Variant report

Variant	nsv975328
Chromosome Location	chr11:47446815-47471052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:867)
CpG islands
(count:1652)
Chromatin interactive
region (count:35)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:867 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:47452984-47453290	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:47447517-47448626	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:47447812-47447985	K562	blood:	n/a	n/a
4	ARID3A	chr11:47459008-47459540	HepG2	liver:	n/a	n/a
5	ATF1	chr11:47447788-47448347	K562	blood:	n/a	n/a
6	ATF2	chr11:47447593-47448051	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:47447503-47448331	GM12878	blood:	n/a	n/a
8	ATF2	chr11:47447640-47448035	GM12878	blood:	n/a	n/a
9	ATF3	chr11:47447578-47448014	A549	lung:	n/a	n/a
10	ATF3	chr11:47448606-47449070	A549	lung:	n/a	n/a
11	ATF3	chr11:47447585-47448193	K562	blood:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
12	ATF3	chr11:47447741-47448575	A549	lung:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
13	BACH1	chr11:47447754-47447987	K562	blood:	n/a	n/a
14	BCL3	chr11:47447901-47448587	A549	lung:	n/a	n/a
15	BCL3	chr11:47447542-47448535	A549	lung:	n/a	n/a
16	BCLAF1	chr11:47447624-47448106	GM12878	blood:	n/a	n/a
17	BDP1	chr11:47448325-47448604	Hela-S3	cervix:	n/a	n/a
18	BHLHE40	chr11:47447621-47448425	K562	blood:	n/a	n/a
19	BHLHE40	chr11:47447582-47448463	HepG2	liver:	n/a	n/a
20	BHLHE40	chr11:47447674-47448497	GM12878	blood:	n/a	n/a
21	BRCA1	chr11:47447720-47448457	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr11:47447810-47448263	HepG2	liver:	n/a	n/a
23	BRCA1	chr11:47447749-47448153	GM12878	blood:	n/a	n/a
24	CBX3	chr11:47447556-47448574	K562	blood:	n/a	n/a
25	CCNT2	chr11:47447660-47448234	K562	blood:	n/a	chr11:47448119-47448128 chr11:47448028-47448037
26	CEBPB	chr11:47461785-47461996	HepG2	liver:	n/a	chr11:47461884-47461895
27	CEBPB	chr11:47448157-47448448	A549	lung:	n/a	n/a
28	CEBPB	chr11:47447941-47448034	K562	blood:	n/a	n/a
29	CEBPB	chr11:47447914-47448390	Hela-S3	cervix:	n/a	n/a
30	CEBPD	chr11:47447592-47447950	HepG2	liver:	n/a	n/a
31	CEBPD	chr11:47459054-47459457	HepG2	liver:	n/a	n/a
32	CHD1	chr11:47447471-47447995	GM12878	blood:	n/a	chr11:47447737-47447747 chr11:47447862-47447872
33	CHD2	chr11:47447905-47448131	HepG2	liver:	n/a	n/a
34	CHD2	chr11:47447278-47447343	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr11:47447631-47448213	K562	blood:	n/a	chr11:47447737-47447747 chr11:47447862-47447872
36	CHD2	chr11:47447607-47448411	GM12878	blood:	n/a	chr11:47447737-47447747 chr11:47447862-47447872
37	CHD2	chr11:47447675-47448508	Hela-S3	cervix:	n/a	chr11:47447737-47447747 chr11:47447862-47447872
38	CREB1	chr11:47447713-47448487	K562	blood:	n/a	n/a
39	CREB1	chr11:47447468-47448412	K562	blood:	n/a	n/a
40	CREB1	chr11:47447677-47448468	A549	lung:	n/a	n/a
41	CREB1	chr11:47447695-47448582	ECC-1	luminal epithelium:	n/a	n/a
42	CREB1	chr11:47447550-47448408	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr11:47447538-47448601	HepG2	liver:	n/a	n/a
44	CREB1	chr11:47447547-47448678	A549	lung:	n/a	n/a
45	CREB1	chr11:47447570-47448362	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr11:47447521-47448748	HepG2	liver:	n/a	n/a
47	CREB1	chr11:47447504-47448424	GM12878	blood:	n/a	n/a
48	CTCF	chr11:47459540-47459690	AoAF	blood vessel:	n/a	chr11:47459672-47459685
49	CTCF	chr11:47464660-47464810	GM12871	blood:	n/a	n/a
50	CTCF	chr11:47459580-47459730	AG09319	gingival:	n/a	chr11:47459672-47459685

(count:1652 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47470887-47470937	GM12891	blood:	n/a
2	chr11:47470803-47470853	HRCEpiC	kidney:	n/a
3	chr11:47448111-47448161	GM12878	blood:	n/a
4	chr11:47448534-47448584	HCT-116	colon:	n/a
5	chr11:47448111-47448161	HEK293	kidney:	embryo
6	chr11:47470887-47470937	GM12891	blood:	n/a
7	chr11:47470803-47470853	HRCEpiC	kidney:	n/a
8	chr11:47448111-47448161	GM12878	blood:	n/a
9	chr11:47448534-47448584	HCT-116	colon:	n/a
10	chr11:47448111-47448161	HEK293	kidney:	embryo
11	chr11:47448172-47448222	MCF10A-Er-Src	breast:	n/a
12	chr11:47463363-47463413	GM12878	blood:	n/a
13	chr11:47470803-47470853	SK-N-SH_RA	brain:	n/a
14	chr11:47448223-47448273	GM12878	blood:	n/a
15	chr11:47447843-47447893	HL-60	blood:	n/a
16	chr11:47470887-47470937	NHDF-neo	bronchial:	n/a
17	chr11:47447843-47447893	HNPCEpiC	eye:	n/a
18	chr11:47470633-47470683	HUVEC	blood vessel:	n/a
19	chr11:47451623-47451673	AG04449	skin:	fetal
20	chr11:47448256-47448306	PANC-1	pancreas:	n/a
21	chr11:47448172-47448222	MCF-7	breast:	n/a
22	chr11:47448113-47448163	A549	lung:	n/a
23	chr11:47448208-47448258	BJ	skin:	n/a
24	chr11:47447363-47447413	GM06990	blood:	n/a
25	chr11:47447411-47447461	HCT-116	colon:	n/a
26	chr11:47447463-47447513	SK-N-MC	brain:	n/a
27	chr11:47448170-47448220	K562	blood:	n/a
28	chr11:47447843-47447893	NH-A	brain:	n/a
29	chr11:47447411-47447461	HL-60	blood:	n/a
30	chr11:47459510-47459560	NH-A	brain:	n/a
31	chr11:47470900-47470950	HNPCEpiC	eye:	n/a
32	chr11:47470674-47470724	HEEpiC	esophagus:	n/a
33	chr11:47448208-47448258	HUVEC	blood vessel:	n/a
34	chr11:47447463-47447513	AG04450	lung:	fetal
35	chr11:47447463-47447513	NT2-D1	testis:	n/a
36	chr11:47470633-47470683	CMK	blood:	n/a
37	chr11:47448113-47448163	LNCaP	prostate:	n/a
38	chr11:47448256-47448306	PFSK-1	brain:	n/a
39	chr11:47470674-47470724	SK-N-SH	brain:	n/a
40	chr11:47468898-47468948	SK-N-SH_RA	brain:	n/a
41	chr11:47448172-47448222	AoSMC	blood vessel:	n/a
42	chr11:47448172-47448222	ECC-1	luminal epithelium:	n/a
43	chr11:47448170-47448220	H1-hESC	embryonic stem cell:	embryo
44	chr11:47468663-47468713	HCM	heart:	n/a
45	chr11:47470791-47470841	PrEC	prostate:	n/a
46	chr11:47468898-47468948	HMEC	breast:	n/a
47	chr11:47468663-47468713	U87	brain:	n/a
48	chr11:47448256-47448306	SAEC	small airway:	n/a
49	chr11:47447411-47447461	HCM	heart:	n/a
50	chr11:47468663-47468713	AG09309	skin:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47453415..47456321-chr11:47460580..47462674,2	K562	blood:
2	chr11:47466850..47468725-chr11:47468990..47470844,2	MCF-7	breast:
3	chr11:47428900..47431160-chr11:47463580..47465608,3	K562	blood:
4	chr11:47445759..47448729-chr11:47464943..47467214,2	K562	blood:
5	chr11:47290429..47293321-chr11:47445782..47448351,3	K562	blood:
6	chr11:47428130..47431471-chr11:47462803..47464877,5	MCF-7	breast:
7	chr11:47464955..47466544-chr11:47469002..47472026,3	K562	blood:
8	chr11:47458007..47459868-chr11:47463393..47467045,3	K562	blood:
9	chr11:47448979..47451743-chr11:47463608..47465807,2	K562	blood:
10	chr11:47393904..47396157-chr11:47470768..47473651,2	K562	blood:
11	chr11:47461993..47464922-chr11:47469448..47471026,2	MCF-7	breast:
12	chr11:47446295..47450524-chr11:47461441..47464685,6	MCF-7	breast:
13	chr11:47290951..47293321-chr11:47445782..47448016,2	K562	blood:
14	chr11:47420268..47423188-chr11:47445332..47447348,2	K562	blood:
15	chr11:47457819..47459408-chr11:47461959..47464918,2	MCF-7	breast:
16	chr11:47458007..47459868-chr11:47463393..47467045,3	K562	blood:
17	chr11:47446158..47448061-chr11:47454722..47456544,3	MCF-7	breast:
18	chr11:47457446..47459034-chr11:47462539..47464342,2	MCF-7	breast:
19	chr11:47461517..47464157-chr11:47469005..47471095,2	K562	blood:
20	chr11:47461517..47464157-chr11:47469005..47471095,2	K562	blood:
21	chr11:47449466..47452099-chr11:47461409..47464766,3	MCF-7	breast:
22	chr11:47399004..47400770-chr11:47446343..47448819,3	K562	blood:
23	chr11:47461993..47464922-chr11:47469448..47471026,2	MCF-7	breast:
24	chr11:47196939..47199221-chr11:47446629..47449473,2	K562	blood:
25	chr11:47449067..47450905-chr11:47458013..47460570,2	MCF-7	breast:
26	chr11:47411798..47414791-chr11:47455255..47456985,2	K562	blood:
27	chr11:47449067..47450905-chr11:47458013..47460570,2	MCF-7	breast:
28	chr11:47398927..47401374-chr11:47448250..47449858,2	K562	blood:
29	chr11:47461517..47466481-chr11:47469061..47471319,5	K562	blood:
30	chr11:47461517..47466481-chr11:47469061..47471319,5	K562	blood:
31	chr11:47290657..47292737-chr11:47464964..47467930,2	MCF-7	breast:
32	chr11:47446295..47450524-chr11:47461441..47464685,6	MCF-7	breast:
33	chr11:47198368..47200069-chr11:47446814..47449315,2	MCF-7	breast:
34	chr11:47448979..47451743-chr11:47463608..47465807,2	K562	blood:
35	chr11:47427968..47429864-chr11:47469091..47470991,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSMC3-2	chr11:47463163-47463283	NONHSAT021248
2	lnc-PSMC3-2	chr11:47459315-47459598	NONHSAT021248

No data

Variant related genes	Relation type
RAPSN	TF binding region
PSMC3	TF binding region
RNU6-1302P	TF binding region
RAPSN	CpG island
PSMC3	CpG island
RNU6-1302P	CpG island
ENSG00000255197	chromatin interactions
ENSG00000149182	chromatin interactions
ENSG00000110514	chromatin interactions
ENSG00000165915	chromatin interactions
ENSG00000066336	chromatin interactions
ENSG00000165917	chromatin interactions
ENSG00000252327	chromatin interactions
ENSG00000165916	chromatin interactions
ENSG00000264583	chromatin interactions

Extended variants
information (count: 970 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:970 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368217589	chr11:47446838-47446839	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs369281472	chr11:47446890-47446891	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs532532876	chr11:47446919-47446920	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs80084197	chr11:47446963-47446964	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs562940986	chr11:47446992-47446993	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs373883216	chr11:47447001-47447002	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs573175255	chr11:47447025-47447026	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs530619747	chr11:47447078-47447079	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs550708945	chr11:47447080-47447081	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs567337917	chr11:47447092-47447093	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs113173408	chr11:47447098-47447099	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs540582722	chr11:47447113-47447114	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs546467795	chr11:47447126-47447127	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs566165578	chr11:47447185-47447186	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs539274586	chr11:47447191-47447192	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs17790804	chr11:47447202-47447203	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551875996	chr11:47447237-47447238	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs568889485	chr11:47447288-47447289	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs528209726	chr11:47447309-47447310	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs10838709	chr11:47447346-47447347	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs200093703	chr11:47447392-47447393	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs372362891	chr11:47447404-47447405	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs374507172	chr11:47447412-47447413	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs574933431	chr11:47447454-47447455	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs534528299	chr11:47447559-47447560	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs554469130	chr11:47447662-47447663	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs374084363	chr11:47447706-47447707	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs367911145	chr11:47447714-47447715	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs577328816	chr11:47447723-47447724	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs546170182	chr11:47447759-47447760	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs144857043	chr11:47447890-47447891	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs111781806	chr11:47447924-47447925	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs7948705	chr11:47447955-47447956	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs561164447	chr11:47447962-47447963	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs529834250	chr11:47448024-47448025	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs546506583	chr11:47448039-47448040	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs559987853	chr11:47448073-47448074	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs531985677	chr11:47448106-47448107	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs554619432	chr11:47448114-47448115	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs11039231	chr11:47448161-47448162	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs551716715	chr11:47448189-47448190	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs187507660	chr11:47448231-47448232	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs11307826	chr11:47448335-47448336	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs537994811	chr11:47448341-47448342	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs191970379	chr11:47448404-47448405	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs568651555	chr11:47448432-47448433	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs534360115	chr11:47448496-47448497	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs11600581	chr11:47448497-47448498	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs552356152	chr11:47448525-47448526	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs577571265	chr11:47448534-47448535	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:662 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47431200-47447200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47445400-47447000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:47445400-47447000	Genic enhancers	Spleen	Spleen
4	chr11:47445400-47447000	Transcr. at gene 5' and 3'	Hela-S3	cervix
5	chr11:47445600-47447000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:47445600-47447000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:47445800-47447000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:47445800-47447000	Genic enhancers	Placenta	Placenta
9	chr11:47445800-47447400	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr11:47446000-47447000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
11	chr11:47446000-47447000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:47446000-47447000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
13	chr11:47446000-47447200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
14	chr11:47446200-47447000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:47446200-47447000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:47446200-47447000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr11:47446200-47447000	Enhancers	Left Ventricle	heart
18	chr11:47446200-47447000	Transcr. at gene 5' and 3'	HSMM	muscle
19	chr11:47446200-47447800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
20	chr11:47446400-47447000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
21	chr11:47446400-47447000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:47446400-47447000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:47446400-47447000	Enhancers	Gastric	stomach
24	chr11:47446400-47447000	Transcr. at gene 5' and 3'	K562	blood
25	chr11:47446400-47447000	Transcr. at gene 5' and 3'	NHLF	lung
26	chr11:47446400-47447200	Enhancers	Primary B cells from peripheral blood	blood
27	chr11:47446400-47447200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:47446400-47447200	Transcr. at gene 5' and 3'	HepG2	liver
29	chr11:47446400-47447400	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr11:47446400-47447400	Flanking Active TSS	HUVEC	blood vessel
31	chr11:47446400-47447600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:47446600-47447000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:47446600-47447000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:47446600-47447000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
35	chr11:47446600-47447000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:47446600-47447000	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
37	chr11:47446600-47447000	Weak transcription	Aorta	Aorta
38	chr11:47446600-47447000	Enhancers	Esophagus	oesophagus
39	chr11:47446600-47447000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
40	chr11:47446600-47447000	Flanking Active TSS	Fetal Kidney	kidney
41	chr11:47446600-47447000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
42	chr11:47446600-47447000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr11:47446600-47447000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
44	chr11:47446600-47447000	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
45	chr11:47446600-47447000	Transcr. at gene 5' and 3'	A549	lung
46	chr11:47446600-47447000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr11:47446600-47447000	Transcr. at gene 5' and 3'	NHEK	skin
48	chr11:47446600-47447200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
49	chr11:47446600-47447200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:47446600-47447200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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