Variant report

Variant	esv3424240
Chromosome Location	chr2:211998732-212001480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 181 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:181 , 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	rs35733931	chr2:211998771-211998772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534237361	chr2:211998785-211998786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182084108	chr2:211998809-211998810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558799176	chr2:211998865-211998866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572036513	chr2:211998878-211998879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187851088	chr2:211998890-211998891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145980473	chr2:211998931-211998932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532776721	chr2:211998939-211998940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546004516	chr2:211998952-211998953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200430019	chr2:211999005-211999006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192321805	chr2:211999006-211999007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59333562	chr2:211999010-211999011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57551021	chr2:211999031-211999032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201583048	chr2:211999037-211999038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544705400	chr2:211999053-211999054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560646019	chr2:211999054-211999055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200054206	chr2:211999085-211999086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185330122	chr2:211999088-211999089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188346323	chr2:211999096-211999097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200811563	chr2:211999140-211999141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193008132	chr2:211999169-211999170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201085782	chr2:211999193-211999194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184661070	chr2:211999295-211999296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542311718	chr2:211999299-211999300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530709747	chr2:211999335-211999336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547913085	chr2:211999338-211999339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56851939	chr2:211999341-211999342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59235112	chr2:211999360-211999361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61215568	chr2:211999369-211999370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570868153	chr2:211999383-211999384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60848883	chr2:211999384-211999385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58109294	chr2:211999390-211999391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57570552	chr2:211999403-211999404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60749825	chr2:211999417-211999418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60999864	chr2:211999419-211999420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61425006	chr2:211999425-211999426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59867992	chr2:211999430-211999431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61722033	chr2:211999444-211999445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61723889	chr2:211999458-211999459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62652062	chr2:211999463-211999464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376133815	chr2:211999474-211999475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368289189	chr2:211999481-211999482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564815887	chr2:211999518-211999519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374577649	chr2:211999519-211999520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539596155	chr2:211999543-211999544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556416124	chr2:211999544-211999545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180947306	chr2:211999552-211999553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557528923	chr2:211999573-211999574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569931696	chr2:211999577-211999578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372500476	chr2:211999581-211999582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	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
Prostate cancer	18632612	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
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211994600-211998800	Enhancers	Hela-S3	cervix
2	chr2:211996400-211998800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:211996400-211998800	Enhancers	HSMM	muscle
4	chr2:211996600-211998800	Enhancers	NH-A	brain
5	chr2:211996800-211998800	Enhancers	HMEC	breast
6	chr2:211996800-211998800	Enhancers	HUVEC	blood vessel
7	chr2:211996800-211999000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:211996800-211999000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:211997000-211998800	Enhancers	HSMMtube	muscle
10	chr2:211997000-211998800	Enhancers	NHEK	skin
11	chr2:211997000-211998800	Enhancers	Osteobl	bone
12	chr2:211997400-211998800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:211997400-211998800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:211997600-211998800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:211998200-211998800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:211998600-211998800	Enhancers	Pancreas	Pancrea
17	chr2:211998800-212004600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:211998800-212009400	Weak transcription	HSMM	muscle

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