Variant report

Variant	esv3420180
Chromosome Location	chr2:172015931-172018479
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1112)
CpG islands
(count:549)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1112 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:172017310-172017431	K562	blood:	n/a	n/a
2	ARID3A	chr2:172016903-172016921	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:172017335-172017355	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:172017723-172018185	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:172014788-172016009	K562	blood:	n/a	n/a
6	ARID3A	chr2:172017730-172018767	K562	blood:	n/a	n/a
7	ARID3A	chr2:172015883-172016323	HepG2	liver:	n/a	n/a
8	ATF2	chr2:172015809-172016265	GM12878	blood:	n/a	n/a
9	ATF2	chr2:172017619-172018193	GM12878	blood:	n/a	n/a
10	ATF2	chr2:172016904-172017224	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr2:172017174-172017492	K562	blood:	n/a	chr2:172017415-172017435
12	BACH1	chr2:172017566-172017958	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr2:172015971-172016679	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr2:172016881-172017028	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr2:172017636-172018011	GM12878	blood:	n/a	n/a
16	BCL3	chr2:172016998-172017511	GM12878	blood:	n/a	chr2:172017415-172017424
17	BCL3	chr2:172015854-172016646	GM12878	blood:	n/a	chr2:172016408-172016417
18	BCL3	chr2:172017535-172017914	GM12878	blood:	n/a	chr2:172017872-172017881
19	BCLAF1	chr2:172015594-172016613	GM12878	blood:	n/a	chr2:172016408-172016417
20	BCLAF1	chr2:172016722-172017511	GM12878	blood:	n/a	chr2:172016991-172017004 chr2:172017415-172017424
21	BCLAF1	chr2:172016731-172017464	GM12878	blood:	n/a	chr2:172016991-172017004 chr2:172017415-172017424
22	BCLAF1	chr2:172015343-172016555	GM12878	blood:	n/a	chr2:172016408-172016417
23	BCLAF1	chr2:172017532-172018065	GM12878	blood:	n/a	chr2:172017872-172017881
24	BCLAF1	chr2:172017544-172018087	GM12878	blood:	n/a	chr2:172017872-172017881
25	BHLHE40	chr2:172017049-172017870	HepG2	liver:	n/a	n/a
26	BHLHE40	chr2:172016861-172018010	GM12878	blood:	n/a	chr2:172016968-172016984
27	BHLHE40	chr2:172015795-172016591	K562	blood:	n/a	n/a
28	BHLHE40	chr2:172016037-172016481	GM12878	blood:	n/a	n/a
29	BHLHE40	chr2:172016851-172017994	K562	blood:	n/a	chr2:172016968-172016984
30	BRCA1	chr2:172017236-172017848	GM12878	blood:	n/a	n/a
31	BRCA1	chr2:172017082-172017520	H1-hESC	embryonic stem cell:	n/a	n/a
32	BRCA1	chr2:172017769-172017963	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr2:172015734-172016121	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr2:172017251-172017956	HepG2	liver:	n/a	n/a
35	BRCA1	chr2:172017279-172017955	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr2:172015902-172016165	GM12878	blood:	n/a	n/a
37	CBX3	chr2:172017630-172018035	K562	blood:	n/a	n/a
38	CCNT2	chr2:172016276-172017925	K562	blood:	n/a	chr2:172016684-172016693 chr2:172017548-172017557 chr2:172017541-172017550 chr2:172016372-172016381
39	CCNT2	chr2:172018232-172018284	K562	blood:	n/a	n/a
40	CEBPB	chr2:172017256-172017443	HepG2	liver:	n/a	n/a
41	CEBPB	chr2:172017237-172017522	HepG2	liver:	n/a	n/a
42	CEBPB	chr2:172017261-172017513	A549	lung:	n/a	n/a
43	CEBPB	chr2:172017209-172017566	IMR90	lung:	n/a	n/a
44	CEBPB	chr2:172017240-172017528	K562	blood:	n/a	n/a
45	CEBPB	chr2:172017832-172018151	K562	blood:	n/a	n/a
46	CEBPB	chr2:172015869-172016250	K562	blood:	n/a	n/a
47	CEBPB	chr2:172015919-172017865	HepG2	liver:	n/a	n/a
48	CEBPB	chr2:172017938-172017965	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr2:172017247-172017875	Hela-S3	cervix:	n/a	n/a
50	CEBPD	chr2:172015903-172016742	HepG2	liver:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:172016876-172016926	GM06990	blood:	n/a
2	chr2:172016068-172016118	SK-N-MC	brain:	n/a
3	chr2:172017416-172017466	H1-hESC	embryonic stem cell:	embryo
4	chr2:172016605-172016655	K562	blood:	n/a
5	chr2:172016663-172016713	HAEpiC	amniotic membrane:	n/a
6	chr2:172017416-172017466	ECC-1	luminal epithelium:	n/a
7	chr2:172016068-172016118	HUVEC	blood vessel:	n/a
8	chr2:172016663-172016713	T-47D	breast:	n/a
9	chr2:172017767-172017817	HEK293	kidney:	embryo
10	chr2:172016663-172016713	HMEC	breast:	n/a
11	chr2:172017767-172017817	AG04450	lung:	fetal
12	chr2:172017432-172017482	K562	blood:	n/a
13	chr2:172016663-172016713	HepG2	liver:	n/a
14	chr2:172017928-172017978	SKMC	muscle:	n/a
15	chr2:172016605-172016655	ovcar-3	ovarian:	n/a
16	chr2:172017928-172017978	RPTEC	kidney:	n/a
17	chr2:172016605-172016655	PFSK-1	brain:	n/a
18	chr2:172017432-172017482	AG09309	skin:	n/a
19	chr2:172017928-172017978	NHBE	bronchial:	n/a
20	chr2:172017767-172017817	PrEC	prostate:	n/a
21	chr2:172017419-172017469	SK-N-MC	brain:	n/a
22	chr2:172016068-172016118	HIPEpiC	eye:	n/a
23	chr2:172016663-172016713	CMK	blood:	n/a
24	chr2:172016663-172016713	A549	lung:	n/a
25	chr2:172016068-172016118	AG04449	skin:	fetal
26	chr2:172017767-172017817	HCF	heart:	n/a
27	chr2:172017416-172017466	HRE	kidney:	n/a
28	chr2:172017928-172017978	HCPEpiC	choroid plexus:	n/a
29	chr2:172017416-172017466	HCM	heart:	n/a
30	chr2:172017419-172017469	HEEpiC	esophagus:	n/a
31	chr2:172017416-172017466	HPAEpiC	pulmonary alveolar:	n/a
32	chr2:172017928-172017978	HEEpiC	esophagus:	n/a
33	chr2:172017416-172017466	AG09319	gingival:	n/a
34	chr2:172017416-172017466	NHDF-neo	bronchial:	n/a
35	chr2:172016876-172016926	Jurkat	blood:	n/a
36	chr2:172017432-172017482	IMR90	lung:	fetal
37	chr2:172016876-172016926	HNPCEpiC	eye:	n/a
38	chr2:172017419-172017469	SKMC	muscle:	n/a
39	chr2:172017767-172017817	HRPEpiC	eye:	n/a
40	chr2:172016663-172016713	HCF	heart:	n/a
41	chr2:172016663-172016713	Hela-S3	cervix:	n/a
42	chr2:172016663-172016713	AG04450	lung:	fetal
43	chr2:172017419-172017469	SK-N-SH_RA	brain:	n/a
44	chr2:172016605-172016655	HCM	heart:	n/a
45	chr2:172017416-172017466	HRCEpiC	kidney:	n/a
46	chr2:172016663-172016713	U87	brain:	n/a
47	chr2:172017416-172017466	Caco-2	colon:	n/a
48	chr2:172016068-172016118	NH-A	brain:	n/a
49	chr2:172017767-172017817	GM12891	blood:	n/a
50	chr2:172016663-172016713	Jurkat	blood:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172014091..172018646-chr2:172288530..172293107,15	MCF-7	breast:
2	chr2:172017458..172020071-chr2:172021150..172023264,2	MCF-7	breast:
3	chr2:171940038..171942334-chr2:172013926..172015979,2	K562	blood:
4	chr2:172013226..172020125-chr2:172287594..172292844,18	MCF-7	breast:
5	chr2:172001492..172003805-chr2:172016771..172018907,2	MCF-7	breast:
6	chr1:115053337..115055398-chr2:172016775..172018686,2	MCF-7	breast:
7	chr2:171810266..171813832-chr2:172014832..172018055,4	K562	blood:
8	chr2:172016279..172018303-chr2:172948918..172950727,3	MCF-7	breast:
9	chr2:172013756..172019540-chr2:172285624..172293532,16	K562	blood:
10	chr2:171921242..171923665-chr2:172015920..172017690,2	MCF-7	breast:
11	chr2:172018366..172020201-chr2:172023352..172025377,2	MCF-7	breast:
12	chr2:172016272..172018929-chr2:172086731..172089635,2	MCF-7	breast:
13	chr1:149819814..149821730-chr2:172014247..172017009,2	K562	blood:
14	chr2:171784510..171786977-chr2:172014779..172017241,3	K562	blood:
15	chr2:171909667..171912073-chr2:172017809..172019890,2	K562	blood:
16	chr2:172002500..172008778-chr2:172012564..172018500,9	MCF-7	breast:
17	chr2:172015340..172019166-chr2:172288878..172291883,5	K562	blood:
18	chr14:75746333..75746970-chr2:172016967..172017600,2	Hela-S3	cervix:
19	chr2:172016551..172018471-chr6:20402143..20404906,2	K562	blood:
20	chr2:172016800..172018820-chr2:172378965..172381042,2	K562	blood:
21	chr18:12308206..12308971-chr2:172016511..172017011,2	Hela-S3	cervix:
22	chr2:171785349..171787069-chr2:172015224..172018585,4	MCF-7	breast:

No data

Variant related genes	Relation type
TLK1	TF binding region
TLK1	CpG island
ENSG00000071967	chromatin interactions
ENSG00000115806	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000144355	chromatin interactions
ENSG00000115827	chromatin interactions
ENSG00000197323	chromatin interactions
ENSG00000123600	chromatin interactions
ENSG00000261716	chromatin interactions
ENSG00000238567	chromatin interactions
ENSG00000198586	chromatin interactions
ENSG00000112242	chromatin interactions
ENSG00000176014	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562212857	chr2:172015966-172015967	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs528599262	chr2:172016000-172016001	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs187830440	chr2:172016050-172016051	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs369327096	chr2:172016059-172016060	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs547598542	chr2:172016093-172016094	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs559504619	chr2:172016116-172016117	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs151114496	chr2:172016174-172016175	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs533473544	chr2:172016190-172016191	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs551649448	chr2:172016194-172016195	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs189591561	chr2:172016203-172016204	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs570213927	chr2:172016206-172016207	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs537852069	chr2:172016214-172016215	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs549484052	chr2:172016223-172016224	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs568165542	chr2:172016295-172016296	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs115814130	chr2:172016317-172016318	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs554040452	chr2:172016354-172016355	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs74848223	chr2:172016397-172016398	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs539782444	chr2:172016403-172016404	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs558039057	chr2:172016452-172016453	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs576208355	chr2:172016487-172016488	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs149660581	chr2:172016541-172016542	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs543820859	chr2:172016547-172016548	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs369215587	chr2:172016580-172016581	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs555439701	chr2:172016627-172016628	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs573830515	chr2:172016641-172016642	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs112812793	chr2:172016654-172016655	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs559561876	chr2:172016694-172016695	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs3821085	chr2:172016717-172016718	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs377552379	chr2:172016728-172016729	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs545225410	chr2:172016729-172016730	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs57132809	chr2:172016735-172016736	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs113416007	chr2:172016756-172016757	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs550144397	chr2:172016767-172016768	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs531079606	chr2:172016790-172016791	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs549783547	chr2:172016793-172016794	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs368698147	chr2:172016801-172016802	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs568043874	chr2:172016845-172016846	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs145012528	chr2:172016862-172016863	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs371321077	chr2:172016877-172016878	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs147569979	chr2:172016932-172016933	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs371437717	chr2:172016968-172016969	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs374313103	chr2:172016970-172016971	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs370803642	chr2:172017033-172017034	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs565735445	chr2:172017040-172017041	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs539645604	chr2:172017079-172017080	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs557637464	chr2:172017081-172017082	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs569948304	chr2:172017112-172017113	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs536929316	chr2:172017119-172017120	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs182243854	chr2:172017133-172017134	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs377226371	chr2:172017171-172017172	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	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
Seminomas	18059402	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171990000-172016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172013800-172018200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:172013800-172018200	Active TSS	GM12878-XiMat	blood
4	chr2:172014000-172018200	Active TSS	K562	blood
5	chr2:172014000-172018800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:172014200-172018600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:172014400-172016200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:172014400-172018200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:172014400-172018200	Active TSS	HSMMtube	muscle
10	chr2:172014600-172016000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:172014600-172016000	Flanking Active TSS	HUVEC	blood vessel
12	chr2:172014600-172016400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:172014600-172018400	Active TSS	Stomach Smooth Muscle	stomach
14	chr2:172014600-172018600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:172014600-172018600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:172014600-172018600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:172014600-172018600	Active TSS	HMEC	breast
18	chr2:172014800-172016000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:172014800-172016000	Active TSS	Brain Germinal Matrix	brain
20	chr2:172014800-172016400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr2:172014800-172016400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:172014800-172018000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:172014800-172018200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:172014800-172018400	Active TSS	H1 Cell Line	embryonic stem cell
25	chr2:172014800-172018400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr2:172014800-172018400	Active TSS	HSMM	muscle
27	chr2:172015000-172016000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:172015000-172016000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr2:172015000-172016200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:172015000-172016400	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr2:172015000-172018000	Active TSS	Brain Anterior Caudate	brain
32	chr2:172015000-172018000	Active TSS	Osteobl	bone
33	chr2:172015000-172018200	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr2:172015000-172018200	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr2:172015000-172018200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:172015000-172018200	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr2:172015000-172018200	Active TSS	Fetal Kidney	kidney
38	chr2:172015000-172018200	Active TSS	Hela-S3	cervix
39	chr2:172015000-172018400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:172015000-172018400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:172015000-172018400	Active TSS	Brain Cingulate Gyrus	brain
42	chr2:172015000-172018400	Active TSS	Colon Smooth Muscle	Colon
43	chr2:172015000-172018400	Active TSS	Fetal Brain Male	brain
44	chr2:172015000-172018400	Active TSS	NHLF	lung
45	chr2:172015200-172016400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr2:172015200-172017800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:172015200-172018000	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr2:172015200-172018000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:172015200-172018200	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr2:172015200-172018200	Active TSS	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links