Variant report

Variant	esv1808790
Chromosome Location	chr21:46349496-46355712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:505)
CpG islands
(count:611)
Chromatin interactive
region (count:27)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr21:46351008-46351474	GM12878	blood:	n/a	n/a
2	BATF	chr21:46349649-46349996	GM12878	blood:	n/a	n/a
3	BATF	chr21:46349669-46350031	GM12878	blood:	n/a	n/a
4	BCL11A	chr21:46351119-46351342	GM12878	blood:	n/a	n/a
5	BCL3	chr21:46351036-46351467	GM12878	blood:	n/a	n/a
6	BCLAF1	chr21:46352472-46352931	GM12878	blood:	n/a	chr21:46352707-46352720 chr21:46352525-46352538 chr21:46352531-46352544
7	BHLHE40	chr21:46350678-46351617	GM12878	blood:	n/a	n/a
8	BHLHE40	chr21:46353261-46353309	GM12878	blood:	n/a	n/a
9	BHLHE40	chr21:46352702-46352725	K562	blood:	n/a	n/a
10	BHLHE40	chr21:46352583-46352898	GM12878	blood:	n/a	n/a
11	BHLHE40	chr21:46349533-46350281	GM12878	blood:	n/a	n/a
12	BHLHE40	chr21:46355565-46355745	K562	blood:	n/a	n/a
13	BHLHE40	chr21:46351865-46352158	GM12878	blood:	n/a	chr21:46351975-46351991
14	BRCA1	chr21:46351451-46351634	GM12878	blood:	n/a	n/a
15	CBX3	chr21:46349434-46349704	K562	blood:	n/a	n/a
16	CCNT2	chr21:46352477-46352873	K562	blood:	n/a	n/a
17	CEBPB	chr21:46350949-46351595	GM12878	blood:	n/a	n/a
18	CEBPB	chr21:46350960-46351158	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr21:46350754-46351942	GM12878	blood:	n/a	chr21:46351189-46351199
20	CHD1	chr21:46352409-46352995	IMR90	lung:	n/a	n/a
21	CHD1	chr21:46352556-46352837	GM12878	blood:	n/a	n/a
22	CHD2	chr21:46352639-46352928	GM12878	blood:	n/a	n/a
23	CHD2	chr21:46351063-46351513	GM12878	blood:	n/a	chr21:46351189-46351199
24	CHD2	chr21:46350573-46350750	GM12878	blood:	n/a	n/a
25	CHD2	chr21:46351862-46351978	GM12878	blood:	n/a	n/a
26	CHD2	chr21:46349370-46350245	GM12878	blood:	n/a	n/a
27	CTCF	chr21:46355537-46355638	HepG2	liver:	n/a	n/a
28	CTCF	chr21:46352660-46352810	Caco-2	colon:	n/a	n/a
29	CTCF	chr21:46351494-46351510	Spleen_OC	spleen:	n/a	n/a
30	CTCF	chr21:46352540-46352842	HepG2	liver:	n/a	n/a
31	CTCF	chr21:46352680-46352830	HepG2	liver:	n/a	n/a
32	CTCF	chr21:46352660-46352810	GM12865	blood:	n/a	n/a
33	CTCF	chr21:46352680-46352830	HA-sp	spinal cord:	n/a	n/a
34	CTCF	chr21:46352590-46352826	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr21:46352604-46352887	K562	blood:	n/a	n/a
36	CTCF	chr21:46352642-46352839	Medullo	brain:	n/a	n/a
37	CTCF	chr21:46352660-46352810	A549	lung:	n/a	n/a
38	CTCF	chr21:46352640-46352790	GM06990	blood:	n/a	n/a
39	CTCF	chr21:46352680-46352830	AG04449	skin:	n/a	n/a
40	CTCF	chr21:46352660-46352810	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr21:46352660-46352810	AG04450	lung:	n/a	n/a
42	CTCF	chr21:46352977-46353042	GM12892	blood:	n/a	n/a
43	CTCF	chr21:46352610-46352899	GM12891	blood:	n/a	n/a
44	CTCF	chr21:46352660-46352810	HCFaa	heart:	n/a	n/a
45	CTCF	chr21:46352593-46352846	Pancreas_OC	pancreas:	n/a	n/a
46	CTCF	chr21:46352640-46352790	GM12874	blood:	n/a	n/a
47	CTCF	chr21:46352620-46352770	HPF	lung:	n/a	n/a
48	CTCF	chr21:46352660-46352810	AG04449	skin:	n/a	n/a
49	CTCF	chr21:46352680-46352830	GM12873	blood:	n/a	n/a
50	CTCF	chr21:46352680-46352830	HVMF	connective:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46352193-46352243	AG09309	skin:	n/a
2	chr21:46352193-46352243	AG09309	skin:	n/a
3	chr21:46351329-46351379	HUVEC	blood vessel:	n/a
4	chr21:46352084-46352134	H1-hESC	embryonic stem cell:	embryo
5	chr21:46352817-46352867	AG09319	gingival:	n/a
6	chr21:46350872-46350922	U87	brain:	n/a
7	chr21:46350872-46350922	HCM	heart:	n/a
8	chr21:46351118-46351168	Hepatocyte	liver:	n/a
9	chr21:46352084-46352134	HIPEpiC	eye:	n/a
10	chr21:46352817-46352867	ProgFib	skin:	n/a
11	chr21:46353573-46353623	HNPCEpiC	eye:	n/a
12	chr21:46352193-46352243	HIPEpiC	eye:	n/a
13	chr21:46353573-46353623	Hepatocyte	liver:	n/a
14	chr21:46351920-46351970	K562	blood:	n/a
15	chr21:46351920-46351970	AG04449	skin:	fetal
16	chr21:46349496-46349546	T-47D	breast:	n/a
17	chr21:46351329-46351379	SK-N-SH	brain:	n/a
18	chr21:46352817-46352867	Caco-2	colon:	n/a
19	chr21:46352445-46352495	HAEpiC	amniotic membrane:	n/a
20	chr21:46352445-46352495	BE2_C	brain:	n/a
21	chr21:46351329-46351379	HCF	heart:	n/a
22	chr21:46350872-46350922	HCT-116	colon:	n/a
23	chr21:46352445-46352495	T-47D	breast:	n/a
24	chr21:46352193-46352243	HPAEpiC	pulmonary alveolar:	n/a
25	chr21:46351920-46351970	PFSK-1	brain:	n/a
26	chr21:46352817-46352867	Hepatocyte	liver:	n/a
27	chr21:46349496-46349546	MCF10A-Er-Src	breast:	n/a
28	chr21:46353573-46353623	HEEpiC	esophagus:	n/a
29	chr21:46352193-46352243	PrEC	prostate:	n/a
30	chr21:46350872-46350922	IMR90	lung:	fetal
31	chr21:46352817-46352867	HMEC	breast:	n/a
32	chr21:46353573-46353623	HIPEpiC	eye:	n/a
33	chr21:46351329-46351379	NHDF-neo	bronchial:	n/a
34	chr21:46353573-46353623	PrEC	prostate:	n/a
35	chr21:46352193-46352243	AG04449	skin:	fetal
36	chr21:46352193-46352243	HUVEC	blood vessel:	n/a
37	chr21:46349496-46349546	HPAEpiC	pulmonary alveolar:	n/a
38	chr21:46351329-46351379	Hepatocyte	liver:	n/a
39	chr21:46351118-46351168	AG04449	skin:	fetal
40	chr21:46351920-46351970	AG09319	gingival:	n/a
41	chr21:46352817-46352867	PANC-1	pancreas:	n/a
42	chr21:46353573-46353623	AG09319	gingival:	n/a
43	chr21:46352817-46352867	HUVEC	blood vessel:	n/a
44	chr21:46352193-46352243	Caco-2	colon:	n/a
45	chr21:46352084-46352134	HPAEpiC	pulmonary alveolar:	n/a
46	chr21:46351118-46351168	NB4	blood:	n/a
47	chr21:46352193-46352243	SK-N-SH	brain:	n/a
48	chr21:46352193-46352243	AG09319	gingival:	n/a
49	chr21:46350872-46350922	AG09309	skin:	n/a
50	chr21:46352817-46352867	Hela-S3	cervix:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46234565..46238085-chr21:46349825..46353215,3	MCF-7	breast:
2	chr21:46288744..46296879-chr21:46346201..46354260,26	MCF-7	breast:
3	chr21:46220263..46223201-chr21:46349640..46352735,4	K562	blood:
4	chr21:46230539..46232494-chr21:46352107..46354258,2	K562	blood:
5	chr21:46346404..46349719-chr6:26054432..26057685,3	MCF-7	breast:
6	chr21:46233611..46237296-chr21:46352613..46355418,3	K562	blood:
7	chr21:46234752..46239628-chr21:46345760..46349592,8	MCF-7	breast:
8	chr21:46345821..46352717-chr21:46492682..46495835,7	MCF-7	breast:
9	chr21:46353923..46356909-chr21:46357554..46361249,6	K562	blood:
10	chr21:46352341..46354807-chr21:46362095..46363713,2	K562	blood:
11	chr21:46352849..46354653-chr21:46493857..46495814,2	K562	blood:
12	chr20:49348358..49350092-chr21:46352024..46353576,2	MCF-7	breast:
13	chr21:46349055..46351032-chr21:46493561..46495184,2	MCF-7	breast:
14	chr21:46235954..46239342-chr21:46346367..46350296,5	K562	blood:
15	chr21:46220228..46226309-chr21:46349546..46355767,8	K562	blood:
16	chr21:46354394..46357381-chr21:46492511..46494330,2	MCF-7	breast:
17	chr21:46310744..46314052-chr21:46353302..46357037,3	K562	blood:
18	chr21:46355061..46362857-chr21:46490375..46496482,13	K562	blood:
19	chr21:46348891..46351856-chr21:46356275..46360285,3	K562	blood:
20	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
21	chr21:46352188..46353827-chr21:46357474..46360338,3	K562	blood:
22	chr21:46348334..46352514-chr21:46492914..46497675,5	K562	blood:
23	chr21:46340594..46342742-chr21:46352387..46353896,2	K562	blood:
24	chr21:46344850..46350559-chr21:46353409..46355667,8	K562	blood:
25	chr21:46350809..46352698-chr21:46354017..46355842,3	K562	blood:
26	chr21:46219434..46222664-chr21:46346417..46349763,6	MCF-7	breast:
27	chr21:46221821..46223623-chr21:46352044..46354784,3	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM207A-1	chr21:46347769-46349595	NONHSAT082895
2	lnc-C21orf67-6	chr21:46353199-46354283	NR_027128
3	lnc-C21orf67-6	chr21:46354641-46355011	NR_027129
4	lnc-C21orf67-6	chr21:46355542-46355805	NR_027129
5	lnc-FAM207A-1	chr21:46347769-46349595	NONHSAT082900
6	lnc-C21orf67-6	chr21:46355542-46355805	NR_027128
7	lnc-FAM207A-1	chr21:46347769-46349593	ENSG00000227039
8	lnc-C21orf67-6	chr21:46354849-46355011	NR_027128
9	lnc-FAM207A-1	chr21:46347769-46349595	NONHSAT082897
10	lnc-FAM207A-1	chr21:46347769-46349595	NONHSAT082896
11	lnc-FAM207A-1	chr21:46347769-46349595	NONHSAT082899
12	lnc-FAM207A-1	chr21:46347769-46349595	NONHSAT082898
13	lnc-C21orf67-7	chr21:46349568-46350027	ENSG00000273027.1

No data

Variant related genes	Relation type
ITGB2	TF binding region
ENSG00000272825	TF binding region
FAM207A	TF binding region
ENSG00000273027	TF binding region
ITGB2	CpG island
ENSG00000272825	CpG island
FAM207A	CpG island
ENSG00000273027	CpG island
ENSG00000268856	chromatin interactions
ENSG00000160256	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000183250	chromatin interactions
ENSG00000273027	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000160255	chromatin interactions
ENSG00000227039	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000183255	chromatin interactions

Extended variants
information (count: 269 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1721	chr21:46349496-46349497	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533170793	chr21:46349497-46349498	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
3	rs62214473	chr21:46349515-46349516	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
4	rs373674959	chr21:46349535-46349536	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
5	rs11702488	chr21:46349590-46349591	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565902656	chr21:46349605-46349606	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
7	rs74626209	chr21:46349618-46349619	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
8	rs558607218	chr21:46349683-46349684	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
9	rs577051552	chr21:46349698-46349699	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
10	rs9983621	chr21:46349702-46349703	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556347144	chr21:46349705-46349706	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
12	rs77723442	chr21:46349727-46349728	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
13	rs567073782	chr21:46349731-46349732	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
14	rs147936664	chr21:46349732-46349733	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
15	rs193246161	chr21:46349746-46349747	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
16	rs35374645	chr21:46349765-46349766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
17	rs571972838	chr21:46349783-46349784	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
18	rs545765344	chr21:46349808-46349809	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
19	rs564665474	chr21:46349809-46349810	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
20	rs531882478	chr21:46349838-46349839	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
21	rs13050784	chr21:46349861-46349862	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
22	rs13047156	chr21:46349862-46349863	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
23	rs73906949	chr21:46349881-46349882	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs9974949	chr21:46349888-46349889	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7281820	chr21:46349942-46349943	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547458478	chr21:46349959-46349960	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
27	rs566144209	chr21:46349964-46349965	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
28	rs533206752	chr21:46349970-46349971	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
29	rs9975055	chr21:46350019-46350020	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570658612	chr21:46350044-46350045	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs538098068	chr21:46350053-46350054	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs386819234	chr21:46350059-46350060	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs7276960	chr21:46350065-46350066	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184479471	chr21:46350115-46350116	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs553618806	chr21:46350261-46350262	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs73226621	chr21:46350303-46350304	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs543468130	chr21:46350304-46350305	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs557691267	chr21:46350326-46350327	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs576341418	chr21:46350339-46350340	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs543676673	chr21:46350400-46350401	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs561969498	chr21:46350404-46350405	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs529473836	chr21:46350415-46350416	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs541597280	chr21:46350473-46350474	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs188193438	chr21:46350480-46350481	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs533417151	chr21:46350513-46350514	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs551494432	chr21:46350533-46350534	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs2014191	chr21:46350534-46350535	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181338363	chr21:46350549-46350550	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs550125957	chr21:46350551-46350552	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs568344119	chr21:46350640-46350641	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Autism	22495311	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
Breast cancer	21858162	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
Acute myeloid leukemia	21251322	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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46340600-46351400	Weak transcription	Right Atrium	heart
2	chr21:46344400-46349800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:46345600-46351200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr21:46346000-46352000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr21:46346200-46352200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr21:46347000-46351800	Enhancers	Spleen	Spleen
7	chr21:46347400-46349600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr21:46348200-46351000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr21:46348200-46351200	Enhancers	Primary hematopoietic stem cells	blood
10	chr21:46348200-46351400	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr21:46348400-46349600	Enhancers	HSMMtube	muscle
12	chr21:46348400-46350200	Enhancers	Dnd41	blood
13	chr21:46348400-46350600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr21:46348400-46350800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr21:46348400-46351000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr21:46348600-46349600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr21:46348600-46349600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr21:46348600-46349800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:46348600-46350000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr21:46348600-46350400	Enhancers	HMEC	breast
21	chr21:46348600-46350600	Enhancers	Primary B cells from peripheral blood	blood
22	chr21:46348600-46350600	Enhancers	Thymus	Thymus
23	chr21:46348600-46350800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr21:46348800-46349600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr21:46348800-46349800	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr21:46348800-46350200	Enhancers	Primary B cells from cord blood	blood
27	chr21:46349000-46349600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr21:46349000-46349800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
29	chr21:46349000-46350200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr21:46349000-46351800	Flanking Active TSS	GM12878-XiMat	blood
31	chr21:46349200-46349600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr21:46349200-46349600	Enhancers	HepG2	liver
33	chr21:46349200-46349600	Enhancers	Osteobl	bone
34	chr21:46349200-46349800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr21:46349200-46350000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr21:46349200-46350200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr21:46349200-46350600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr21:46349200-46351200	Weak transcription	A549	lung
39	chr21:46349400-46349600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr21:46349400-46349600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr21:46349400-46349600	Enhancers	Liver	Liver
42	chr21:46349400-46350000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr21:46349400-46350200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr21:46349400-46350200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr21:46349400-46350200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr21:46349400-46350200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr21:46349400-46350200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr21:46349400-46350200	Enhancers	Fetal Thymus	thymus
49	chr21:46349400-46350600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr21:46349400-46350600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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