Variant report

Variant	nsv587846
Chromosome Location	chr21:46846944-46899119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2247)
CpG islands
(count:3299)
Chromatin interactive
region (count:193)
LncRNA
region (count:1)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:2247 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46852938-46853183	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:46889563-46890145	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:46898153-46898427	K562	blood:	n/a	n/a
4	ARID3A	chr21:46852346-46852621	HepG2	liver:	n/a	n/a
5	ARID3A	chr21:46868756-46869037	HepG2	liver:	n/a	n/a
6	ARID3A	chr21:46850930-46851046	HepG2	liver:	n/a	n/a
7	ARID3A	chr21:46891572-46891934	HepG2	liver:	n/a	n/a
8	ARID3A	chr21:46859359-46859622	HepG2	liver:	n/a	n/a
9	ARID3A	chr21:46847495-46847968	HepG2	liver:	n/a	n/a
10	ARID3A	chr21:46859274-46859629	K562	blood:	n/a	n/a
11	ATF2	chr21:46859221-46859562	GM12878	blood:	n/a	n/a
12	ATF3	chr21:46898009-46898253	K562	blood:	n/a	n/a
13	ATF3	chr21:46847505-46847891	K562	blood:	n/a	chr21:46847674-46847694 chr21:46847803-46847817 chr21:46847674-46847683
14	ATF3	chr21:46859354-46859555	K562	blood:	n/a	n/a
15	ATF3	chr21:46847631-46847878	K562	blood:	n/a	chr21:46847674-46847694 chr21:46847803-46847817 chr21:46847674-46847683
16	ATF3	chr21:46847533-46847922	HepG2	liver:	n/a	chr21:46847674-46847694 chr21:46847803-46847817 chr21:46847674-46847683
17	ATF3	chr21:46847649-46847942	A549	lung:	n/a	chr21:46847674-46847694 chr21:46847803-46847817 chr21:46847674-46847683
18	BACH1	chr21:46859372-46859654	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr21:46898059-46898296	K562	blood:	n/a	n/a
20	BACH1	chr21:46880570-46880918	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr21:46897996-46898292	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr21:46850439-46850592	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr21:46880593-46880928	K562	blood:	n/a	n/a
24	BATF	chr21:46852825-46853137	GM12878	blood:	n/a	chr21:46852989-46852999 chr21:46852988-46852999
25	BCL11A	chr21:46890718-46891213	GM12878	blood:	n/a	n/a
26	BCL11A	chr21:46859165-46859449	GM12878	blood:	n/a	chr21:46859206-46859215
27	BCL3	chr21:46847608-46847982	A549	lung:	n/a	chr21:46847951-46847964
28	BCL3	chr21:46872766-46873415	GM12878	blood:	n/a	n/a
29	BCL3	chr21:46872696-46873552	GM12878	blood:	n/a	n/a
30	BCLAF1	chr21:46859193-46859674	GM12878	blood:	n/a	chr21:46859206-46859215
31	BCLAF1	chr21:46890784-46891041	GM12878	blood:	n/a	n/a
32	BHLHE40	chr21:46850852-46851196	HepG2	liver:	n/a	n/a
33	BHLHE40	chr21:46890747-46891213	GM12878	blood:	n/a	n/a
34	BHLHE40	chr21:46868617-46869195	HepG2	liver:	n/a	chr21:46869173-46869189 chr21:46869167-46869183
35	BHLHE40	chr21:46847534-46848002	A549	lung:	n/a	chr21:46847672-46847685 chr21:46847675-46847684 chr21:46847668-46847689 chr21:46847674-46847683 chr21:46847674-46847683
36	BHLHE40	chr21:46847547-46847747	HepG2	liver:	n/a	chr21:46847672-46847685 chr21:46847675-46847684 chr21:46847668-46847689 chr21:46847674-46847683 chr21:46847674-46847683
37	BHLHE40	chr21:46892467-46892613	HepG2	liver:	n/a	n/a
38	BHLHE40	chr21:46892655-46892824	GM12878	blood:	n/a	n/a
39	BHLHE40	chr21:46898027-46898282	K562	blood:	n/a	n/a
40	BHLHE40	chr21:46859057-46859624	K562	blood:	n/a	n/a
41	BHLHE40	chr21:46891635-46892013	HepG2	liver:	n/a	n/a
42	BHLHE40	chr21:46847285-46848054	HepG2	liver:	n/a	chr21:46847672-46847685 chr21:46847675-46847684 chr21:46847668-46847689 chr21:46847674-46847683 chr21:46847674-46847683
43	BHLHE40	chr21:46889231-46890054	HepG2	liver:	n/a	n/a
44	BHLHE40	chr21:46847475-46847992	K562	blood:	n/a	chr21:46847672-46847685 chr21:46847675-46847684 chr21:46847668-46847689 chr21:46847674-46847683 chr21:46847674-46847683
45	BHLHE40	chr21:46859277-46859603	GM12878	blood:	n/a	n/a
46	BRCA1	chr21:46847471-46847603	HepG2	liver:	n/a	n/a
47	BRCA1	chr21:46859546-46859547	HepG2	liver:	n/a	n/a
48	BRCA1	chr21:46898117-46898317	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr21:46859315-46859624	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr21:46859357-46859665	H1-hESC	embryonic stem cell:	n/a	n/a

(count:3299 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46859183-46859233	PANC-1	pancreas:	n/a
2	chr21:46875142-46875192	NHDF-neo	bronchial:	n/a
3	chr21:46850665-46850715	HIPEpiC	eye:	n/a
4	chr21:46850840-46850890	RPTEC	kidney:	n/a
5	chr21:46847648-46847698	HMEC	breast:	n/a
6	chr21:46859183-46859233	PANC-1	pancreas:	n/a
7	chr21:46875142-46875192	NHDF-neo	bronchial:	n/a
8	chr21:46850665-46850715	HIPEpiC	eye:	n/a
9	chr21:46850840-46850890	RPTEC	kidney:	n/a
10	chr21:46847648-46847698	HMEC	breast:	n/a
11	chr21:46892832-46892882	CMK	blood:	n/a
12	chr21:46898789-46898839	Hela-S3	cervix:	n/a
13	chr21:46890849-46890899	HCT-116	colon:	n/a
14	chr21:46856099-46856149	GM06990	blood:	n/a
15	chr21:46850665-46850715	NH-A	brain:	n/a
16	chr21:46860579-46860629	GM12891	blood:	n/a
17	chr21:46875218-46875268	HEK293	kidney:	embryo
18	chr21:46898610-46898660	HCPEpiC	choroid plexus:	n/a
19	chr21:46876658-46876708	NHBE	bronchial:	n/a
20	chr21:46856438-46856488	ECC-1	luminal epithelium:	n/a
21	chr21:46888317-46888367	IMR90	lung:	fetal
22	chr21:46850665-46850715	ProgFib	skin:	n/a
23	chr21:46859983-46860033	CMK	blood:	n/a
24	chr21:46896174-46896224	CMK	blood:	n/a
25	chr21:46859983-46860033	SK-N-SH	brain:	n/a
26	chr21:46898789-46898839	ProgFib	skin:	n/a
27	chr21:46851112-46851162	ovcar-3	ovarian:	n/a
28	chr21:46889296-46889346	HCM	heart:	n/a
29	chr21:46859983-46860033	HPAEpiC	pulmonary alveolar:	n/a
30	chr21:46850665-46850715	ovcar-3	ovarian:	n/a
31	chr21:46898610-46898660	HNPCEpiC	eye:	n/a
32	chr21:46876731-46876781	GM12892	blood:	n/a
33	chr21:46876731-46876781	HL-60	blood:	n/a
34	chr21:46895659-46895709	AG04449	skin:	fetal
35	chr21:46890849-46890899	HUVEC	blood vessel:	n/a
36	chr21:46888317-46888367	CMK	blood:	n/a
37	chr21:46859183-46859233	HepG2	liver:	n/a
38	chr21:46850449-46850499	ECC-1	luminal epithelium:	n/a
39	chr21:46858801-46858851	SKMC	muscle:	n/a
40	chr21:46850594-46850644	HRE	kidney:	n/a
41	chr21:46890907-46890957	AG09309	skin:	n/a
42	chr21:46898137-46898187	LNCaP	prostate:	n/a
43	chr21:46895659-46895709	SK-N-MC	brain:	n/a
44	chr21:46860579-46860629	HCF	heart:	n/a
45	chr21:46860683-46860733	HMEC	breast:	n/a
46	chr21:46897181-46897231	LNCaP	prostate:	n/a
47	chr21:46896174-46896224	BJ	skin:	n/a
48	chr21:46872319-46872369	MCF10A-Er-Src	breast:	n/a
49	chr21:46847581-46847631	MCF-7	breast:	n/a
50	chr21:46850449-46850499	AG09309	skin:	n/a

(count:193 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr21:46556762..46557633-chr21:46898156..46898795,2	K562	blood:
2	chr21:46832516..46834159-chr21:46845561..46847271,2	K562	blood:
3	chr21:46896313..46899192-chr21:46961154..46962755,2	K562	blood:
4	chr21:46875422..46878249-chr21:46887446..46891029,3	MCF-7	breast:
5	chr21:46729832..46731625-chr21:46858347..46860225,2	MCF-7	breast:
6	chr21:46713813..46714802-chr21:46859039..46859572,2	K562	blood:
7	chr21:46746231..46748655-chr21:46872745..46875020,2	MCF-7	breast:
8	chr21:46845674..46847482-chr21:46860564..46863097,2	MCF-7	breast:
9	chr21:46881386..46884375-chr21:46884703..46886434,2	K562	blood:
10	chr21:46863098..46865222-chr21:46896487..46898859,2	K562	blood:
11	chr21:46831123..46833429-chr21:46848664..46851628,3	K562	blood:
12	chr21:46845602..46847736-chr21:46866609..46868379,2	MCF-7	breast:
13	chr21:46828660..46831361-chr21:46860966..46863256,2	K562	blood:
14	chr21:46869758..46871807-chr21:46892462..46894183,2	MCF-7	breast:
15	chr21:46738916..46741703-chr21:46859968..46862890,2	MCF-7	breast:
16	chr21:46891833..46894369-chr21:46896586..46899393,2	MCF-7	breast:
17	chr21:46881532..46885170-chr21:46887591..46890256,3	K562	blood:
18	chr21:46886399..46888507-chr21:46891960..46893848,2	MCF-7	breast:
19	chr21:46897692..46900108-chr21:46960321..46963178,3	K562	blood:
20	chr21:46868230..46870236-chr21:46961820..46963825,2	K562	blood:
21	chr21:46855501..46857369-chr21:46857574..46859488,2	K562	blood:
22	chr21:46867261..46870144-chr21:46877850..46880739,2	MCF-7	breast:
23	chr21:46881532..46885170-chr21:46887591..46890256,3	K562	blood:
24	chr21:46855334..46858188-chr21:46859123..46862229,3	MCF-7	breast:
25	chr21:46886366..46889897-chr21:46896542..46899002,4	K562	blood:
26	chr21:46893818..46895378-chr21:46895704..46898491,2	K562	blood:
27	chr21:46776357..46778968-chr21:46847509..46849489,2	MCF-7	breast:
28	chr21:46869758..46871807-chr21:46892462..46894183,2	MCF-7	breast:
29	chr21:46885010..46886726-chr21:46889765..46891598,2	MCF-7	breast:
30	chr21:46863789..46864516-chr21:46897648..46898230,2	MCF-7	breast:
31	chr21:46711053..46717206-chr21:46856127..46863912,14	MCF-7	breast:
32	chr21:46709020..46713873-chr21:46844930..46849148,6	MCF-7	breast:
33	chr21:46863098..46865222-chr21:46896487..46898859,2	K562	blood:
34	chr21:46775998..46776826-chr21:46859030..46859669,2	K562	blood:
35	chr21:46711526..46713528-chr21:46856543..46858756,2	K562	blood:
36	chr21:46707964..46709503-chr21:46890341..46892819,2	MCF-7	breast:
37	chr21:46823078..46826358-chr21:46862914..46866322,4	MCF-7	breast:
38	chr21:46743427..46746630-chr21:46846021..46849550,3	MCF-7	breast:
39	chr21:46741768..46744187-chr21:46847822..46850658,3	MCF-7	breast:
40	chr21:46780359..46782550-chr21:46847058..46849982,2	K562	blood:
41	chr21:46806340..46808565-chr21:46858343..46860939,2	MCF-7	breast:
42	chr21:46830376..46832624-chr21:46896929..46899496,3	K562	blood:
43	chr21:46897608..46898629-chr21:47240205..47241125,3	K562	blood:
44	chr21:46706179..46716185-chr21:46853341..46866200,29	MCF-7	breast:
45	chr21:46727455..46729208-chr21:46846804..46849388,2	MCF-7	breast:
46	chr21:46738519..46741397-chr21:46859195..46860905,2	MCF-7	breast:
47	chr21:46845674..46847482-chr21:46860564..46863097,2	MCF-7	breast:
48	chr21:46831555..46834681-chr21:46845495..46847115,3	K562	blood:
49	chr21:46893143..46895439-chr21:46901691..46903324,2	K562	blood:
50	chr21:46855501..46857369-chr21:46857574..46859488,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCBP3-6	chr21:46897506-46897818	expReg_chr21_1994_+

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6815-5p	chr21:46898185-46898207	MIMAT0027530
hsa-miR-6815-3p	chr21:46898220-46898240	MIMAT0027531

No data

Variant related genes	Relation type
COL18A1	TF binding region
COL18A1-AS1	TF binding region
COL18A1	CpG island
COL18A1-AS1	CpG island
ENSG00000197381	chromatin interactions
ENSG00000215447	chromatin interactions
ENSG00000124120	chromatin interactions
ENSG00000182871	chromatin interactions
ENSG00000173638	chromatin interactions
ENSG00000186866	chromatin interactions
ENSG00000223768	chromatin interactions
ENSG00000228355	chromatin interactions
ENSG00000065000	chromatin interactions
ENSG00000224574	chromatin interactions
ENSG00000235374	chromatin interactions

Extended variants
information (count: 3337 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:3337 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2838923	chr21:46846944-46846945	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
2	rs537825718	chr21:46846976-46846977	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs144875811	chr21:46847059-46847060	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs2838924	chr21:46847085-46847086	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs373130833	chr21:46847101-46847102	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs535625035	chr21:46847135-46847136	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs180703304	chr21:46847142-46847143	Enhancers Genic enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs572509472	chr21:46847208-46847209	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs185912301	chr21:46847221-46847222	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs147955202	chr21:46847259-46847260	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs117627310	chr21:46847266-46847267	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs79677109	chr21:46847286-46847287	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs113623309	chr21:46847330-46847331	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs559957305	chr21:46847359-46847360	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs573584654	chr21:46847363-46847364	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs528786161	chr21:46847367-46847368	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs540727531	chr21:46847368-46847369	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs35015575	chr21:46847417-46847418	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs190029053	chr21:46847432-46847433	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs532994903	chr21:46847479-46847480	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs181203469	chr21:46847508-46847509	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs563224968	chr21:46847509-46847510	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs374596286	chr21:46847581-46847582	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs530751689	chr21:46847582-46847583	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs549882175	chr21:46847597-46847598	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs569790705	chr21:46847599-46847600	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs549759228	chr21:46847648-46847649	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs568319820	chr21:46847654-46847655	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs529300007	chr21:46847679-46847680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs547542487	chr21:46847686-46847687	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs187119221	chr21:46847729-46847730	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs540018133	chr21:46847732-46847733	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs558424918	chr21:46847734-46847735	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs570354226	chr21:46847746-46847747	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs2838925	chr21:46847759-46847760	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145531985	chr21:46847772-46847773	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs74959733	chr21:46847817-46847818	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs148841885	chr21:46847825-46847826	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs552769968	chr21:46847826-46847827	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs145480081	chr21:46847870-46847871	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs7278597	chr21:46847899-46847900	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs563186901	chr21:46847909-46847910	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs530625017	chr21:46847915-46847916	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs377551893	chr21:46847925-46847926	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs542475481	chr21:46847931-46847932	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs137975649	chr21:46847932-46847933	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs529246496	chr21:46847948-46847949	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs62216298	chr21:46847958-46847959	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs74875349	chr21:46847962-46847963	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs566026451	chr21:46847972-46847973	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Cancer	20164919	CNVD
Lung cancer	21203850	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Acute myeloid leukemia	19651600	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:2378 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46827600-46847200	Weak transcription	NHLF	lung
2	chr21:46830800-46852000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr21:46832400-46850000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:46833200-46847000	Weak transcription	HUVEC	blood vessel
5	chr21:46837800-46850400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr21:46838800-46847200	Weak transcription	Ovary	ovary
7	chr21:46840800-46847000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr21:46841200-46847000	Weak transcription	HSMMtube	muscle
9	chr21:46841400-46850200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr21:46841400-46851800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr21:46841800-46847000	Weak transcription	Adipose Nuclei	Adipose
12	chr21:46842000-46847200	Weak transcription	Esophagus	oesophagus
13	chr21:46842000-46847400	Weak transcription	Right Atrium	heart
14	chr21:46842000-46847800	Weak transcription	Colonic Mucosa	Colon
15	chr21:46842000-46851000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr21:46842200-46847000	Weak transcription	Hela-S3	cervix
17	chr21:46842200-46847800	Weak transcription	Fetal Kidney	kidney
18	chr21:46842200-46849600	Weak transcription	Gastric	stomach
19	chr21:46842200-46856800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr21:46842400-46847400	Weak transcription	Left Ventricle	heart
21	chr21:46843200-46847600	Weak transcription	Right Ventricle	heart
22	chr21:46843600-46847600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr21:46843800-46848200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr21:46844000-46856000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr21:46844400-46847200	Enhancers	HepG2	liver
26	chr21:46844400-46848200	Enhancers	Fetal Heart	heart
27	chr21:46844600-46847200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr21:46844800-46847800	Weak transcription	Fetal Intestine Large	intestine
29	chr21:46845200-46848000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr21:46845600-46847400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr21:46845600-46848200	Enhancers	Pancreas	Pancrea
32	chr21:46845600-46849800	Weak transcription	Spleen	Spleen
33	chr21:46845800-46847200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr21:46846000-46850000	Weak transcription	Fetal Muscle Leg	muscle
35	chr21:46846200-46847200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr21:46846200-46848000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr21:46846200-46848200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr21:46846200-46848400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr21:46846400-46848000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr21:46846400-46848000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr21:46846400-46848400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr21:46846400-46848400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr21:46846400-46848400	Enhancers	HMEC	breast
44	chr21:46846600-46847000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr21:46846600-46847200	Enhancers	A549	lung
46	chr21:46846600-46847600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr21:46846600-46847800	Weak transcription	Aorta	Aorta
48	chr21:46846600-46848000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr21:46846600-46848200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr21:46846600-46848400	Enhancers	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links