Variant report

Variant	esv3379718
Chromosome Location	chr2:209992495-210010216
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	BCL11A	chr2:210002834-210003125	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F4	chr2:210009157-210009305	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr2:210006100-210006150	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr2:210006671-210006766	MCF10A-Er-Src	breast:	n/a	chr2:210006711-210006718 chr2:210006710-210006719 chr2:210006709-210006718 chr2:210006708-210006720 chr2:210006709-210006719 chr2:210006710-210006718
5	FOS	chr2:210006554-210006870	MCF10A-Er-Src	breast:	n/a	chr2:210006711-210006718 chr2:210006710-210006719 chr2:210006709-210006718 chr2:210006708-210006720 chr2:210006709-210006719 chr2:210006710-210006718
6	FOS	chr2:210005958-210006172	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr2:210006582-210006818	MCF10A-Er-Src	breast:	n/a	chr2:210006711-210006718 chr2:210006710-210006719 chr2:210006709-210006718 chr2:210006708-210006720 chr2:210006709-210006719 chr2:210006710-210006718
8	FOS	chr2:210006568-210006781	MCF10A-Er-Src	breast:	n/a	chr2:210006711-210006718 chr2:210006710-210006719 chr2:210006709-210006718 chr2:210006708-210006720 chr2:210006709-210006719 chr2:210006710-210006718
9	FOXA2	chr2:209993596-209993828	A549	lung:	n/a	n/a
10	FOXA2	chr2:209993356-209994043	A549	lung:	n/a	n/a
11	JUN	chr2:210006560-210006795	HepG2	liver:	n/a	chr2:210006711-210006718 chr2:210006710-210006719 chr2:210006709-210006718 chr2:210006708-210006720 chr2:210006709-210006719 chr2:210006710-210006718
12	JUND	chr2:210006552-210006898	HepG2	liver:	n/a	chr2:210006711-210006718 chr2:210006710-210006719 chr2:210006709-210006718 chr2:210006708-210006720 chr2:210006709-210006719 chr2:210006710-210006718 chr2:210006708-210006719
13	JUND	chr2:210006532-210007071	SK-N-SH	brain:	n/a	chr2:210006711-210006718 chr2:210006710-210006719 chr2:210006709-210006718 chr2:210006708-210006720 chr2:210006709-210006719 chr2:210006710-210006718 chr2:210006708-210006719
14	JUND	chr2:210006688-210006826	H1-hESC	embryonic stem cell:	n/a	chr2:210006711-210006718 chr2:210006710-210006719 chr2:210006709-210006718 chr2:210006708-210006720 chr2:210006709-210006719 chr2:210006710-210006718 chr2:210006708-210006719
15	JUND	chr2:210002947-210003227	H1-hESC	embryonic stem cell:	n/a	chr2:210003114-210003126
16	MAFK	chr2:210004837-210004937	HepG2	liver:	n/a	n/a
17	MAFK	chr2:210004919-210004923	HepG2	liver:	n/a	n/a
18	MYC	chr2:210003562-210003667	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYC	chr2:210006867-210006895	GM12878	blood:	n/a	n/a
20	NANOG	chr2:210002819-210003111	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr2:210010103-210010369	MCF-7	breast:	n/a	n/a
22	POLR2A	chr2:210010108-210010382	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr2:210009949-210010225	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr2:210009988-210010347	A549	lung:	n/a	n/a
25	POLR2A	chr2:210010043-210010054	MCF-7	breast:	n/a	n/a
26	POLR2A	chr2:210010055-210010060	MCF-7	breast:	n/a	n/a
27	POLR2A	chr2:210010066-210010189	MCF-7	breast:	n/a	n/a
28	POLR2A	chr2:210009909-210010389	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr2:210010053-210010302	H1-hESC	embryonic stem cell:	n/a	n/a
30	REST	chr2:210010172-210010372	PANC-1	pancreas:	n/a	n/a
31	REST	chr2:210010016-210010308	H1-hESC	embryonic stem cell:	n/a	n/a
32	REST	chr2:210010085-210010305	H1-hESC	embryonic stem cell:	n/a	n/a
33	SP1	chr2:210002807-210003277	H1-hESC	embryonic stem cell:	n/a	n/a
34	STAT3	chr2:210006104-210006114	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr2:210004377-210004522	MCF10A-Er-Src	breast:	n/a	n/a
36	TAF1	chr2:210010080-210010344	HepG2	liver:	n/a	n/a
37	TCF12	chr2:210002801-210003195	H1-hESC	embryonic stem cell:	n/a	chr2:210003018-210003028
38	TEAD4	chr2:210002814-210003243	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:210010193-210010243	SK-N-SH	brain:	n/a
2	chr2:210010193-210010243	SK-N-SH	brain:	n/a
3	chr2:210003746-210003796	HNPCEpiC	eye:	n/a
4	chr2:210003746-210003796	AG09309	skin:	n/a
5	chr2:210003746-210003796	IMR90	lung:	fetal
6	chr2:210003746-210003796	BE2_C	brain:	n/a
7	chr2:210010124-210010174	AG09309	skin:	n/a
8	chr2:210008092-210008142	HCPEpiC	choroid plexus:	n/a
9	chr2:210008092-210008142	AG09319	gingival:	n/a
10	chr2:210010124-210010174	SAEC	small airway:	n/a
11	chr2:210010124-210010174	AG04449	skin:	fetal
12	chr2:210010193-210010243	NT2-D1	testis:	n/a
13	chr2:210003746-210003796	Jurkat	blood:	n/a
14	chr2:210003746-210003796	HL-60	blood:	n/a
15	chr2:210008092-210008142	HAEpiC	amniotic membrane:	n/a
16	chr2:210008092-210008142	SKMC	muscle:	n/a
17	chr2:210010193-210010243	SKMC	muscle:	n/a
18	chr2:210010124-210010174	PFSK-1	brain:	n/a
19	chr2:210010193-210010243	GM12878	blood:	n/a
20	chr2:210010124-210010174	HCT-116	colon:	n/a
21	chr2:210010193-210010243	HNPCEpiC	eye:	n/a
22	chr2:210003746-210003796	HCM	heart:	n/a
23	chr2:210003746-210003796	MCF-7	breast:	n/a
24	chr2:210003746-210003796	Hepatocyte	liver:	n/a
25	chr2:210010124-210010174	BE2_C	brain:	n/a
26	chr2:210003746-210003796	PrEC	prostate:	n/a
27	chr2:210008092-210008142	U87	brain:	n/a
28	chr2:210010193-210010243	NHBE	bronchial:	n/a
29	chr2:210003746-210003796	MCF10A-Er-Src	breast:	n/a
30	chr2:210010193-210010243	A549	lung:	n/a
31	chr2:210010124-210010174	PrEC	prostate:	n/a
32	chr2:210003746-210003796	Hela-S3	cervix:	n/a
33	chr2:210010193-210010243	HCM	heart:	n/a
34	chr2:210010193-210010243	AG04450	lung:	fetal
35	chr2:210008092-210008142	Caco-2	colon:	n/a
36	chr2:210003746-210003796	GM12892	blood:	n/a
37	chr2:210010124-210010174	SK-N-SH	brain:	n/a
38	chr2:210010124-210010174	HUVEC	blood vessel:	n/a
39	chr2:210008092-210008142	SK-N-SH	brain:	n/a
40	chr2:210010193-210010243	HCPEpiC	choroid plexus:	n/a
41	chr2:210010124-210010174	HPAEpiC	pulmonary alveolar:	n/a
42	chr2:210008092-210008142	HEEpiC	esophagus:	n/a
43	chr2:210010193-210010243	AG10803	skin:	n/a
44	chr2:210003746-210003796	HCPEpiC	choroid plexus:	n/a
45	chr2:210003746-210003796	HPAEpiC	pulmonary alveolar:	n/a
46	chr2:210010124-210010174	GM12892	blood:	n/a
47	chr2:210010124-210010174	HEK293	kidney:	embryo
48	chr2:210008092-210008142	MCF10A-Er-Src	breast:	n/a
49	chr2:210008092-210008142	Jurkat	blood:	n/a
50	chr2:210010193-210010243	GM12891	blood:	n/a

Variant related genes	Relation type
CRYGFP	TF binding region
CRYGFP	CpG island

Extended variants
information (count: 471 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549310466	chr2:209993221-209993222	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs560378859	chr2:209993259-209993260	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs7580902	chr2:209993266-209993267	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs534795567	chr2:209993275-209993276	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs143855694	chr2:209993296-209993297	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs563103106	chr2:209993325-209993326	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs10210976	chr2:209993326-209993327	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548614698	chr2:209993362-209993363	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs567725066	chr2:209993381-209993382	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs568005752	chr2:209993386-209993387	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs527290990	chr2:209993409-209993410	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs185956167	chr2:209993417-209993418	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs570206220	chr2:209993420-209993421	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs192160145	chr2:209993421-209993422	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs555921780	chr2:209993423-209993424	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs569537087	chr2:209993435-209993436	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs535332552	chr2:209993436-209993437	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs539049517	chr2:209993459-209993460	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs142103033	chr2:209993460-209993461	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs35954908	chr2:209993477-209993478	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs183990511	chr2:209993506-209993507	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533930913	chr2:209993523-209993524	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs554172058	chr2:209993526-209993527	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs187301867	chr2:209993528-209993529	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs546337862	chr2:209993536-209993537	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs192242994	chr2:209993548-209993549	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs576717174	chr2:209993554-209993555	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs182499874	chr2:209993559-209993560	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs562242164	chr2:209993560-209993561	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs373876490	chr2:209993572-209993573	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs367576361	chr2:209993575-209993576	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs528029253	chr2:209993579-209993580	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs10166254	chr2:209993592-209993593	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs187186986	chr2:209993595-209993596	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs192714164	chr2:209993597-209993598	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs78981851	chr2:209999023-209999024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371867861	chr2:209999033-209999034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62212941	chr2:209999036-209999037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377188459	chr2:209999078-209999079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566096211	chr2:209999135-209999136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369874412	chr2:209999148-209999149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534887985	chr2:209999161-209999162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557962387	chr2:209999190-209999191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577893711	chr2:209999194-209999195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372863868	chr2:209999220-209999221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561304056	chr2:209999232-209999233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189658126	chr2:209999268-209999269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556646974	chr2:209999278-209999279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573590890	chr2:209999279-209999280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7576772	chr2:209999282-209999283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	22522925	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209993200-209993600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:209999000-210003000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:210001000-210001400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr2:210001400-210003000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:210002800-210003400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr2:210002800-210005200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:210003000-210003400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:210003000-210003600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr2:210003000-210004800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:210003000-210004800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:210003000-210005000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:210003000-210006400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:210003400-210004800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:210003400-210006200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:210003400-210012000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:210003600-210004000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:210003600-210007000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:210004000-210004200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:210004200-210004600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:210004600-210004800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr2:210004600-210004800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:210004600-210005200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:210004800-210005200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:210004800-210006000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:210004800-210006200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:210005000-210005400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:210005000-210007200	Enhancers	NHEK	skin
28	chr2:210005000-210010000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:210005200-210005400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:210005200-210005400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:210005200-210009400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:210005400-210006200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:210005400-210006600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:210005400-210006800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:210005600-210007000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:210006000-210006200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr2:210006200-210006400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr2:210006200-210009400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:210006200-210011000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:210006200-210025400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:210006400-210006800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:210006400-210007000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:210006400-210008000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:210006600-210007000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr2:210006800-210007000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr2:210006800-210007000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:210006800-210007200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:210006800-210008200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:210007000-210008200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:210007000-210009200	Weak transcription	H1 Cell Line	embryonic stem cell

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