Variant report

Variant	esv3372390
Chromosome Location	chr2:235102001-235104881
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62184338	chr2:235102011-235102012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368056911	chr2:235102052-235102053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576758215	chr2:235102075-235102076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111393561	chr2:235102099-235102100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562404197	chr2:235102103-235102104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192402499	chr2:235102134-235102135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541085237	chr2:235102230-235102231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112508743	chr2:235102240-235102241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188107865	chr2:235102241-235102242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369047438	chr2:235102260-235102261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563436963	chr2:235102290-235102291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531430716	chr2:235102319-235102320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547965876	chr2:235102323-235102324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568287407	chr2:235102361-235102362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534047347	chr2:235102376-235102377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180697521	chr2:235102388-235102389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570468759	chr2:235102392-235102393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551153883	chr2:235102415-235102416	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs112840293	chr2:235102419-235102420	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs539061438	chr2:235102437-235102438	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs186094715	chr2:235102446-235102447	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs62184339	chr2:235102455-235102456	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs536074274	chr2:235102456-235102457	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs555965502	chr2:235102467-235102468	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs71423629	chr2:235102473-235102474	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs535948659	chr2:235102486-235102487	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs541668541	chr2:235102499-235102500	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs112222193	chr2:235102533-235102534	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs201552988	chr2:235102546-235102547	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs189454698	chr2:235102547-235102548	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs578005049	chr2:235102548-235102549	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs543389320	chr2:235102582-235102583	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs148522727	chr2:235102617-235102618	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs80124666	chr2:235102664-235102665	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs181446588	chr2:235102668-235102669	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs561882622	chr2:235102677-235102678	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs527486039	chr2:235102700-235102701	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs368347906	chr2:235102718-235102719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs62184340	chr2:235102727-235102728	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142867873	chr2:235102738-235102739	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs62184341	chr2:235102783-235102784	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs373318890	chr2:235102830-235102831	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs570655819	chr2:235102857-235102858	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs62184342	chr2:235102882-235102883	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs371326241	chr2:235102895-235102896	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs558068170	chr2:235102907-235102908	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs569786456	chr2:235102964-235102965	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs151049634	chr2:235102973-235102974	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs115089579	chr2:235102987-235102988	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs186037033	chr2:235102992-235102993	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Wilms tumour	21544195	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:235100800-235102600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:235100800-235102600	Weak transcription	A549	lung
3	chr2:235101000-235102400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:235101000-235102400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:235101000-235102400	Weak transcription	Dnd41	blood
6	chr2:235101000-235102400	Weak transcription	NHEK	skin
7	chr2:235101000-235107400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:235102400-235102800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:235102400-235103200	ZNF genes & repeats	Dnd41	blood
10	chr2:235102400-235104600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:235102400-235104600	Enhancers	NHEK	skin
12	chr2:235102600-235102800	Bivalent Enhancer	NHDF-Ad	bronchial
13	chr2:235102600-235103200	Flanking Active TSS	A549	lung
14	chr2:235102800-235103000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:235102800-235103000	Enhancers	Brain Germinal Matrix	brain
16	chr2:235102800-235103200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:235102800-235103200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:235103200-235103400	Enhancers	A549	lung
19	chr2:235103200-235104600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:235103400-235108400	Weak transcription	A549	lung
21	chr2:235104600-235107400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:235104600-235111000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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