Variant report

Variant	esv3417338
Chromosome Location	chr2:210635907-210637905
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	ATF2	chr2:210636284-210636620	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr2:210636272-210636791	H1-hESC	embryonic stem cell:	n/a	n/a
3	CBX3	chr2:210636388-210636626	K562	blood:	n/a	n/a
4	CHD1	chr2:210636174-210636414	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr2:210636345-210636660	H1-hESC	embryonic stem cell:	n/a	chr2:210636639-210636649 chr2:210636538-210636548
6	CTBP2	chr2:210636161-210636997	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr2:210636920-210637070	HBMEC	blood vessel:	n/a	n/a
8	CTCF	chr2:210636900-210637050	HRPEpiC	eye:	n/a	n/a
9	CTCF	chr2:210636896-210637040	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr2:210637000-210637150	BE2_C	brain:	n/a	n/a
11	CTCF	chr2:210636300-210636450	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr2:210636500-210636650	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr2:210636280-210636430	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr2:210636360-210636510	SAEC	small airway:	n/a	n/a
15	CTCF	chr2:210636920-210637070	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr2:210636502-210636608	MCF-7	breast:	n/a	n/a
17	CTCF	chr2:210636487-210636499	MCF-7	breast:	n/a	n/a
18	CTCF	chr2:210636520-210636670	HMEC	breast:	n/a	n/a
19	CTCF	chr2:210636980-210637130	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr2:210636883-210636894	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr2:210636840-210636990	WERI-Rb-1	eye:	n/a	n/a
22	EGR1	chr2:210636395-210636609	K562	blood:	n/a	chr2:210636529-210636542 chr2:210636532-210636542 chr2:210636499-210636513 chr2:210636528-210636543 chr2:210636529-210636543 chr2:210636531-210636541 chr2:210636525-210636547 chr2:210636532-210636541 chr2:210636530-210636541 chr2:210636529-210636542 chr2:210636531-210636541 chr2:210636529-210636542 chr2:210636530-210636544 chr2:210636529-210636542
23	EGR1	chr2:210636240-210636831	ECC-1	luminal epithelium:	n/a	chr2:210636529-210636542 chr2:210636532-210636542 chr2:210636499-210636513 chr2:210636528-210636543 chr2:210636529-210636543 chr2:210636531-210636541 chr2:210636525-210636547 chr2:210636532-210636541 chr2:210636530-210636541 chr2:210636529-210636542 chr2:210636531-210636541 chr2:210636529-210636542 chr2:210636530-210636544 chr2:210636529-210636542
24	EGR1	chr2:210636250-210636734	ECC-1	luminal epithelium:	n/a	chr2:210636529-210636542 chr2:210636532-210636542 chr2:210636499-210636513 chr2:210636528-210636543 chr2:210636529-210636543 chr2:210636531-210636541 chr2:210636525-210636547 chr2:210636532-210636541 chr2:210636530-210636541 chr2:210636529-210636542 chr2:210636531-210636541 chr2:210636529-210636542 chr2:210636530-210636544 chr2:210636529-210636542
25	EGR1	chr2:210636225-210636768	H1-hESC	embryonic stem cell:	n/a	chr2:210636529-210636542 chr2:210636532-210636542 chr2:210636499-210636513 chr2:210636528-210636543 chr2:210636529-210636543 chr2:210636531-210636541 chr2:210636525-210636547 chr2:210636532-210636541 chr2:210636530-210636541 chr2:210636529-210636542 chr2:210636531-210636541 chr2:210636529-210636542 chr2:210636530-210636544 chr2:210636529-210636542
26	EGR1	chr2:210636374-210636664	K562	blood:	n/a	chr2:210636531-210636541 chr2:210636529-210636543 chr2:210636529-210636542 chr2:210636531-210636541 chr2:210636525-210636547 chr2:210636499-210636513 chr2:210636532-210636542 chr2:210636532-210636541 chr2:210636528-210636543 chr2:210636529-210636542 chr2:210636530-210636541 chr2:210636530-210636544 chr2:210636529-210636542 chr2:210636529-210636542
27	EGR1	chr2:210636161-210636768	MCF-7	breast:	n/a	chr2:210636529-210636542 chr2:210636532-210636542 chr2:210636499-210636513 chr2:210636528-210636543 chr2:210636529-210636543 chr2:210636531-210636541 chr2:210636525-210636547 chr2:210636532-210636541 chr2:210636530-210636541 chr2:210636529-210636542 chr2:210636531-210636541 chr2:210636529-210636542 chr2:210636530-210636544 chr2:210636529-210636542
28	EGR1	chr2:210636404-210636618	GM12878	blood:	n/a	chr2:210636529-210636542 chr2:210636532-210636542 chr2:210636499-210636513 chr2:210636528-210636543 chr2:210636529-210636543 chr2:210636531-210636541 chr2:210636525-210636547 chr2:210636532-210636541 chr2:210636530-210636541 chr2:210636529-210636542 chr2:210636531-210636541 chr2:210636529-210636542 chr2:210636530-210636544 chr2:210636529-210636542
29	EGR1	chr2:210636378-210636559	GM12878	blood:	n/a	chr2:210636529-210636542 chr2:210636532-210636542 chr2:210636499-210636513 chr2:210636528-210636543 chr2:210636529-210636543 chr2:210636531-210636541 chr2:210636525-210636547 chr2:210636532-210636541 chr2:210636530-210636541 chr2:210636529-210636542 chr2:210636531-210636541 chr2:210636529-210636542 chr2:210636530-210636544 chr2:210636529-210636542
30	EGR1	chr2:210636272-210636706	H1-hESC	embryonic stem cell:	n/a	chr2:210636529-210636542 chr2:210636532-210636542 chr2:210636499-210636513 chr2:210636528-210636543 chr2:210636529-210636543 chr2:210636531-210636541 chr2:210636525-210636547 chr2:210636532-210636541 chr2:210636530-210636541 chr2:210636529-210636542 chr2:210636531-210636541 chr2:210636529-210636542 chr2:210636530-210636544 chr2:210636529-210636542
31	EGR1	chr2:210636289-210636799	MCF-7	breast:	n/a	chr2:210636529-210636542 chr2:210636532-210636542 chr2:210636499-210636513 chr2:210636528-210636543 chr2:210636529-210636543 chr2:210636531-210636541 chr2:210636525-210636547 chr2:210636532-210636541 chr2:210636530-210636541 chr2:210636529-210636542 chr2:210636531-210636541 chr2:210636529-210636542 chr2:210636530-210636544 chr2:210636529-210636542
32	EP300	chr2:210636412-210636723	SK-N-SH_RA	brain:	n/a	chr2:210636480-210636496 chr2:210636534-210636543
33	EP300	chr2:210636288-210636773	SK-N-SH_RA	brain:	n/a	chr2:210636480-210636496 chr2:210636534-210636543
34	EP300	chr2:210636333-210636543	HepG2	liver:	n/a	chr2:210636480-210636496 chr2:210636534-210636543
35	FOXP2	chr2:210636326-210636627	PFSK-1	brain:	n/a	n/a
36	FOXP2	chr2:210636386-210636608	SK-N-MC	brain:	n/a	n/a
37	GATA2	chr2:210637060-210637694	SH-SY5Y	brain:	n/a	chr2:210637454-210637461 chr2:210637449-210637465 chr2:210637447-210637468 chr2:210637454-210637461 chr2:210637454-210637461 chr2:210637450-210637457
38	GATA3	chr2:210637264-210637682	SH-SY5Y	brain:	n/a	chr2:210637454-210637461 chr2:210637449-210637465 chr2:210637447-210637468 chr2:210637454-210637461 chr2:210637454-210637461 chr2:210637450-210637457
39	HDAC2	chr2:210636253-210636753	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUND	chr2:210636380-210636611	H1-hESC	embryonic stem cell:	n/a	n/a
41	JUND	chr2:210636366-210636589	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr2:210636240-210636700	ECC-1	luminal epithelium:	n/a	chr2:210636566-210636576
43	MAX	chr2:210636201-210636750	SK-N-SH	brain:	n/a	chr2:210636566-210636576
44	MAX	chr2:210636317-210636787	H1-hESC	embryonic stem cell:	n/a	chr2:210636566-210636576
45	MAZ	chr2:210636418-210636688	HepG2	liver:	n/a	chr2:210636566-210636576
46	MAZ	chr2:210636287-210636851	IMR90	lung:	n/a	chr2:210636566-210636576
47	MAZ	chr2:210636382-210636644	K562	blood:	n/a	chr2:210636566-210636576
48	MXI1	chr2:210635646-210638365	SK-N-SH	brain:	n/a	n/a
49	MXI1	chr2:210636210-210636799	IMR90	lung:	n/a	n/a
50	MXI1	chr2:210636308-210636593	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:210636783-210636833	HUVEC	blood vessel:	n/a
2	chr2:210636783-210636833	HUVEC	blood vessel:	n/a
3	chr2:210636748-210636798	ovcar-3	ovarian:	n/a
4	chr2:210636748-210636798	LNCaP	prostate:	n/a
5	chr2:210636783-210636833	MCF10A-Er-Src	breast:	n/a
6	chr2:210636560-210636610	AG09309	skin:	n/a
7	chr2:210636350-210636400	HEK293	kidney:	embryo
8	chr2:210636539-210636589	RPTEC	kidney:	n/a
9	chr2:210636748-210636798	HL-60	blood:	n/a
10	chr2:210636844-210636894	AG10803	skin:	n/a
11	chr2:210636533-210636583	GM12878	blood:	n/a
12	chr2:210636844-210636894	ProgFib	skin:	n/a
13	chr2:210636783-210636833	SK-N-SH_RA	brain:	n/a
14	chr2:210636560-210636610	SK-N-SH_RA	brain:	n/a
15	chr2:210636398-210636448	GM12878	blood:	n/a
16	chr2:210636398-210636448	BE2_C	brain:	n/a
17	chr2:210636350-210636400	HL-60	blood:	n/a
18	chr2:210637094-210637144	GM19239	blood:	n/a
19	chr2:210636350-210636400	NHBE	bronchial:	n/a
20	chr2:210636783-210636833	NH-A	brain:	n/a
21	chr2:210637094-210637144	HCF	heart:	n/a
22	chr2:210636350-210636400	GM12878	blood:	n/a
23	chr2:210636539-210636589	Caco-2	colon:	n/a
24	chr2:210636783-210636833	AG10803	skin:	n/a
25	chr2:210636539-210636589	GM12892	blood:	n/a
26	chr2:210636783-210636833	PFSK-1	brain:	n/a
27	chr2:210636350-210636400	BE2_C	brain:	n/a
28	chr2:210636560-210636610	AG09319	gingival:	n/a
29	chr2:210636350-210636400	A549	lung:	n/a
30	chr2:210636398-210636448	ECC-1	luminal epithelium:	n/a
31	chr2:210636350-210636400	NH-A	brain:	n/a
32	chr2:210636350-210636400	AG04450	lung:	fetal
33	chr2:210636560-210636610	SK-N-MC	brain:	n/a
34	chr2:210636539-210636589	HPAEpiC	pulmonary alveolar:	n/a
35	chr2:210637094-210637144	SK-N-SH_RA	brain:	n/a
36	chr2:210636783-210636833	Hela-S3	cervix:	n/a
37	chr2:210636748-210636798	SKMC	muscle:	n/a
38	chr2:210636539-210636589	NB4	blood:	n/a
39	chr2:210636783-210636833	HCT-116	colon:	n/a
40	chr2:210637094-210637144	GM12878	blood:	n/a
41	chr2:210636748-210636798	K562	blood:	n/a
42	chr2:210636350-210636400	IMR90	lung:	fetal
43	chr2:210637094-210637144	HRE	kidney:	n/a
44	chr2:210637094-210637144	T-47D	breast:	n/a
45	chr2:210636783-210636833	ECC-1	luminal epithelium:	n/a
46	chr2:210636398-210636448	NH-A	brain:	n/a
47	chr2:210636350-210636400	ProgFib	skin:	n/a
48	chr2:210636539-210636589	AG04449	skin:	fetal
49	chr2:210636748-210636798	NB4	blood:	n/a
50	chr2:210636560-210636610	RPTEC	kidney:	n/a

Variant related genes	Relation type
UNC80	TF binding region
UNC80	CpG island

Extended variants
information (count: 64 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527842807	chr2:210635969-210635970	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs548072947	chr2:210636005-210636006	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs192421609	chr2:210636018-210636019	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs550628365	chr2:210636052-210636053	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs117906025	chr2:210636152-210636153	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs111867942	chr2:210636244-210636245	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs116634161	chr2:210636256-210636257	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs532217313	chr2:210636257-210636258	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs535558194	chr2:210636280-210636281	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs548761251	chr2:210636282-210636283	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs375823520	chr2:210636351-210636352	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs575289890	chr2:210636432-210636433	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs77620252	chr2:210636455-210636456	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs370978550	chr2:210636473-210636474	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs558069830	chr2:210636479-210636480	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs201385333	chr2:210636491-210636492	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs539478973	chr2:210636505-210636506	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs556162721	chr2:210636551-210636552	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs575996064	chr2:210636571-210636572	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs542320565	chr2:210636616-210636617	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs555533397	chr2:210636624-210636625	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs572646178	chr2:210636644-210636645	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs541256290	chr2:210636711-210636712	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs116428671	chr2:210636747-210636748	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs201138684	chr2:210636771-210636772	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145528914	chr2:210636854-210636855	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200211384	chr2:210636895-210636896	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112659441	chr2:210636974-210636975	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549106675	chr2:210637030-210637031	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114140318	chr2:210637149-210637150	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528320689	chr2:210637170-210637171	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114855728	chr2:210637290-210637291	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs571082564	chr2:210637298-210637299	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs148817263	chr2:210637314-210637315	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs534043596	chr2:210637323-210637324	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs556798662	chr2:210637348-210637349	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs569718170	chr2:210637373-210637374	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs181320194	chr2:210637375-210637376	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs555870382	chr2:210637385-210637386	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs79219128	chr2:210637406-210637407	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs541486654	chr2:210637437-210637438	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs558398730	chr2:210637474-210637475	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs367703496	chr2:210637493-210637494	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs558582193	chr2:210637494-210637495	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs578186790	chr2:210637506-210637507	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs576933194	chr2:210637507-210637508	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs544129086	chr2:210637577-210637578	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs563966301	chr2:210637644-210637645	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs75640079	chr2:210637670-210637671	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs542241225	chr2:210637691-210637692	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	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
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210632600-210636200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:210635600-210637200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr2:210635800-210636000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:210635800-210636000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:210635800-210636000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:210635800-210636000	Enhancers	Brain Anterior Caudate	brain
7	chr2:210635800-210636000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:210635800-210636000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:210635800-210636000	Enhancers	Fetal Brain Male	brain
10	chr2:210635800-210637200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:210636000-210636200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:210636000-210636200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:210636000-210636200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
14	chr2:210636000-210636200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:210636000-210636200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:210636000-210636200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:210636000-210636200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:210636000-210636200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:210636000-210636200	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr2:210636000-210636200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
21	chr2:210636000-210636200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:210636000-210636200	Enhancers	Fetal Heart	heart
23	chr2:210636000-210636200	Bivalent Enhancer	Fetal Stomach	stomach
24	chr2:210636000-210636200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
25	chr2:210636000-210636200	Enhancers	HMEC	breast
26	chr2:210636000-210636200	Bivalent/Poised TSS	NHEK	skin
27	chr2:210636000-210636400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr2:210636000-210636400	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr2:210636000-210636400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr2:210636000-210636400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:210636000-210636400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
32	chr2:210636000-210636400	Flanking Active TSS	Fetal Brain Male	brain
33	chr2:210636000-210636400	Active TSS	Fetal Kidney	kidney
34	chr2:210636000-210636400	Active TSS	NHDF-Ad	bronchial
35	chr2:210636000-210636800	Active TSS	Ovary	ovary
36	chr2:210636000-210637000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
37	chr2:210636000-210637000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:210636000-210637000	Active TSS	Muscle Satellite Cultured Cells	--
39	chr2:210636000-210637000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:210636000-210637200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr2:210636000-210637400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr2:210636000-210637400	Active TSS	Brain Germinal Matrix	brain
43	chr2:210636000-210637400	Active TSS	Fetal Brain Female	brain
44	chr2:210636000-210637400	Active TSS	NH-A	brain
45	chr2:210636000-210637600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr2:210636000-210637600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr2:210636000-210637600	Active TSS	Brain Cingulate Gyrus	brain
48	chr2:210636000-210638000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr2:210636000-210638200	Active TSS	Brain Hippocampus Middle	brain
50	chr2:210636000-210638400	Active TSS	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links