Variant report

Variant	esv21301
Chromosome Location	chr2:33983236-33994164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33973736..33977470-chr2:33981372..33984191,3	K562	blood:

Extended variants
information (count: 370 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189421738	chr2:33984215-33984216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs541352098	chr2:33984261-33984262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs150628598	chr2:33984272-33984273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs374620516	chr2:33984287-33984288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs550336764	chr2:33984346-33984347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs529907281	chr2:33984364-33984365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs35367268	chr2:33984387-33984388	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs527869713	chr2:33986808-33986809	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547933590	chr2:33986809-33986810	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs567781773	chr2:33986811-33986812	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs180942084	chr2:33986812-33986813	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs367697128	chr2:33986828-33986829	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs555996720	chr2:33986854-33986855	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs58466063	chr2:33986872-33986873	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556117781	chr2:33986903-33986904	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs199722019	chr2:33986914-33986915	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs558410456	chr2:33986930-33986931	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs188761903	chr2:33986931-33986932	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs540942737	chr2:33986969-33986970	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181367270	chr2:33986970-33986971	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs185638365	chr2:33986996-33986997	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs543097841	chr2:33987000-33987001	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372542864	chr2:33987002-33987003	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190787334	chr2:33987042-33987043	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181705183	chr2:33987049-33987050	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187390064	chr2:33987057-33987058	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527958944	chr2:33987060-33987061	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547775445	chr2:33987088-33987089	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115697447	chr2:33987110-33987111	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530274729	chr2:33987119-33987120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191815488	chr2:33987120-33987121	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569442507	chr2:33987125-33987126	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182947640	chr2:33987126-33987127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377169502	chr2:33987132-33987133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35912256	chr2:33987137-33987138	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558097243	chr2:33987138-33987139	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565358232	chr2:33987151-33987152	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534872279	chr2:33987157-33987158	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554606845	chr2:33987194-33987195	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371636427	chr2:33987195-33987196	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574571522	chr2:33987222-33987223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116190581	chr2:33987233-33987234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556603139	chr2:33987245-33987246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76852791	chr2:33987355-33987356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545537880	chr2:33987359-33987360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565229441	chr2:33987364-33987365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199508266	chr2:33987377-33987378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145158580	chr2:33987378-33987379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7577901	chr2:33987417-33987418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs541704503	chr2:33987424-33987425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33984200-33984400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:33986800-33987000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr2:33986800-33987000	Active TSS	Gastric	stomach
4	chr2:33986800-33987200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:33987000-33987200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:33987000-34000200	Weak transcription	Gastric	stomach
7	chr2:33987200-33987600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:33987200-33988400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:33988000-33988800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr2:33988000-33992200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:33988200-33988400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:33988200-33988800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:33988200-33989200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:33988200-33991200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:33988400-33989000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:33988400-33989000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:33988400-33989000	Enhancers	Lung	lung
18	chr2:33988400-33989800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:33988400-33991000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:33988600-33988800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:33988600-33988800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:33988800-33989400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:33988800-33989800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:33988800-33990000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:33988800-33991000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:33989200-33989600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:33989400-33990000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:33989600-33990200	Enhancers	Fetal Kidney	kidney
29	chr2:33989600-33990400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:33989800-33990000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:33989800-33990200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:33989800-33990400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:33989800-33990600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:33989800-33990800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:33989800-33990800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:33989800-33990800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:33990000-33990600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:33990000-33990800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:33990400-33991400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:33990400-33995000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:33990800-33995200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:33991400-33991600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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