Variant report

Variant	esv3436825
Chromosome Location	chr2:74228469-74231017
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	ATF3	chr2:74230691-74230863	K562	blood:	n/a	n/a
2	ATF3	chr2:74230631-74230943	K562	blood:	n/a	n/a
3	BACH1	chr2:74230816-74231294	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:74229699-74229979	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:74230225-74230595	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr2:74229324-74230116	GM12878	blood:	n/a	chr2:74229776-74229785 chr2:74229797-74229810 chr2:74229748-74229761 chr2:74229600-74229613
7	BHLHE40	chr2:74229850-74229877	HepG2	liver:	n/a	n/a
8	BHLHE40	chr2:74229380-74229917	GM12878	blood:	n/a	chr2:74229743-74229759 chr2:74229824-74229840
9	BHLHE40	chr2:74229577-74229979	K562	blood:	n/a	chr2:74229743-74229759 chr2:74229824-74229840
10	BRCA1	chr2:74230466-74230509	H1-hESC	embryonic stem cell:	n/a	n/a
11	CCNT2	chr2:74229529-74230091	K562	blood:	n/a	n/a
12	CEBPB	chr2:74230663-74231009	K562	blood:	n/a	n/a
13	CEBPB	chr2:74230255-74230421	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr2:74229815-74229858	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr2:74230653-74231023	IMR90	lung:	n/a	n/a
16	CEBPD	chr2:74229535-74229884	HepG2	liver:	n/a	n/a
17	CHD1	chr2:74229653-74229967	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr2:74230318-74230445	K562	blood:	n/a	n/a
19	CHD2	chr2:74229628-74229769	K562	blood:	n/a	n/a
20	CHD2	chr2:74229443-74229945	GM12878	blood:	n/a	chr2:74229603-74229613
21	CHD2	chr2:74230179-74230521	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr2:74229485-74230109	HepG2	liver:	n/a	n/a
23	CTBP2	chr2:74229476-74230346	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr2:74229520-74229670	GM06990	blood:	n/a	chr2:74229526-74229539
25	CTCF	chr2:74229760-74229910	GM12865	blood:	n/a	chr2:74229867-74229880
26	CTCF	chr2:74229700-74229850	GM12865	blood:	n/a	chr2:74229734-74229747 chr2:74229731-74229740 chr2:74229731-74229744
27	CTCF	chr2:74229420-74229570	AG04449	skin:	n/a	chr2:74229526-74229539
28	CTCF	chr2:74229500-74229650	HCPEpiC	choroid plexus:	n/a	chr2:74229526-74229539
29	CTCF	chr2:74229440-74229590	HMF	breast:	n/a	chr2:74229526-74229539
30	CTCF	chr2:74229660-74229810	AG09319	gingival:	n/a	chr2:74229734-74229747 chr2:74229731-74229740 chr2:74229731-74229744
31	CTCF	chr2:74229420-74229570	HEEpiC	esophagus:	n/a	chr2:74229526-74229539
32	CTCF	chr2:74229500-74229650	GM12869	blood:	n/a	chr2:74229526-74229539
33	CTCF	chr2:74229780-74229930	AG04450	lung:	n/a	chr2:74229867-74229880
34	CTCF	chr2:74229780-74229930	HCPEpiC	choroid plexus:	n/a	chr2:74229867-74229880
35	CTCF	chr2:74229780-74229930	AG04449	skin:	n/a	chr2:74229867-74229880
36	CTCF	chr2:74229780-74229930	AG10803	skin:	n/a	chr2:74229867-74229880
37	CTCF	chr2:74229480-74229630	GM12867	blood:	n/a	chr2:74229526-74229539
38	CTCF	chr2:74229780-74229930	WERI-Rb-1	eye:	n/a	chr2:74229867-74229880
39	CTCF	chr2:74229420-74229570	HPAF	blood vessel:	n/a	chr2:74229526-74229539
40	CTCF	chr2:74229569-74229950	GM19239	blood:	n/a	chr2:74229867-74229880 chr2:74229734-74229747 chr2:74229731-74229740 chr2:74229731-74229744
41	CTCF	chr2:74229460-74229610	K562	blood:	n/a	chr2:74229526-74229539
42	CTCF	chr2:74229668-74229725	Lung_OC	lung:	n/a	n/a
43	CTCF	chr2:74229420-74229570	GM12865	blood:	n/a	chr2:74229526-74229539
44	CTCF	chr2:74229400-74229550	HBMEC	blood vessel:	n/a	chr2:74229526-74229539
45	CTCF	chr2:74229420-74229570	AG10803	skin:	n/a	chr2:74229526-74229539
46	CTCF	chr2:74229760-74229910	AG04449	skin:	n/a	chr2:74229867-74229880
47	CTCF	chr2:74229480-74229630	HCM	heart:	n/a	chr2:74229526-74229539
48	CTCF	chr2:74229388-74229647	K562	blood:	n/a	chr2:74229526-74229539
49	CTCF	chr2:74229353-74230046	K562	blood:	n/a	chr2:74229526-74229539 chr2:74229867-74229880 chr2:74229734-74229747 chr2:74229731-74229740 chr2:74229731-74229744
50	CTCF	chr2:74229520-74229670	GM12864	blood:	n/a	chr2:74229526-74229539

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:74229775-74229825	HCF	heart:	n/a
2	chr2:74229995-74230045	ovcar-3	ovarian:	n/a
3	chr2:74230310-74230360	HRPEpiC	eye:	n/a
4	chr2:74229775-74229825	AG09319	gingival:	n/a
5	chr2:74229824-74229874	NHDF-neo	bronchial:	n/a
6	chr2:74229775-74229825	MCF10A-Er-Src	breast:	n/a
7	chr2:74229824-74229874	RPTEC	kidney:	n/a
8	chr2:74229775-74229825	GM19239	blood:	n/a
9	chr2:74229824-74229874	GM06990	blood:	n/a
10	chr2:74230310-74230360	HEK293	kidney:	embryo
11	chr2:74230310-74230360	RPTEC	kidney:	n/a
12	chr2:74229594-74229644	HCT-116	colon:	n/a
13	chr2:74229594-74229644	Caco-2	colon:	n/a
14	chr2:74228640-74228690	LNCaP	prostate:	n/a
15	chr2:74228640-74228690	HAEpiC	amniotic membrane:	n/a
16	chr2:74229594-74229644	HRE	kidney:	n/a
17	chr2:74229775-74229825	BJ	skin:	n/a
18	chr2:74229594-74229644	RPTEC	kidney:	n/a
19	chr2:74228640-74228690	HEEpiC	esophagus:	n/a
20	chr2:74228640-74228690	HCF	heart:	n/a
21	chr2:74229594-74229644	BJ	skin:	n/a
22	chr2:74229995-74230045	GM12891	blood:	n/a
23	chr2:74229824-74229874	HEEpiC	esophagus:	n/a
24	chr2:74230310-74230360	NHDF-neo	bronchial:	n/a
25	chr2:74229775-74229825	RPTEC	kidney:	n/a
26	chr2:74229775-74229825	IMR90	lung:	fetal
27	chr2:74229775-74229825	GM12878	blood:	n/a
28	chr2:74229775-74229825	Jurkat	blood:	n/a
29	chr2:74229775-74229825	SAEC	small airway:	n/a
30	chr2:74229824-74229874	K562	blood:	n/a
31	chr2:74230310-74230360	PANC-1	pancreas:	n/a
32	chr2:74230310-74230360	LNCaP	prostate:	n/a
33	chr2:74229594-74229644	HMEC	breast:	n/a
34	chr2:74229594-74229644	LNCaP	prostate:	n/a
35	chr2:74229775-74229825	GM12891	blood:	n/a
36	chr2:74229824-74229874	PrEC	prostate:	n/a
37	chr2:74229594-74229644	GM19239	blood:	n/a
38	chr2:74229824-74229874	BE2_C	brain:	n/a
39	chr2:74229775-74229825	SK-N-SH	brain:	n/a
40	chr2:74229775-74229825	SKMC	muscle:	n/a
41	chr2:74229995-74230045	HepG2	liver:	n/a
42	chr2:74229594-74229644	PrEC	prostate:	n/a
43	chr2:74229995-74230045	Caco-2	colon:	n/a
44	chr2:74229995-74230045	A549	lung:	n/a
45	chr2:74229775-74229825	NHBE	bronchial:	n/a
46	chr2:74228640-74228690	HUVEC	blood vessel:	n/a
47	chr2:74229995-74230045	HUVEC	blood vessel:	n/a
48	chr2:74228640-74228690	AG09319	gingival:	n/a
49	chr2:74230310-74230360	HAEpiC	amniotic membrane:	n/a
50	chr2:74229775-74229825	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:74054453..74058790-chr2:74226313..74230079,4	MCF-7	breast:
2	chr2:74230315..74232342-chr2:74308990..74310979,2	K562	blood:
3	chr2:74229598..74231793-chr2:74423826..74425705,2	MCF-7	breast:
4	chr2:74153007..74155466-chr2:74228011..74231907,5	K562	blood:
5	chr2:74230663..74232784-chr2:74237198..74239379,3	K562	blood:
6	chr2:74156030..74157687-chr2:74228022..74229641,2	K562	blood:
7	chr2:74230868..74232942-chr2:74282306..74284674,2	K562	blood:
8	chr2:74227468..74229424-chr2:74305762..74308272,2	K562	blood:
9	chr2:74055799..74057566-chr2:74228295..74229864,2	MCF-7	breast:
10	chr2:74225172..74227834-chr2:74230974..74232570,2	K562	blood:
11	chr2:74153966..74155499-chr2:74229025..74232283,3	K562	blood:
12	chr2:74227509..74230131-chr2:74424857..74427331,4	MCF-7	breast:
13	chr2:74227214..74229329-chr2:74244433..74246897,2	K562	blood:
14	chr2:74230957..74233519-chr2:74346140..74348157,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TET3-3	chr2:74228680-74228858	ucscGeneNc_uc002ske_2
2	lnc-TET3-3	chr2:74229333-74230678	ucscGeneNc_uc002ske_2
3	lnc-TET3-3	chr2:74228985-74229113	ucscGeneNc_uc002ske_2

Variant related genes	Relation type
TET3	TF binding region
TET3	CpG island
ENSG00000124356	chromatin interactions
ENSG00000065911	chromatin interactions
ENSG00000257800	chromatin interactions
ENSG00000114956	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188126004	chr2:74228510-74228511	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs139390966	chr2:74228535-74228536	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs115752012	chr2:74228581-74228582	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs534329128	chr2:74228582-74228583	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs191611501	chr2:74228641-74228642	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs539079925	chr2:74228642-74228643	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs76802833	chr2:74228643-74228644	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs371964251	chr2:74228650-74228651	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs568682885	chr2:74228671-74228672	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs551429997	chr2:74228711-74228712	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs537585631	chr2:74228712-74228713	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs536113697	chr2:74228731-74228732	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs114033286	chr2:74228751-74228752	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs575839366	chr2:74228759-74228760	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs374370263	chr2:74228831-74228832	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs182289116	chr2:74228869-74228870	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs558290739	chr2:74228928-74228929	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs573326818	chr2:74228939-74228940	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs540653149	chr2:74228970-74228971	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs569655266	chr2:74228976-74228977	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs529255171	chr2:74229024-74229025	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs143080619	chr2:74229090-74229091	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs563431851	chr2:74229115-74229116	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs549119488	chr2:74229123-74229124	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs562545234	chr2:74229250-74229251	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs530775221	chr2:74229255-74229256	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs199768750	chr2:74229286-74229287	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs186635281	chr2:74229290-74229291	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs537210296	chr2:74229303-74229304	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs528148556	chr2:74229316-74229317	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs114712637	chr2:74229317-74229318	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs568084374	chr2:74229350-74229351	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs535099162	chr2:74229360-74229361	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
34	rs557672764	chr2:74229379-74229380	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
35	rs569407795	chr2:74229399-74229400	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs540038726	chr2:74229401-74229402	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs553878723	chr2:74229489-74229490	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs558353891	chr2:74229498-74229499	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs573388966	chr2:74229522-74229523	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs377651564	chr2:74229588-74229589	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs555556245	chr2:74229711-74229712	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs574025760	chr2:74229777-74229778	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs192656760	chr2:74229822-74229823	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs369455469	chr2:74229921-74229922	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs116606240	chr2:74229965-74229966	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs575151399	chr2:74229973-74229974	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs113023108	chr2:74229975-74229976	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs563907877	chr2:74230037-74230038	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs528257553	chr2:74230044-74230045	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs143849378	chr2:74230127-74230128	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74215800-74229200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:74216400-74229200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:74220800-74229200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:74221200-74228800	Weak transcription	Psoas Muscle	Psoas
5	chr2:74221400-74229000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:74222600-74229200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:74222800-74229000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr2:74222800-74229200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:74223800-74228800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:74224000-74229200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:74224000-74229200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:74224000-74229400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:74224000-74230000	Enhancers	Fetal Brain Male	brain
14	chr2:74224800-74229000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:74225400-74229200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:74225600-74228600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:74225600-74229200	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:74225800-74229200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:74226000-74229200	Weak transcription	Brain Substantia Nigra	brain
20	chr2:74226000-74229200	Enhancers	Placenta	Placenta
21	chr2:74226000-74229400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:74226000-74229400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:74226200-74228600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:74226200-74228800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:74226200-74229000	Enhancers	Fetal Brain Female	brain
26	chr2:74226200-74229200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr2:74226200-74229400	Enhancers	A549	lung
28	chr2:74226200-74232400	Weak transcription	Hela-S3	cervix
29	chr2:74226400-74228800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:74226400-74229000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:74226400-74229200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:74226400-74229200	Genic enhancers	Fetal Intestine Small	intestine
33	chr2:74226400-74229200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr2:74226400-74229200	Enhancers	K562	blood
35	chr2:74226400-74229400	Enhancers	Fetal Intestine Large	intestine
36	chr2:74226400-74229400	Enhancers	Lung	lung
37	chr2:74226600-74228800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:74226600-74228800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:74226600-74228800	Enhancers	Stomach Mucosa	stomach
40	chr2:74226600-74229000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:74226600-74229200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:74226600-74229200	Enhancers	Fetal Lung	lung
43	chr2:74226600-74229400	Enhancers	Esophagus	oesophagus
44	chr2:74226600-74229600	Enhancers	NHEK	skin
45	chr2:74226600-74229800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:74226800-74229000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:74226800-74229000	Enhancers	Brain Hippocampus Middle	brain
48	chr2:74226800-74229200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:74226800-74229200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr2:74226800-74229200	Enhancers	Fetal Muscle Leg	muscle

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