648800	Enhancers	Fetal Stomach	stomach
26	chr2:11647400-11651000	Genic enhancers	HepG2	liver
27	chr2:11647600-11648400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:11647600-11648400	Enhancers	Brain Angular Gyrus	brain
29	chr2:11647600-11648800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:11647800-11648400	Enhancers	Brain Germinal Matrix	brain
31	chr2:11647800-11648600	Enhancers	Duodenum Mucosa	Duodenum
32	chr2:11647800-11648600	Enhancers	Fetal Intestine Small	intestine
33	chr2:11647800-11648600	Enhancers	Stomach Smooth Muscle	stomach
34	chr2:11647800-11648800	Enhancers	Colon Smooth Muscle	Colon
35	chr2:11647800-11648800	Enhancers	Fetal Lung	lung
36	chr2:11647800-11649400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:11648000-11648400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:11648000-11648400	Weak transcription	Left Ventricle	heart
39	chr2:11648000-11651400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:11648200-11648400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr2:11648200-11648400	Enhancers	Fetal Heart	heart
42	chr2:11648200-11648600	Enhancers	Stomach Mucosa	stomach
43	chr2:11648200-11650600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:11648400-11648600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:11648400-11648600	Enhancers	Brain Hippocampus Middle	brain
46	chr2:11648400-11648600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:11648400-11648800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:11648400-11648800	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr2:11648400-11648800	Enhancers	Left Ventricle	heart
50	chr2:11648400-11648800	Flanking Active TSS	Ovary	ovary

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