Variant report

Variant	esv3394982
Chromosome Location	chr2:74229169-74232017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:450)
CpG islands
(count:367)
Chromatin interactive
region (count:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr2:74230631-74230943	K562	blood:	n/a	n/a
2	ATF3	chr2:74230691-74230863	K562	blood:	n/a	n/a
3	BACH1	chr2:74229699-74229979	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:74230225-74230595	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:74230816-74231294	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:74231082-74231201	K562	blood:	n/a	n/a
7	BCL3	chr2:74229324-74230116	GM12878	blood:	n/a	chr2:74229776-74229785 chr2:74229797-74229810 chr2:74229748-74229761 chr2:74229600-74229613
8	BHLHE40	chr2:74229577-74229979	K562	blood:	n/a	chr2:74229743-74229759 chr2:74229824-74229840
9	BHLHE40	chr2:74231086-74231124	K562	blood:	n/a	n/a
10	BHLHE40	chr2:74231877-74232077	K562	blood:	n/a	n/a
11	BHLHE40	chr2:74229380-74229917	GM12878	blood:	n/a	chr2:74229743-74229759 chr2:74229824-74229840
12	BHLHE40	chr2:74229850-74229877	HepG2	liver:	n/a	n/a
13	BRCA1	chr2:74230466-74230509	H1-hESC	embryonic stem cell:	n/a	n/a
14	CCNT2	chr2:74231033-74231143	K562	blood:	n/a	n/a
15	CCNT2	chr2:74229529-74230091	K562	blood:	n/a	n/a
16	CCNT2	chr2:74232010-74232257	K562	blood:	n/a	n/a
17	CEBPB	chr2:74230255-74230421	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr2:74229815-74229858	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr2:74230663-74231009	K562	blood:	n/a	n/a
20	CEBPB	chr2:74230653-74231023	IMR90	lung:	n/a	n/a
21	CEBPD	chr2:74229535-74229884	HepG2	liver:	n/a	n/a
22	CHD1	chr2:74229653-74229967	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr2:74229628-74229769	K562	blood:	n/a	n/a
24	CHD2	chr2:74230179-74230521	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr2:74229443-74229945	GM12878	blood:	n/a	chr2:74229603-74229613
26	CHD2	chr2:74230318-74230445	K562	blood:	n/a	n/a
27	CREB1	chr2:74229485-74230109	HepG2	liver:	n/a	n/a
28	CTBP2	chr2:74229476-74230346	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr2:74231020-74231170	HPF	lung:	n/a	n/a
30	CTCF	chr2:74231060-74231210	AG10803	skin:	n/a	chr2:74231156-74231174 chr2:74231151-74231172
31	CTCF	chr2:74229727-74229926	GM19240	blood:	n/a	chr2:74229867-74229880 chr2:74229734-74229747 chr2:74229731-74229740 chr2:74229731-74229744
32	CTCF	chr2:74229780-74229930	AoAF	blood vessel:	n/a	chr2:74229867-74229880
33	CTCF	chr2:74229780-74229930	HMF	breast:	n/a	chr2:74229867-74229880
34	CTCF	chr2:74229500-74229650	HCPEpiC	choroid plexus:	n/a	chr2:74229526-74229539
35	CTCF	chr2:74229780-74229930	HCPEpiC	choroid plexus:	n/a	chr2:74229867-74229880
36	CTCF	chr2:74229840-74229990	SK-N-SH_RA	brain:	n/a	chr2:74229867-74229880
37	CTCF	chr2:74229480-74229630	GM12878	blood:	n/a	chr2:74229526-74229539
38	CTCF	chr2:74229360-74229510	GM12864	blood:	n/a	n/a
39	CTCF	chr2:74229660-74229810	SAEC	small airway:	n/a	chr2:74229734-74229747 chr2:74229731-74229740 chr2:74229731-74229744
40	CTCF	chr2:74229440-74229590	GM12866	blood:	n/a	chr2:74229526-74229539
41	CTCF	chr2:74229760-74229910	AG04449	skin:	n/a	chr2:74229867-74229880
42	CTCF	chr2:74229460-74229610	HCPEpiC	choroid plexus:	n/a	chr2:74229526-74229539
43	CTCF	chr2:74231128-74231217	ProgFib	skin:	n/a	chr2:74231156-74231174 chr2:74231151-74231172
44	CTCF	chr2:74229754-74229958	Pancreas_OC	pancreas:	n/a	chr2:74229867-74229880
45	CTCF	chr2:74229844-74229953	GM10266	blood:	n/a	chr2:74229867-74229880
46	CTCF	chr2:74229440-74229590	HPF	lung:	n/a	chr2:74229526-74229539
47	CTCF	chr2:74231040-74231190	AoAF	blood vessel:	n/a	chr2:74231156-74231174 chr2:74231151-74231172
48	CTCF	chr2:74229340-74229570	HRE	kidney:	n/a	chr2:74229526-74229539
49	CTCF	chr2:74229480-74229630	GM12867	blood:	n/a	chr2:74229526-74229539
50	CTCF	chr2:74229500-74229650	BJ	skin:	n/a	chr2:74229526-74229539

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:74229594-74229644	H1-hESC	embryonic stem cell:	embryo
2	chr2:74229594-74229644	H1-hESC	embryonic stem cell:	embryo
3	chr2:74231297-74231347	BE2_C	brain:	n/a
4	chr2:74231297-74231347	HUVEC	blood vessel:	n/a
5	chr2:74229775-74229825	Caco-2	colon:	n/a
6	chr2:74229824-74229874	AG04450	lung:	fetal
7	chr2:74231297-74231347	HNPCEpiC	eye:	n/a
8	chr2:74229594-74229644	AG10803	skin:	n/a
9	chr2:74229995-74230045	AG04450	lung:	fetal
10	chr2:74229775-74229825	SAEC	small airway:	n/a
11	chr2:74231297-74231347	IMR90	lung:	fetal
12	chr2:74229995-74230045	GM12892	blood:	n/a
13	chr2:74231297-74231347	GM06990	blood:	n/a
14	chr2:74231297-74231347	GM12891	blood:	n/a
15	chr2:74229775-74229825	HEK293	kidney:	embryo
16	chr2:74230310-74230360	HCF	heart:	n/a
17	chr2:74229995-74230045	A549	lung:	n/a
18	chr2:74229775-74229825	PANC-1	pancreas:	n/a
19	chr2:74229775-74229825	LNCaP	prostate:	n/a
20	chr2:74231297-74231347	T-47D	breast:	n/a
21	chr2:74230310-74230360	GM12892	blood:	n/a
22	chr2:74229995-74230045	GM06990	blood:	n/a
23	chr2:74229824-74229874	GM12892	blood:	n/a
24	chr2:74229775-74229825	U87	brain:	n/a
25	chr2:74229824-74229874	IMR90	lung:	fetal
26	chr2:74230310-74230360	AoSMC	blood vessel:	n/a
27	chr2:74229995-74230045	MCF-7	breast:	n/a
28	chr2:74229775-74229825	HRPEpiC	eye:	n/a
29	chr2:74229824-74229874	MCF-7	breast:	n/a
30	chr2:74229775-74229825	K562	blood:	n/a
31	chr2:74230310-74230360	HCPEpiC	choroid plexus:	n/a
32	chr2:74229594-74229644	HUVEC	blood vessel:	n/a
33	chr2:74229824-74229874	H1-hESC	embryonic stem cell:	embryo
34	chr2:74229775-74229825	BE2_C	brain:	n/a
35	chr2:74230310-74230360	HUVEC	blood vessel:	n/a
36	chr2:74229594-74229644	HepG2	liver:	n/a
37	chr2:74231297-74231347	GM12878	blood:	n/a
38	chr2:74230310-74230360	HMEC	breast:	n/a
39	chr2:74229824-74229874	AG04449	skin:	fetal
40	chr2:74229995-74230045	GM12878	blood:	n/a
41	chr2:74229995-74230045	SK-N-SH	brain:	n/a
42	chr2:74229594-74229644	GM06990	blood:	n/a
43	chr2:74229594-74229644	NH-A	brain:	n/a
44	chr2:74229824-74229874	PFSK-1	brain:	n/a
45	chr2:74231297-74231347	CMK	blood:	n/a
46	chr2:74229995-74230045	NT2-D1	testis:	n/a
47	chr2:74229995-74230045	SK-N-MC	brain:	n/a
48	chr2:74231297-74231347	HepG2	liver:	n/a
49	chr2:74230310-74230360	K562	blood:	n/a
50	chr2:74229594-74229644	GM19239	blood:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74153007..74155466-chr2:74228011..74231907,5	K562	blood:
2	chr2:74230315..74232342-chr2:74308990..74310979,2	K562	blood:
3	chr2:74229598..74231793-chr2:74423826..74425705,2	MCF-7	breast:
4	chr2:74152377..74154629-chr2:74231322..74233632,2	MCF-7	breast:
5	chr2:74054453..74058790-chr2:74226313..74230079,4	MCF-7	breast:
6	chr2:74156030..74157687-chr2:74228022..74229641,2	K562	blood:
7	chr2:74227509..74230131-chr2:74424857..74427331,4	MCF-7	breast:
8	chr2:74230868..74232942-chr2:74282306..74284674,2	K562	blood:
9	chr2:74225172..74227834-chr2:74230974..74232570,2	K562	blood:
10	chr2:74230957..74233519-chr2:74346140..74348157,2	K562	blood:
11	chr2:74227214..74229329-chr2:74244433..74246897,2	K562	blood:
12	chr2:74230663..74232784-chr2:74237198..74239379,3	K562	blood:
13	chr2:74153966..74155499-chr2:74229025..74232283,3	K562	blood:
14	chr2:74055799..74057566-chr2:74228295..74229864,2	MCF-7	breast:
15	chr2:74227468..74229424-chr2:74305762..74308272,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TET3-3	chr2:74229333-74230678	ucscGeneNc_uc002ske_2

No data

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

Extended variants
information (count: 83 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	rs561616454	chr2:74230131-74230132	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
28	rs377246960	chr2:74230174-74230175	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
29	rs375905318	chr2:74230175-74230176	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
30	rs528890881	chr2:74230307-74230308	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs142058377	chr2:74230311-74230312	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs550257775	chr2:74230324-74230325	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs185515634	chr2:74230340-74230341	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs188398261	chr2:74230411-74230412	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs570318933	chr2:74230549-74230550	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs200644253	chr2:74230568-74230569	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs552933139	chr2:74230595-74230596	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs10166357	chr2:74230656-74230657	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567097190	chr2:74230694-74230695	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs113351113	chr2:74230700-74230701	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs534390394	chr2:74230741-74230742	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs555870381	chr2:74230779-74230780	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs574010961	chr2:74230846-74230847	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs558658181	chr2:74230956-74230957	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs62150605	chr2:74230961-74230962	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs556258205	chr2:74230984-74230985	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs577189007	chr2:74230988-74230989	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs545729509	chr2:74231050-74231051	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs545093018	chr2:74231063-74231064	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs564020624	chr2:74231070-74231071	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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

Chromatin state (count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

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	chr2:74222600-74229200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr2:74222800-74229200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr2:74224000-74229200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:74224000-74229200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:74224000-74229400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:74224000-74230000	Enhancers	Fetal Brain Male	brain
10	chr2:74225400-74229200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:74225600-74229200	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:74225800-74229200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:74226000-74229200	Weak transcription	Brain Substantia Nigra	brain
14	chr2:74226000-74229200	Enhancers	Placenta	Placenta
15	chr2:74226000-74229400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:74226000-74229400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:74226200-74229200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:74226200-74229400	Enhancers	A549	lung
19	chr2:74226200-74232400	Weak transcription	Hela-S3	cervix
20	chr2:74226400-74229200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:74226400-74229200	Genic enhancers	Fetal Intestine Small	intestine
22	chr2:74226400-74229200	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr2:74226400-74229200	Enhancers	K562	blood
24	chr2:74226400-74229400	Enhancers	Fetal Intestine Large	intestine
25	chr2:74226400-74229400	Enhancers	Lung	lung
26	chr2:74226600-74229200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:74226600-74229200	Enhancers	Fetal Lung	lung
28	chr2:74226600-74229400	Enhancers	Esophagus	oesophagus
29	chr2:74226600-74229600	Enhancers	NHEK	skin
30	chr2:74226600-74229800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:74226800-74229200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:74226800-74229200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr2:74226800-74229200	Enhancers	Fetal Muscle Leg	muscle
34	chr2:74226800-74229400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:74226800-74229400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:74226800-74229400	Enhancers	Fetal Muscle Trunk	muscle
37	chr2:74226800-74229400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr2:74226800-74229400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr2:74226800-74229400	Enhancers	Right Ventricle	heart
40	chr2:74226800-74229600	Enhancers	HMEC	breast
41	chr2:74226800-74229800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:74227000-74229200	Enhancers	Adipose Nuclei	Adipose
43	chr2:74227000-74229400	Enhancers	Fetal Thymus	thymus
44	chr2:74227000-74229400	Enhancers	NHLF	lung
45	chr2:74227000-74229600	Enhancers	Spleen	Spleen
46	chr2:74227200-74229200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
47	chr2:74227200-74229200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:74227200-74229400	Enhancers	Left Ventricle	heart
49	chr2:74227200-74229400	Enhancers	Pancreas	Pancrea
50	chr2:74227200-74229600	Enhancers	Gastric	stomach

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