Variant report

Variant	esv3344542
Chromosome Location	chr1:223899354-223901902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:605)
CpG islands
(count:735)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:605 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:223900023-223900206	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:223899721-223900339	K562	blood:	n/a	n/a
3	ATF3	chr1:223899970-223900553	A549	lung:	n/a	chr1:223900268-223900277
4	ATF3	chr1:223899947-223900362	K562	blood:	n/a	chr1:223900268-223900277
5	ATF3	chr1:223899542-223900397	K562	blood:	n/a	chr1:223900268-223900277
6	BACH1	chr1:223900029-223900290	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr1:223899645-223900648	K562	blood:	n/a	chr1:223900249-223900265 chr1:223900040-223900056 chr1:223900238-223900254 chr1:223900246-223900262
8	BRCA1	chr1:223899766-223900073	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr1:223899930-223899939	HepG2	liver:	n/a	n/a
10	BRCA1	chr1:223901639-223902095	Hela-S3	cervix:	n/a	n/a
11	CBX3	chr1:223899367-223900587	K562	blood:	n/a	n/a
12	CBX3	chr1:223899494-223899941	K562	blood:	n/a	n/a
13	CBX3	chr1:223900611-223901072	K562	blood:	n/a	n/a
14	CCNT2	chr1:223899848-223901156	K562	blood:	n/a	n/a
15	CEBPB	chr1:223899733-223900344	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr1:223900374-223900479	K562	blood:	n/a	n/a
17	CHD1	chr1:223899925-223900497	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr1:223900083-223900414	GM12878	blood:	n/a	n/a
19	CHD2	chr1:223901251-223901811	K562	blood:	n/a	n/a
20	CHD2	chr1:223900806-223901034	K562	blood:	n/a	n/a
21	CHD2	chr1:223899702-223900585	K562	blood:	n/a	n/a
22	CHD2	chr1:223899833-223900118	HepG2	liver:	n/a	n/a
23	CHD2	chr1:223899795-223900565	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr1:223901306-223901620	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr1:223900798-223900921	Hela-S3	cervix:	n/a	n/a
26	CREB1	chr1:223899807-223900684	A549	lung:	n/a	n/a
27	CTBP2	chr1:223899897-223901012	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr1:223899963-223900196	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr1:223899946-223900228	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr1:223900000-223900150	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr1:223900300-223900450	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr1:223900360-223900458	GM12878	blood:	n/a	n/a
33	CTCF	chr1:223899838-223900451	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr1:223900000-223900150	GM12867	blood:	n/a	n/a
35	CTCF	chr1:223900800-223900950	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr1:223900020-223900170	WI-38	lung:	n/a	n/a
37	CTCF	chr1:223899980-223900130	AG09309	skin:	n/a	n/a
38	CTCF	chr1:223899740-223899890	HCM	heart:	n/a	n/a
39	CTCF	chr1:223899960-223900110	AG10803	skin:	n/a	n/a
40	CTCF	chr1:223899997-223900141	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr1:223900424-223900440	GM10248	blood:	n/a	n/a
42	CTCF	chr1:223899580-223899730	GM12873	blood:	n/a	n/a
43	CTCF	chr1:223900020-223900170	RPTEC	kidney:	n/a	n/a
44	CTCF	chr1:223900000-223900150	NHLF	lung:	n/a	n/a
45	CTCF	chr1:223900020-223900170	HMEC	breast:	n/a	n/a
46	CTCF	chr1:223900240-223900390	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr1:223899960-223900110	BJ	skin:	n/a	n/a
48	CTCF	chr1:223899960-223900110	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr1:223899960-223900110	AG09319	gingival:	n/a	n/a
50	CTCF	chr1:223899940-223900090	GM06990	blood:	n/a	n/a

(count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:223899845-223899895	GM19239	blood:	n/a
2	chr1:223901187-223901237	MCF10A-Er-Src	breast:	n/a
3	chr1:223900468-223900518	LNCaP	prostate:	n/a
4	chr1:223899845-223899895	GM19239	blood:	n/a
5	chr1:223901187-223901237	MCF10A-Er-Src	breast:	n/a
6	chr1:223900468-223900518	LNCaP	prostate:	n/a
7	chr1:223899853-223899903	MCF-7	breast:	n/a
8	chr1:223899998-223900048	Caco-2	colon:	n/a
9	chr1:223899746-223899796	K562	blood:	n/a
10	chr1:223899991-223900041	RPTEC	kidney:	n/a
11	chr1:223899746-223899796	SK-N-MC	brain:	n/a
12	chr1:223900693-223900743	HRE	kidney:	n/a
13	chr1:223899845-223899895	Hela-S3	cervix:	n/a
14	chr1:223899998-223900048	LNCaP	prostate:	n/a
15	chr1:223901187-223901237	HEEpiC	esophagus:	n/a
16	chr1:223899853-223899903	K562	blood:	n/a
17	chr1:223900693-223900743	HCM	heart:	n/a
18	chr1:223899736-223899786	HAEpiC	amniotic membrane:	n/a
19	chr1:223899845-223899895	SKMC	muscle:	n/a
20	chr1:223899685-223899735	GM12891	blood:	n/a
21	chr1:223900822-223900872	HIPEpiC	eye:	n/a
22	chr1:223899736-223899786	AoSMC	blood vessel:	n/a
23	chr1:223900822-223900872	SK-N-MC	brain:	n/a
24	chr1:223899991-223900041	SAEC	small airway:	n/a
25	chr1:223900438-223900488	CMK	blood:	n/a
26	chr1:223900438-223900488	BJ	skin:	n/a
27	chr1:223900693-223900743	HL-60	blood:	n/a
28	chr1:223900822-223900872	H1-hESC	embryonic stem cell:	embryo
29	chr1:223899845-223899895	RPTEC	kidney:	n/a
30	chr1:223899845-223899895	CMK	blood:	n/a
31	chr1:223900438-223900488	AG09319	gingival:	n/a
32	chr1:223900693-223900743	HepG2	liver:	n/a
33	chr1:223900438-223900488	Caco-2	colon:	n/a
34	chr1:223899853-223899903	BE2_C	brain:	n/a
35	chr1:223899736-223899786	GM12878	blood:	n/a
36	chr1:223900693-223900743	MCF-7	breast:	n/a
37	chr1:223899991-223900041	HCM	heart:	n/a
38	chr1:223899845-223899895	SAEC	small airway:	n/a
39	chr1:223899845-223899895	AG09319	gingival:	n/a
40	chr1:223899853-223899903	HPAEpiC	pulmonary alveolar:	n/a
41	chr1:223899736-223899786	H1-hESC	embryonic stem cell:	embryo
42	chr1:223899853-223899903	T-47D	breast:	n/a
43	chr1:223900438-223900488	PANC-1	pancreas:	n/a
44	chr1:223899853-223899903	HCF	heart:	n/a
45	chr1:223899685-223899735	AoSMC	blood vessel:	n/a
46	chr1:223899998-223900048	HL-60	blood:	n/a
47	chr1:223899853-223899903	Jurkat	blood:	n/a
48	chr1:223899991-223900041	PANC-1	pancreas:	n/a
49	chr1:223900822-223900872	SK-N-SH	brain:	n/a
50	chr1:223899991-223900041	ovcar-3	ovarian:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223900439..223903816-chr1:223918326..223920507,3	MCF-7	breast:
2	chr1:223899719..223902673-chr1:224516675..224518721,2	K562	blood:
3	chr1:223901424..223903659-chr1:224301052..224303387,3	K562	blood:
4	chr1:223901364..223903173-chr1:224031869..224034439,2	K562	blood:
5	chr1:223901244..223903074-chr1:224621960..224624897,2	K562	blood:
6	chr1:223887434..223890501-chr1:223901110..223904266,3	K562	blood:
7	chr1:223901494..223903169-chr1:223928356..223930429,2	MCF-7	breast:
8	chr1:223899719..223901460-chr1:224517221..224519970,2	K562	blood:
9	chr1:223884407..223886063-chr1:223901694..223904527,2	K562	blood:
10	chr1:223900176..223902216-chr1:223970691..223973184,2	MCF-7	breast:
11	chr1:223900203..223902153-chr1:223927273..223928993,2	K562	blood:
12	chr1:223900203..223901722-chr1:223926667..223928773,2	K562	blood:
13	chr1:223899965..223900475-chr5:77655637..77656578,2	Hela-S3	cervix:
14	chr1:223900140..223900711-chr19:13263508..13264391,2	Hela-S3	cervix:
15	chr1:223901725..223903941-chr1:223941728..223943865,2	MCF-7	breast:
16	chr1:223901394..223904242-chr1:223919607..223921227,2	K562	blood:
17	chr1:223886668..223890344-chr1:223897746..223900327,3	K562	blood:
18	chr1:223900420..223902460-chr1:224007560..224009954,2	K562	blood:
19	chr1:223900092..223902158-chr1:223929992..223931627,2	K562	blood:
20	chr1:223897577..223900459-chr1:223900975..223902562,2	MCF-7	breast:
21	chr1:223898558..223902031-chr1:223957339..223960421,3	K562	blood:
22	chr1:223885961..223896993-chr1:223898177..223910405,32	MCF-7	breast:
23	chr1:223900680..223901441-chr10:134145170..134146133,2	Hela-S3	cervix:
24	chr1:223897551..223903480-chr1:224031634..224036730,7	K562	blood:
25	chr1:223900571..223903093-chr1:223940555..223942413,2	K562	blood:
26	chr1:223899985..223900593-chr9:131873619..131874256,2	Hela-S3	cervix:
27	chr1:223898558..223902080-chr1:223957242..223958839,3	K562	blood:
28	chr1:223882393..223884567-chr1:223898139..223900023,2	MCF-7	breast:
29	chr1:223900402..223903093-chr1:223939885..223943104,3	K562	blood:
30	chr1:155022792..155023626-chr1:223900625..223901256,2	Hela-S3	cervix:
31	chr1:223897059..223902247-chr1:223935403..223939761,6	K562	blood:

No data

Variant related genes	Relation type
CAPN2	TF binding region
CAPN2	CpG island
ENSG00000162909	chromatin interactions
ENSG00000245556	chromatin interactions
ENSG00000143748	chromatin interactions
ENSG00000143514	chromatin interactions
ENSG00000148814	chromatin interactions
ENSG00000143786	chromatin interactions
ENSG00000162923	chromatin interactions
ENSG00000119383	chromatin interactions
ENSG00000165752	chromatin interactions
ENSG00000143537	chromatin interactions
ENSG00000143756	chromatin interactions
ENSG00000085365	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146992255	chr1:223899368-223899369	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs529203462	chr1:223899391-223899392	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs373694433	chr1:223899409-223899410	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs1892076	chr1:223899417-223899418	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs111548683	chr1:223899425-223899426	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs551353057	chr1:223899448-223899449	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs115853414	chr1:223899467-223899468	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs141000450	chr1:223899480-223899481	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs4233224	chr1:223899518-223899519	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs191257734	chr1:223899530-223899531	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs567830565	chr1:223899555-223899556	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs28370003	chr1:223899559-223899560	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs538197148	chr1:223899578-223899579	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs28370004	chr1:223899582-223899583	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571562072	chr1:223899694-223899695	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs77566879	chr1:223899736-223899737	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs553718533	chr1:223899756-223899757	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs572473144	chr1:223899793-223899794	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs184081435	chr1:223899795-223899796	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs28370005	chr1:223899809-223899810	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs368579108	chr1:223899897-223899898	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs28370006	chr1:223899898-223899899	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs573774301	chr1:223900035-223900036	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs544028446	chr1:223900096-223900097	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs111589205	chr1:223900098-223900099	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs2154114	chr1:223900130-223900131	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577972410	chr1:223900171-223900172	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs545043821	chr1:223900185-223900186	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs560168927	chr1:223900194-223900195	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs138727686	chr1:223900252-223900253	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs545286774	chr1:223900282-223900283	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs2186007	chr1:223900330-223900331	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs60663921	chr1:223900332-223900333	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs375899944	chr1:223900358-223900359	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs549053447	chr1:223900375-223900376	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs2275879	chr1:223900387-223900388	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs25655	chr1:223900408-223900409	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs549923241	chr1:223900410-223900411	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs571626275	chr1:223900412-223900413	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs538920789	chr1:223900420-223900421	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs369686010	chr1:223900436-223900437	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs139934619	chr1:223900443-223900444	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs149853702	chr1:223900459-223900460	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs149361972	chr1:223900465-223900466	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs28370007	chr1:223900474-223900475	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs28370008	chr1:223900486-223900487	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs576417116	chr1:223900509-223900510	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs146572729	chr1:223900511-223900512	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs202121109	chr1:223900533-223900534	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs2230083	chr1:223900544-223900545	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223889000-223900000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:223892200-223899800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:223893400-223899600	Weak transcription	Fetal Kidney	kidney
4	chr1:223894000-223899800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:223894000-223899800	Enhancers	Fetal Intestine Large	intestine
6	chr1:223895400-223899400	Weak transcription	Brain Angular Gyrus	brain
7	chr1:223895600-223899400	Weak transcription	Esophagus	oesophagus
8	chr1:223895600-223899600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:223895600-223899600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:223895600-223899800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:223895800-223899400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:223895800-223899600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:223895800-223899600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:223895800-223899600	Weak transcription	Brain Anterior Caudate	brain
15	chr1:223895800-223899600	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:223895800-223899600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:223895800-223899600	Weak transcription	Right Ventricle	heart
18	chr1:223895800-223899600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:223896000-223899400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:223896000-223899400	Weak transcription	Pancreas	Pancrea
21	chr1:223896000-223899600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:223896000-223899600	Weak transcription	Aorta	Aorta
23	chr1:223896000-223899600	Weak transcription	Colonic Mucosa	Colon
24	chr1:223896000-223899600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:223896000-223899600	Weak transcription	Ovary	ovary
26	chr1:223896000-223899800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:223896000-223899800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:223896000-223899800	Weak transcription	Left Ventricle	heart
29	chr1:223896000-223899800	Weak transcription	Psoas Muscle	Psoas
30	chr1:223896000-223900000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:223896000-223900200	Weak transcription	Small Intestine	intestine
32	chr1:223896200-223899600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:223896800-223899800	Weak transcription	Placenta	Placenta
34	chr1:223897000-223899400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:223897000-223899600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:223897000-223899600	Weak transcription	HSMM	muscle
37	chr1:223897000-223899600	Weak transcription	HSMMtube	muscle
38	chr1:223897200-223900000	Weak transcription	Lung	lung
39	chr1:223897600-223899800	Enhancers	Fetal Intestine Small	intestine
40	chr1:223897600-223899800	Enhancers	Fetal Lung	lung
41	chr1:223897600-223900200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:223898000-223899600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:223898200-223899400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr1:223898200-223899600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr1:223898200-223899600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr1:223898400-223899600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr1:223898400-223899800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:223898600-223899400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr1:223898600-223899400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr1:223898600-223899600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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