Variant report

Variant	esv3428660
Chromosome Location	chr2:209942676-209949072
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:209948063-209948098	GM20000	blood:	n/a	n/a
2	CTCF	chr2:209947512-209947571	GM20000	blood:	n/a	n/a
3	FOXA2	chr2:209947965-209948384	A549	lung:	n/a	n/a
4	POLR2A	chr2:209948923-209949115	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:209942689-209942911	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
HSPA8P6	TF binding region

Extended variants
information (count: 218 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76897402	chr2:209942691-209942692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs536046444	chr2:209942695-209942696	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs558136890	chr2:209942743-209942744	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs576685062	chr2:209942784-209942785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs566046806	chr2:209942823-209942824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs535078958	chr2:209942865-209942866	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs557885376	chr2:209942874-209942875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs192480538	chr2:209943204-209943205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58216415	chr2:209943217-209943218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549323015	chr2:209943294-209943295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183878891	chr2:209943319-209943320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186850899	chr2:209943361-209943362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191633240	chr2:209943370-209943371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571343236	chr2:209943387-209943388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537040442	chr2:209943395-209943396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556888611	chr2:209943437-209943438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575939191	chr2:209943438-209943439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531435623	chr2:209943464-209943465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535328633	chr2:209943474-209943475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368918784	chr2:209943513-209943514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147148006	chr2:209943515-209943516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564851669	chr2:209943518-209943519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111327202	chr2:209943575-209943576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564197355	chr2:209943588-209943589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113220842	chr2:209943591-209943592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567211570	chr2:209943593-209943594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182609361	chr2:209943594-209943595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546829841	chr2:209944807-209944808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546360404	chr2:209944847-209944848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148325130	chr2:209944866-209944867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538243072	chr2:209944916-209944917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558082854	chr2:209944927-209944928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181750810	chr2:209944936-209944937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113622491	chr2:209944976-209944977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113304223	chr2:209944977-209944978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12993037	chr2:209944980-209944981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562833526	chr2:209945201-209945202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190842524	chr2:209945208-209945209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183998102	chr2:209945209-209945210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550447090	chr2:209945218-209945219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570640606	chr2:209945228-209945229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188898547	chr2:209945246-209945247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192093614	chr2:209945287-209945288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529837848	chr2:209945293-209945294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535897933	chr2:209945313-209945314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138462021	chr2:209945327-209945328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144135307	chr2:209945378-209945379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538304420	chr2:209945381-209945382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551770103	chr2:209945398-209945399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568486419	chr2:209945429-209945430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Acute lymphoblastic leukemia	22237106	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209943200-209943600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:209944800-209945000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:209945200-209945400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:209945400-209949000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:209945400-209949200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:209947800-209949200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:209949000-209950000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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