Variant report

Variant	nsv470906
Chromosome Location	chr21:45627976-45661343
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1439)
CpG islands
(count:674)
Chromatin interactive
region (count:87)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1439 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:45638537-45638623	K562	blood:	n/a	n/a
2	ATF1	chr21:45638353-45638745	K562	blood:	n/a	n/a
3	ATF1	chr21:45627754-45628197	K562	blood:	n/a	n/a
4	ATF2	chr21:45660897-45661505	GM12878	blood:	n/a	n/a
5	ATF2	chr21:45661142-45661447	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr21:45645993-45646313	GM12878	blood:	n/a	n/a
7	ATF2	chr21:45638216-45638736	GM12878	blood:	n/a	n/a
8	ATF2	chr21:45632208-45632642	GM12878	blood:	n/a	n/a
9	ATF2	chr21:45643069-45643615	GM12878	blood:	n/a	n/a
10	ATF2	chr21:45631647-45632775	GM12878	blood:	n/a	n/a
11	ATF2	chr21:45644973-45645453	GM12878	blood:	n/a	n/a
12	ATF2	chr21:45639835-45640899	GM12878	blood:	n/a	n/a
13	ATF2	chr21:45634976-45635407	GM12878	blood:	n/a	n/a
14	ATF2	chr21:45645532-45645947	GM12878	blood:	n/a	n/a
15	ATF2	chr21:45626321-45628146	GM12878	blood:	n/a	n/a
16	ATF2	chr21:45642852-45643678	GM12878	blood:	n/a	n/a
17	ATF3	chr21:45627837-45628247	K562	blood:	n/a	n/a
18	BACH1	chr21:45659298-45659463	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr21:45660074-45660377	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr21:45660721-45661606	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr21:45635177-45635735	GM12878	blood:	n/a	n/a
22	BATF	chr21:45635423-45635665	GM12878	blood:	n/a	n/a
23	BATF	chr21:45643665-45643873	GM12878	blood:	n/a	n/a
24	BCL11A	chr21:45640590-45640939	GM12878	blood:	n/a	n/a
25	BCL3	chr21:45642910-45643599	GM12878	blood:	n/a	n/a
26	BCL3	chr21:45644514-45644918	GM12878	blood:	n/a	n/a
27	BCL3	chr21:45631415-45632600	GM12878	blood:	n/a	n/a
28	BCL3	chr21:45631471-45632171	GM12878	blood:	n/a	n/a
29	BCL3	chr21:45643067-45643453	GM12878	blood:	n/a	n/a
30	BCLAF1	chr21:45660978-45661526	GM12878	blood:	n/a	n/a
31	BCLAF1	chr21:45644591-45644913	GM12878	blood:	n/a	n/a
32	BCLAF1	chr21:45639703-45640268	GM12878	blood:	n/a	n/a
33	BCLAF1	chr21:45631987-45632771	GM12878	blood:	n/a	chr21:45632621-45632630
34	BCLAF1	chr21:45626329-45628360	GM12878	blood:	n/a	chr21:45627372-45627381
35	BCLAF1	chr21:45626458-45628055	GM12878	blood:	n/a	chr21:45627372-45627381
36	BCLAF1	chr21:45639813-45640874	GM12878	blood:	n/a	n/a
37	BCLAF1	chr21:45631717-45632370	GM12878	blood:	n/a	n/a
38	BCLAF1	chr21:45640318-45640949	GM12878	blood:	n/a	n/a
39	BCLAF1	chr21:45635123-45635688	GM12878	blood:	n/a	n/a
40	BCLAF1	chr21:45638337-45638932	GM12878	blood:	n/a	n/a
41	BCLAF1	chr21:45643065-45643655	GM12878	blood:	n/a	n/a
42	BCLAF1	chr21:45638339-45638846	GM12878	blood:	n/a	n/a
43	BCLAF1	chr21:45642995-45643445	GM12878	blood:	n/a	n/a
44	BHLHE40	chr21:45626173-45628119	GM12878	blood:	n/a	chr21:45626334-45626350
45	BHLHE40	chr21:45627566-45628378	K562	blood:	n/a	n/a
46	BHLHE40	chr21:45632226-45632563	GM12878	blood:	n/a	n/a
47	BHLHE40	chr21:45658668-45659026	GM12878	blood:	n/a	chr21:45658925-45658941
48	BHLHE40	chr21:45638323-45638771	GM12878	blood:	n/a	n/a
49	BHLHE40	chr21:45643200-45643533	GM12878	blood:	n/a	n/a
50	BHLHE40	chr21:45643251-45643508	HepG2	liver:	n/a	n/a

(count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45660251-45660301	NT2-D1	testis:	n/a
2	chr21:45661066-45661116	HAEpiC	amniotic membrane:	n/a
3	chr21:45656979-45657029	AG04449	skin:	fetal
4	chr21:45660251-45660301	NT2-D1	testis:	n/a
5	chr21:45661066-45661116	HAEpiC	amniotic membrane:	n/a
6	chr21:45656979-45657029	AG04449	skin:	fetal
7	chr21:45660251-45660301	MCF10A-Er-Src	breast:	n/a
8	chr21:45658538-45658588	GM12891	blood:	n/a
9	chr21:45661322-45661372	A549	lung:	n/a
10	chr21:45660826-45660876	SKMC	muscle:	n/a
11	chr21:45648328-45648378	HCM	heart:	n/a
12	chr21:45660826-45660876	NHBE	bronchial:	n/a
13	chr21:45656979-45657029	SK-N-SH_RA	brain:	n/a
14	chr21:45660251-45660301	PANC-1	pancreas:	n/a
15	chr21:45661322-45661372	HRE	kidney:	n/a
16	chr21:45660826-45660876	GM19239	blood:	n/a
17	chr21:45648328-45648378	RPTEC	kidney:	n/a
18	chr21:45660826-45660876	BJ	skin:	n/a
19	chr21:45660251-45660301	HEEpiC	esophagus:	n/a
20	chr21:45660251-45660301	HL-60	blood:	n/a
21	chr21:45661261-45661311	HAEpiC	amniotic membrane:	n/a
22	chr21:45660806-45660856	AG10803	skin:	n/a
23	chr21:45660806-45660856	HEK293	kidney:	embryo
24	chr21:45660251-45660301	HIPEpiC	eye:	n/a
25	chr21:45660288-45660338	A549	lung:	n/a
26	chr21:45661322-45661372	MCF10A-Er-Src	breast:	n/a
27	chr21:45660288-45660338	AG09309	skin:	n/a
28	chr21:45660251-45660301	HRCEpiC	kidney:	n/a
29	chr21:45656979-45657029	SAEC	small airway:	n/a
30	chr21:45660288-45660338	Jurkat	blood:	n/a
31	chr21:45660826-45660876	ECC-1	luminal epithelium:	n/a
32	chr21:45660251-45660301	HCM	heart:	n/a
33	chr21:45660806-45660856	GM12891	blood:	n/a
34	chr21:45660251-45660301	Caco-2	colon:	n/a
35	chr21:45661261-45661311	CMK	blood:	n/a
36	chr21:45656979-45657029	H1-hESC	embryonic stem cell:	embryo
37	chr21:45660806-45660856	SK-N-MC	brain:	n/a
38	chr21:45648328-45648378	LNCaP	prostate:	n/a
39	chr21:45660251-45660301	SKMC	muscle:	n/a
40	chr21:45660288-45660338	GM12892	blood:	n/a
41	chr21:45660288-45660338	HCM	heart:	n/a
42	chr21:45648328-45648378	GM19239	blood:	n/a
43	chr21:45661322-45661372	NHBE	bronchial:	n/a
44	chr21:45658538-45658588	NB4	blood:	n/a
45	chr21:45661261-45661311	SKMC	muscle:	n/a
46	chr21:45661066-45661116	SAEC	small airway:	n/a
47	chr21:45661261-45661311	NH-A	brain:	n/a
48	chr21:45660826-45660876	HNPCEpiC	eye:	n/a
49	chr21:45658683-45658733	GM12891	blood:	n/a
50	chr21:45660826-45660876	Hela-S3	cervix:	n/a

(count:87 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:45638620..45641640-chr21:45644035..45648127,5	MCF-7	breast:
2	chr21:45625593..45629065-chr21:45717787..45720760,5	MCF-7	breast:
3	chr21:45634893..45639040-chr21:45644730..45647153,4	K562	blood:
4	chr21:45659357..45660947-chr21:45724270..45726623,2	MCF-7	breast:
5	chr21:45638620..45641640-chr21:45644035..45648127,5	MCF-7	breast:
6	chr1:39456825..39457431-chr21:45660378..45660885,2	HCT-116	colon:
7	chr21:45641049..45643518-chr21:45653800..45656237,3	MCF-7	breast:
8	chr21:45626756..45628836-chr21:45644780..45646727,2	MCF-7	breast:
9	chr21:45638138..45641604-chr21:45643124..45645379,3	MCF-7	breast:
10	chr21:45621066..45623314-chr21:45644215..45646761,3	MCF-7	breast:
11	chr21:45633493..45635981-chr21:45638938..45640638,2	MCF-7	breast:
12	chr21:45631740..45633911-chr21:45635590..45640208,4	MCF-7	breast:
13	chr21:45646702..45648292-chr21:45653569..45655445,2	K562	blood:
14	chr21:45652888..45655388-chr21:45722898..45725188,2	MCF-7	breast:
15	chr21:45571301..45575033-chr21:45652281..45654701,3	MCF-7	breast:
16	chr21:45643593..45646374-chr21:45668943..45670468,2	K562	blood:
17	chr21:45644108..45645781-chr21:45647217..45649363,2	MCF-7	breast:
18	chr21:45644990..45647896-chr21:45648106..45650288,2	K562	blood:
19	chr21:45625272..45628072-chr21:45645841..45648362,2	K562	blood:
20	chr21:45561699..45563814-chr21:45648554..45651236,3	K562	blood:
21	chr21:45626157..45628593-chr21:45648782..45651445,2	MCF-7	breast:
22	chr21:45628810..45630554-chr21:45636671..45638693,2	K562	blood:
23	chr21:45638024..45640421-chr21:45658228..45660769,4	MCF-7	breast:
24	chr21:45634893..45639040-chr21:45644730..45647153,3	K562	blood:
25	chr21:45561699..45563359-chr21:45648827..45651236,2	K562	blood:
26	chr21:45585070..45587795-chr21:45647222..45649775,2	K562	blood:
27	chr21:45628810..45630554-chr21:45636671..45638693,2	K562	blood:
28	chr21:45626500..45630389-chr21:45636831..45640533,5	MCF-7	breast:
29	chr21:45621786..45624650-chr21:45632661..45635247,3	MCF-7	breast:
30	chr21:45646352..45648342-chr21:45670015..45672115,2	MCF-7	breast:
31	chr21:45590531..45598113-chr21:45625237..45630055,9	MCF-7	breast:
32	chr21:45631200..45631884-chr4:2306687..2307191,2	MCF-7	breast:
33	chr21:45637599..45639295-chr21:45647938..45650241,2	MCF-7	breast:
34	chr21:45644108..45645781-chr21:45647217..45649363,2	MCF-7	breast:
35	chr21:45637599..45639295-chr21:45647938..45650241,2	MCF-7	breast:
36	chr21:45638138..45641604-chr21:45643124..45645379,3	MCF-7	breast:
37	chr21:45646702..45648292-chr21:45653569..45655445,2	K562	blood:
38	chr21:45621014..45624737-chr21:45625090..45629806,7	K562	blood:
39	chr21:45642545..45644733-chr21:45651214..45653220,2	K562	blood:
40	chr21:45547494..45550018-chr21:45659282..45662155,2	MCF-7	breast:
41	chr21:45555886..45558409-chr21:45626511..45629056,2	MCF-7	breast:
42	chr21:45619816..45631884-chr21:45656529..45663802,30	MCF-7	breast:
43	chr21:45658347..45670658-chr21:45718073..45723358,28	MCF-7	breast:
44	chr21:45588410..45594838-chr21:45658945..45665595,14	MCF-7	breast:
45	chr21:45620311..45631567-chr21:45651002..45670824,52	MCF-7	breast:
46	chr21:45660389..45661266-chr22:29168540..29169241,2	Hela-S3	cervix:
47	chr21:45633515..45635419-chr21:45641635..45644619,2	MCF-7	breast:
48	chr21:45659829..45660717-chr21:45724594..45725347,2	MCF-7	breast:
49	chr21:45620311..45631567-chr21:45651002..45670824,52	MCF-7	breast:
50	chr21:45633493..45635981-chr21:45638938..45640638,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNMT3L-1	chr21:45649156-45649214	l_2231_chr21:45648154-45649214_adipose
2	lnc-DNMT3L-1	chr21:45648155-45648839	l_2231_chr21:45648154-45649214_adipose

No data

Variant related genes	Relation type
ICOSLG	TF binding region
ENSG00000232698	TF binding region
ICOSLG	CpG island
ENSG00000232698	CpG island
ENSG00000159873	chromatin interactions
ENSG00000142182	chromatin interactions
ENSG00000112242	chromatin interactions
ENSG00000267913	chromatin interactions
ENSG00000232010	chromatin interactions
ENSG00000241945	chromatin interactions
ENSG00000232124	chromatin interactions
ENSG00000232698	chromatin interactions
ENSG00000160223	chromatin interactions
ENSG00000141959	chromatin interactions
ENSG00000174574	chromatin interactions
ENSG00000237604	chromatin interactions
ENSG00000160221	chromatin interactions

Extended variants
information (count: 1793 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1793 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2838522	chr21:45627976-45627977	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527614604	chr21:45627992-45627993	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs8126824	chr21:45627997-45627998	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs552164942	chr21:45628003-45628004	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs150295572	chr21:45628026-45628027	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs543006847	chr21:45628029-45628030	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs374300926	chr21:45628030-45628031	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs561442701	chr21:45628060-45628061	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs528529832	chr21:45628075-45628076	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs8132351	chr21:45628080-45628081	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs547066371	chr21:45628085-45628086	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs77491316	chr21:45628093-45628094	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs137884066	chr21:45628103-45628104	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs8128793	chr21:45628111-45628112	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs551291417	chr21:45628143-45628144	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs569586198	chr21:45628167-45628168	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs536664783	chr21:45628187-45628188	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs116636024	chr21:45628277-45628278	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs540602785	chr21:45628296-45628297	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs534468064	chr21:45628319-45628320	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs113388763	chr21:45628320-45628321	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs560493960	chr21:45628353-45628354	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs553026398	chr21:45628367-45628368	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs2838523	chr21:45628374-45628375	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs181551060	chr21:45628399-45628400	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs2838524	chr21:45628401-45628402	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs549855084	chr21:45628455-45628456	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs575967637	chr21:45628484-45628485	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs111819785	chr21:45628491-45628492	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs112832883	chr21:45628503-45628504	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs554712222	chr21:45628509-45628510	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs34560460	chr21:45628546-45628547	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs71322554	chr21:45628553-45628554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs540408266	chr21:45628563-45628564	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs111614208	chr21:45628600-45628601	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs377050799	chr21:45628795-45628796	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs12481932	chr21:45628796-45628797	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs75499413	chr21:45628865-45628866	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs2838525	chr21:45628866-45628867	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs563253825	chr21:45628915-45628916	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs530672568	chr21:45628948-45628949	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs549258114	chr21:45628953-45628954	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs567193048	chr21:45628990-45628991	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs116682877	chr21:45628994-45628995	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs73381322	chr21:45629008-45629009	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs571327692	chr21:45629012-45629013	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs539241999	chr21:45629016-45629017	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs553846404	chr21:45629029-45629030	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs565665375	chr21:45629059-45629060	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs529134902	chr21:45629085-45629086	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Hodgkin''s lymphoma	18641027	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
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD
Down syndrome	21154855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1262 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45622800-45629800	Enhancers	Placenta	Placenta
2	chr21:45623000-45629400	Enhancers	K562	blood
3	chr21:45623000-45629800	Enhancers	Fetal Muscle Leg	muscle
4	chr21:45624200-45628000	Enhancers	Fetal Lung	lung
5	chr21:45624200-45628800	Enhancers	Fetal Stomach	stomach
6	chr21:45624600-45628000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr21:45624600-45629200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:45624800-45628200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr21:45625200-45629600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr21:45625400-45628400	Enhancers	Small Intestine	intestine
11	chr21:45625400-45628800	Enhancers	NHLF	lung
12	chr21:45625400-45629000	Enhancers	Fetal Thymus	thymus
13	chr21:45625400-45629400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr21:45625400-45630200	Enhancers	Primary hematopoietic stem cells	blood
15	chr21:45625800-45628800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr21:45625800-45629200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr21:45625800-45629600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr21:45626000-45628400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr21:45626000-45628400	Enhancers	Fetal Intestine Large	intestine
20	chr21:45626000-45628400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr21:45626000-45628600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:45626000-45628600	Enhancers	Fetal Intestine Small	intestine
23	chr21:45626000-45628600	Enhancers	Pancreas	Pancrea
24	chr21:45626000-45628800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr21:45626000-45628800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr21:45626000-45628800	Enhancers	Lung	lung
27	chr21:45626000-45628800	Enhancers	Spleen	Spleen
28	chr21:45626000-45629000	Enhancers	Adipose Nuclei	Adipose
29	chr21:45626000-45629000	Flanking Active TSS	GM12878-XiMat	blood
30	chr21:45626000-45629200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr21:45626000-45629400	Enhancers	Esophagus	oesophagus
32	chr21:45626200-45628000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr21:45626200-45628600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr21:45626200-45628600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr21:45626200-45628800	Enhancers	Left Ventricle	heart
36	chr21:45626200-45629000	Enhancers	Right Ventricle	heart
37	chr21:45626200-45629000	Enhancers	NHEK	skin
38	chr21:45626400-45628200	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr21:45626400-45628600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr21:45626400-45628800	Enhancers	Fetal Kidney	kidney
41	chr21:45626600-45628000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr21:45626600-45628200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr21:45626600-45628400	Enhancers	Thymus	Thymus
44	chr21:45626600-45629800	Enhancers	HUVEC	blood vessel
45	chr21:45626800-45628600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr21:45626800-45628600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr21:45626800-45628600	Enhancers	Right Atrium	heart
48	chr21:45626800-45629000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr21:45626800-45629000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr21:45626800-45629200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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