Variant report

Variant	nsv1067914
Chromosome Location	chr1:209955818-209972979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:709)
CpG islands
(count:1099)
Chromatin interactive
region (count:48)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:709 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:209957683-209958314	K562	blood:	n/a	n/a
2	ATF1	chr1:209964314-209964451	K562	blood:	n/a	n/a
3	ATF2	chr1:209957579-209958367	GM12878	blood:	n/a	n/a
4	ATF2	chr1:209957633-209958519	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr1:209957469-209958435	GM12878	blood:	n/a	n/a
6	ATF2	chr1:209957556-209958343	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr1:209957616-209958135	A549	lung:	n/a	chr1:209957944-209957955 chr1:209957945-209957956 chr1:209957942-209957955 chr1:209957942-209957955 chr1:209957944-209957952 chr1:209957942-209957952 chr1:209957945-209957955 chr1:209957942-209957952 chr1:209957945-209957953 chr1:209957941-209957956 chr1:209957945-209957952 chr1:209957943-209957954 chr1:209957944-209957964 chr1:209957943-209957954
8	ATF3	chr1:209957648-209958313	A549	lung:	n/a	chr1:209957944-209957955 chr1:209957945-209957956 chr1:209957942-209957955 chr1:209957942-209957955 chr1:209957944-209957952 chr1:209957942-209957952 chr1:209957945-209957955 chr1:209957942-209957952 chr1:209957945-209957953 chr1:209957941-209957956 chr1:209957945-209957952 chr1:209957943-209957954 chr1:209957944-209957964 chr1:209957943-209957954
9	ATF3	chr1:209957677-209958179	K562	blood:	n/a	chr1:209957944-209957955 chr1:209957945-209957956 chr1:209957942-209957955 chr1:209957942-209957955 chr1:209957944-209957952 chr1:209957942-209957952 chr1:209957945-209957955 chr1:209957942-209957952 chr1:209957945-209957953 chr1:209957941-209957956 chr1:209957945-209957952 chr1:209957943-209957954 chr1:209957944-209957964 chr1:209957943-209957954
10	BACH1	chr1:209957609-209958583	K562	blood:	n/a	n/a
11	BACH1	chr1:209957488-209958303	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr1:209957508-209958373	A549	lung:	n/a	chr1:209958008-209958017
13	BCL3	chr1:209957509-209958320	A549	lung:	n/a	chr1:209958008-209958017
14	BCLAF1	chr1:209957553-209958530	GM12878	blood:	n/a	chr1:209958008-209958017
15	BCLAF1	chr1:209957603-209958359	GM12878	blood:	n/a	chr1:209958008-209958017
16	BHLHE40	chr1:209957542-209958524	K562	blood:	n/a	n/a
17	BHLHE40	chr1:209957665-209958449	GM12878	blood:	n/a	n/a
18	BRCA1	chr1:209957435-209958264	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr1:209957501-209958507	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr1:209957778-209958122	HepG2	liver:	n/a	n/a
21	BRCA1	chr1:209957676-209958227	GM12878	blood:	n/a	n/a
22	CBX3	chr1:209957812-209958587	K562	blood:	n/a	n/a
23	CBX3	chr1:209957472-209958679	K562	blood:	n/a	chr1:209957492-209957503
24	CCNT2	chr1:209957728-209958221	K562	blood:	n/a	n/a
25	CCNT2	chr1:209970165-209970400	K562	blood:	n/a	n/a
26	CEBPB	chr1:209957719-209958284	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr1:209957481-209958479	GM12878	blood:	n/a	n/a
28	CEBPB	chr1:209957784-209958235	K562	blood:	n/a	n/a
29	CEBPB	chr1:209957686-209958255	K562	blood:	n/a	n/a
30	CEBPB	chr1:209957783-209958233	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPD	chr1:209957595-209958337	K562	blood:	n/a	n/a
32	CHD1	chr1:209957396-209957526	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr1:209957394-209958582	K562	blood:	n/a	n/a
34	CHD2	chr1:209957620-209958301	HepG2	liver:	n/a	n/a
35	CHD2	chr1:209957576-209958515	GM12878	blood:	n/a	n/a
36	CHD2	chr1:209956964-209957011	K562	blood:	n/a	n/a
37	CHD2	chr1:209957487-209958445	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr1:209957610-209958341	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr1:209957527-209958477	GM12878	blood:	n/a	chr1:209957942-209957955
40	CREB1	chr1:209957473-209958637	GM12878	blood:	n/a	chr1:209957942-209957955
41	CREB1	chr1:209957591-209958302	A549	lung:	n/a	chr1:209957942-209957955
42	CREB1	chr1:209957599-209958512	H1-hESC	embryonic stem cell:	n/a	chr1:209957942-209957955
43	CREB1	chr1:209957610-209958282	ECC-1	luminal epithelium:	n/a	chr1:209957942-209957955
44	CREB1	chr1:209957621-209958438	HepG2	liver:	n/a	chr1:209957942-209957955
45	CREB1	chr1:209957747-209958179	A549	lung:	n/a	chr1:209957942-209957955
46	CREB1	chr1:209957676-209958285	ECC-1	luminal epithelium:	n/a	chr1:209957942-209957955
47	CREB1	chr1:209957567-209958482	K562	blood:	n/a	chr1:209957942-209957955
48	CREB1	chr1:209957438-209958540	K562	blood:	n/a	chr1:209957942-209957955
49	CREB1	chr1:209957664-209958342	H1-hESC	embryonic stem cell:	n/a	chr1:209957942-209957955
50	CREB1	chr1:209957665-209958408	HepG2	liver:	n/a	chr1:209957942-209957955

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:209957965-209958015	NB4	blood:	n/a
2	chr1:209957965-209958015	NB4	blood:	n/a
3	chr1:209957618-209957668	AoSMC	blood vessel:	n/a
4	chr1:209963840-209963890	PrEC	prostate:	n/a
5	chr1:209957739-209957789	HRE	kidney:	n/a
6	chr1:209957974-209958024	HepG2	liver:	n/a
7	chr1:209958030-209958080	HIPEpiC	eye:	n/a
8	chr1:209958343-209958393	LNCaP	prostate:	n/a
9	chr1:209961872-209961922	HUVEC	blood vessel:	n/a
10	chr1:209957974-209958024	HIPEpiC	eye:	n/a
11	chr1:209958030-209958080	GM19239	blood:	n/a
12	chr1:209963840-209963890	LNCaP	prostate:	n/a
13	chr1:209957750-209957800	PANC-1	pancreas:	n/a
14	chr1:209957618-209957668	Hela-S3	cervix:	n/a
15	chr1:209958030-209958080	AG04450	lung:	fetal
16	chr1:209957965-209958015	HMEC	breast:	n/a
17	chr1:209961872-209961922	CMK	blood:	n/a
18	chr1:209963840-209963890	SK-N-SH_RA	brain:	n/a
19	chr1:209957601-209957651	SAEC	small airway:	n/a
20	chr1:209957652-209957702	HEK293	kidney:	embryo
21	chr1:209958343-209958393	HIPEpiC	eye:	n/a
22	chr1:209963087-209963137	U87	brain:	n/a
23	chr1:209957739-209957789	ovcar-3	ovarian:	n/a
24	chr1:209957750-209957800	Hepatocyte	liver:	n/a
25	chr1:209958185-209958235	GM06990	blood:	n/a
26	chr1:209956565-209956615	GM12892	blood:	n/a
27	chr1:209958026-209958076	ProgFib	skin:	n/a
28	chr1:209961872-209961922	GM19239	blood:	n/a
29	chr1:209956950-209957000	HNPCEpiC	eye:	n/a
30	chr1:209957974-209958024	NHBE	bronchial:	n/a
31	chr1:209963840-209963890	HIPEpiC	eye:	n/a
32	chr1:209957739-209957789	PFSK-1	brain:	n/a
33	chr1:209956950-209957000	HCPEpiC	choroid plexus:	n/a
34	chr1:209957974-209958024	SK-N-SH	brain:	n/a
35	chr1:209958030-209958080	RPTEC	kidney:	n/a
36	chr1:209958030-209958080	AoSMC	blood vessel:	n/a
37	chr1:209963087-209963137	ovcar-3	ovarian:	n/a
38	chr1:209958162-209958212	ProgFib	skin:	n/a
39	chr1:209963087-209963137	NHBE	bronchial:	n/a
40	chr1:209958035-209958085	SK-N-MC	brain:	n/a
41	chr1:209957601-209957651	BE2_C	brain:	n/a
42	chr1:209957618-209957668	HL-60	blood:	n/a
43	chr1:209961872-209961922	HL-60	blood:	n/a
44	chr1:209956565-209956615	BJ	skin:	n/a
45	chr1:209963840-209963890	PFSK-1	brain:	n/a
46	chr1:209957974-209958024	HPAEpiC	pulmonary alveolar:	n/a
47	chr1:209963840-209963890	K562	blood:	n/a
48	chr1:209963087-209963137	HCPEpiC	choroid plexus:	n/a
49	chr1:209958035-209958085	GM06990	blood:	n/a
50	chr1:209963840-209963890	BJ	skin:	n/a

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:209963821..209966213-chr1:209966523..209968163,2	MCF-7	breast:
2	chr1:209963000..209964602-chr1:209967269..209969654,2	K562	blood:
3	chr1:209957266..209960368-chr1:209964452..209967778,3	MCF-7	breast:
4	chr1:209954505..209956563-chr1:209958183..209960148,2	K562	blood:
5	chr1:209957348..209959526-chr1:209965730..209967837,2	K562	blood:
6	chr1:209961943..209965694-chr1:209969094..209971510,3	K562	blood:
7	chr1:209957965..209959806-chr1:209959959..209962744,2	K562	blood:
8	chr1:209961819..209963516-chr1:209999792..210001663,2	K562	blood:
9	chr1:209955222..209959394-chr1:210545816..210547914,4	K562	blood:
10	chr1:209967414..209971362-chr1:209996696..210001970,5	MCF-7	breast:
11	chr1:209957470..209958337-chr20:54967247..54968022,2	Hela-S3	cervix:
12	chr1:209955696..209959066-chr1:209962236..209965096,3	K562	blood:
13	chr1:209958606..209961246-chr1:209973550..209976119,2	MCF-7	breast:
14	chr1:209955602..209959674-chr1:209962858..209967873,6	MCF-7	breast:
15	chr1:209955520..209962214-chr1:209976009..209982555,8	K562	blood:
16	chr1:209940429..209942619-chr1:209957623..209959222,2	MCF-7	breast:
17	chr1:209970799..209973393-chr1:209981570..209983608,2	K562	blood:
18	chr1:209953015..209954990-chr1:209956352..209958315,2	MCF-7	breast:
19	chr1:209954399..209956563-chr1:209957596..209960148,3	K562	blood:
20	chr1:28975040..28975849-chr1:209957310..209958006,2	Hela-S3	cervix:
21	chr1:209957820..209958586-chr4:100871003..100871812,2	Hela-S3	cervix:
22	chr1:209961589..209964126-chr1:209977817..209980811,2	MCF-7	breast:
23	chr1:209957348..209959526-chr1:209965730..209967837,2	K562	blood:
24	chr1:209955602..209959674-chr1:209962858..209967873,6	MCF-7	breast:
25	chr1:209957393..209958342-chr17:56736402..56737021,2	Hela-S3	cervix:
26	chr1:209947385..209948947-chr1:209955247..209957526,2	MCF-7	breast:
27	chr1:209946631..209949857-chr1:209956266..209959109,3	MCF-7	breast:
28	chr1:209957410..209957938-chr15:44828799..44829767,2	Hela-S3	cervix:
29	chr1:209956517..209958141-chr1:209999783..210001469,2	MCF-7	breast:
30	chr1:209957266..209960368-chr1:209964452..209967778,3	MCF-7	breast:
31	chr1:209950429..209953463-chr1:209956092..209959569,7	K562	blood:
32	chr1:209954505..209956563-chr1:209958183..209960148,2	K562	blood:
33	chr1:209956612..209959583-chr1:209971561..209974310,2	MCF-7	breast:
34	chr1:209935010..209937588-chr1:209955355..209957792,2	K562	blood:
35	chr1:209956959..209959744-chr1:209961355..209963710,2	MCF-7	breast:
36	chr1:209956289..209959543-chr1:209978892..209981541,4	K562	blood:
37	chr1:209969439..209971872-chr1:209988283..209991092,2	MCF-7	breast:
38	chr1:209970042..209972449-chr1:209978125..209979735,2	K562	blood:
39	chr1:209802370..209804993-chr1:209955747..209957464,2	K562	blood:
40	chr1:209940844..209943415-chr1:209955888..209958090,3	K562	blood:
41	chr1:209955222..209958022-chr1:210545930..210547914,2	K562	blood:
42	chr1:209963000..209964602-chr1:209967269..209969654,2	K562	blood:
43	chr1:209957184..209957885-chr19:47291566..47292284,2	NB4	blood:
44	chr1:209921622..209924785-chr1:209954989..209957828,3	MCF-7	breast:
45	chr1:209945724..209947520-chr1:209953789..209956019,2	K562	blood:
46	chr1:209957462..209959935-chr1:209968588..209972462,3	K562	blood:
47	chr1:209961943..209965694-chr1:209969094..209971510,3	K562	blood:
48	chr1:209968649..209970778-chr1:209979506..209982286,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf74-1	chr1:209960324-209960799	ENSG00000232222.1
2	lnc-C1orf74-1	chr1:209960924-209961038	ENSG00000232222.1

No data

Variant related genes	Relation type
C1orf74	TF binding region
IRF6	TF binding region
ENSG00000232222	TF binding region
C1orf74	CpG island
IRF6	CpG island
ENSG00000232222	CpG island
ENSG00000179523	chromatin interactions
ENSG00000087586	chromatin interactions
ENSG00000117597	chromatin interactions
ENSG00000117595	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000101138	chromatin interactions
ENSG00000104131	chromatin interactions
ENSG00000245322	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000105281	chromatin interactions
ENSG00000009790	chromatin interactions
ENSG00000232222	chromatin interactions
ENSG00000162757	chromatin interactions
ENSG00000270103	chromatin interactions

Extended variants
information (count: 634 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:634 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs651141	chr1:209955848-209955849	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546192494	chr1:209955881-209955882	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs558213359	chr1:209955933-209955934	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs114937059	chr1:209955943-209955944	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs145674628	chr1:209955967-209955968	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs562702510	chr1:209955994-209955995	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs529807748	chr1:209956021-209956022	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs542021007	chr1:209956064-209956065	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs148900804	chr1:209956168-209956169	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs150951869	chr1:209956186-209956187	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs139839064	chr1:209956198-209956199	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs527606918	chr1:209956200-209956201	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs368366382	chr1:209956317-209956318	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs551739334	chr1:209956324-209956325	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs140409380	chr1:209956363-209956364	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs371795195	chr1:209956364-209956365	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs145007795	chr1:209956378-209956379	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs149080977	chr1:209956381-209956382	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs201328833	chr1:209956382-209956383	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs141586492	chr1:209956399-209956400	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs138246139	chr1:209956402-209956403	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs142492768	chr1:209956424-209956425	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs144114068	chr1:209956426-209956427	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs139871780	chr1:209956439-209956440	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs369345992	chr1:209956446-209956447	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs540154514	chr1:209956470-209956471	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs371501062	chr1:209956507-209956508	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs7550857	chr1:209956542-209956543	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs142724509	chr1:209956563-209956564	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs573391322	chr1:209956611-209956612	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs568157466	chr1:209956615-209956616	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs535640657	chr1:209956703-209956704	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs375785535	chr1:209956725-209956726	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs140853587	chr1:209956756-209956757	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs202046555	chr1:209956796-209956797	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs145543961	chr1:209956800-209956801	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs370094463	chr1:209956809-209956810	Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs374424579	chr1:209956877-209956878	Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs199509041	chr1:209956885-209956886	Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs540172451	chr1:209956910-209956911	Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs141648318	chr1:209956937-209956938	Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs142331130	chr1:209956951-209956952	Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs187773705	chr1:209957005-209957006	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs190909964	chr1:209957072-209957073	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs113581859	chr1:209957101-209957102	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs555541836	chr1:209957137-209957138	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs183234598	chr1:209957151-209957152	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs541635065	chr1:209957205-209957206	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs559949478	chr1:209957280-209957281	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs368296099	chr1:209957294-209957295	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
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
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	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
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD

Chromatin state (count:876 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209942800-209956800	Weak transcription	Small Intestine	intestine
2	chr1:209942800-209957200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:209943600-209956600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:209943800-209956600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:209943800-209956600	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:209943800-209957000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:209943800-209957200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:209944000-209956000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:209944000-209956600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:209944800-209956600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:209944800-209956600	Weak transcription	Right Ventricle	heart
12	chr1:209945000-209956000	Weak transcription	Brain Anterior Caudate	brain
13	chr1:209945000-209956400	Weak transcription	Left Ventricle	heart
14	chr1:209945000-209956600	Weak transcription	Adipose Nuclei	Adipose
15	chr1:209945000-209956600	Weak transcription	Brain Angular Gyrus	brain
16	chr1:209945000-209956600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:209945000-209956600	Weak transcription	Esophagus	oesophagus
18	chr1:209945000-209956600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:209945000-209956800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:209945000-209956800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:209945200-209956600	Weak transcription	Colonic Mucosa	Colon
22	chr1:209945200-209956600	Weak transcription	Pancreas	Pancrea
23	chr1:209945200-209957200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:209945400-209956400	Weak transcription	Lung	lung
25	chr1:209945600-209956400	Weak transcription	Gastric	stomach
26	chr1:209945600-209956600	Weak transcription	Fetal Lung	lung
27	chr1:209945800-209956600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:209946000-209956000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:209946000-209956600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:209946000-209956600	Strong transcription	Fetal Thymus	thymus
31	chr1:209946200-209956600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:209946400-209956000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:209946400-209956800	Strong transcription	Primary hematopoietic stem cells	blood
34	chr1:209946600-209956400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:209947200-209956400	Strong transcription	Dnd41	blood
36	chr1:209947600-209956600	Strong transcription	Thymus	Thymus
37	chr1:209948800-209956200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr1:209948800-209956400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr1:209949200-209956200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:209949200-209956600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr1:209949200-209957000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:209949400-209956200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:209949600-209956200	Strong transcription	GM12878-XiMat	blood
44	chr1:209949800-209956200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:209949800-209956400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:209949800-209956600	Strong transcription	Primary B cells from cord blood	blood
47	chr1:209950000-209956600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr1:209950000-209956800	Strong transcription	Primary T cells from cord blood	blood
49	chr1:209950200-209957400	Weak transcription	Aorta	Aorta
50	chr1:209951200-209956400	Weak transcription	HSMMtube	muscle

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