Variant report

Variant	esv3328997
Chromosome Location	chr2:77316346-77335432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 971 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:971 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532248815	chr2:77316346-77316347	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs7580861	chr2:77316349-77316350	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs377522362	chr2:77316351-77316352	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs7607612	chr2:77316352-77316353	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs565785394	chr2:77316356-77316357	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs7607616	chr2:77316361-77316362	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs7568462	chr2:77316365-77316366	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs375689236	chr2:77316377-77316378	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs149033061	chr2:77316378-77316379	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs112589979	chr2:77316384-77316385	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs113540086	chr2:77316391-77316392	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs371418016	chr2:77316393-77316394	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs554622622	chr2:77316404-77316405	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs116034321	chr2:77316433-77316434	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs557924373	chr2:77316444-77316445	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs537025283	chr2:77316452-77316453	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs556610683	chr2:77316462-77316463	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs578187692	chr2:77316480-77316481	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs545321849	chr2:77316498-77316499	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs572707391	chr2:77316512-77316513	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs553899935	chr2:77316516-77316517	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs75362197	chr2:77316518-77316519	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs572216126	chr2:77316524-77316525	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs549025927	chr2:77316543-77316544	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs561086134	chr2:77316553-77316554	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs528480778	chr2:77316555-77316556	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs191604979	chr2:77316565-77316566	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs143188336	chr2:77316579-77316580	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs550444045	chr2:77316581-77316582	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs546703856	chr2:77316584-77316585	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs565082009	chr2:77316595-77316596	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs532390137	chr2:77316602-77316603	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs547624217	chr2:77316608-77316609	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs559556418	chr2:77316612-77316613	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs571892654	chr2:77316617-77316618	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs148018291	chr2:77316637-77316638	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs529840811	chr2:77316668-77316669	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs207461880	chr2:77316741-77316742	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs548330141	chr2:77316752-77316753	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs538930921	chr2:77316763-77316764	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs148262798	chr2:77316790-77316791	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs573984181	chr2:77316801-77316802	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs536686760	chr2:77316854-77316855	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs552145663	chr2:77316856-77316857	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs183330370	chr2:77316859-77316860	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs536849818	chr2:77316871-77316872	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs13391333	chr2:77316880-77316881	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs572277821	chr2:77316907-77316908	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs536432112	chr2:77316916-77316917	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs187100951	chr2:77316937-77316938	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77314400-77321200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:77314800-77317000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:77315000-77317600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr2:77315200-77317400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr2:77315200-77318200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:77315200-77318200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:77315200-77319000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:77315200-77320200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:77315200-77321600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:77315400-77317000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr2:77315400-77317200	Active TSS	H1 Cell Line	embryonic stem cell
12	chr2:77315400-77317600	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr2:77315400-77319600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:77315400-77321000	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr2:77316200-77316400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:77316200-77318200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
17	chr2:77316400-77317200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:77317000-77318200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
19	chr2:77317000-77319800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
20	chr2:77317200-77317400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:77317200-77318000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:77317200-77319600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
23	chr2:77317400-77318000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
24	chr2:77317600-77318200	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
25	chr2:77317600-77318800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
26	chr2:77318000-77321200	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr2:77318000-77329200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:77318200-77319200	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr2:77318200-77321200	Active TSS	H9 Cell Line	embryonic stem cell
30	chr2:77318200-77321200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:77318200-77321600	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr2:77318200-77328400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:77318800-77321200	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr2:77319000-77324400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:77319200-77322600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
36	chr2:77319600-77321400	Active TSS	H1 Cell Line	embryonic stem cell
37	chr2:77319800-77320000	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr2:77320000-77320200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
39	chr2:77320200-77321200	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr2:77320200-77329000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:77321000-77323200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
42	chr2:77321200-77321600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr2:77321200-77321600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:77321200-77322200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr2:77321200-77323200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
46	chr2:77321200-77323200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
47	chr2:77321200-77323200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
48	chr2:77321400-77321600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:77321600-77321800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr2:77321600-77322000	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell

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