Variant report

Variant	nsv587742
Chromosome Location	chr21:45668171-45703660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:810)
CpG islands
(count:733)
Chromatin interactive
region (count:74)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:810 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:45668376-45668445	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:45668904-45669828	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:45687573-45687691	K562	blood:	n/a	n/a
4	ARID3A	chr21:45687514-45687872	HepG2	liver:	n/a	n/a
5	ATF1	chr21:45669378-45669652	K562	blood:	n/a	n/a
6	ATF2	chr21:45667764-45668642	GM12878	blood:	n/a	n/a
7	ATF2	chr21:45667830-45668613	GM12878	blood:	n/a	n/a
8	ATF3	chr21:45669179-45669683	HepG2	liver:	n/a	n/a
9	ATF3	chr21:45669200-45669567	HepG2	liver:	n/a	n/a
10	BATF	chr21:45667800-45668583	GM12878	blood:	n/a	n/a
11	BCL11A	chr21:45667758-45668595	GM12878	blood:	n/a	chr21:45668127-45668136
12	BCL3	chr21:45667377-45668770	GM12878	blood:	n/a	chr21:45668127-45668136 chr21:45667531-45667539
13	BCL3	chr21:45668029-45668728	GM12878	blood:	n/a	chr21:45668127-45668136
14	BCLAF1	chr21:45667789-45668626	GM12878	blood:	n/a	chr21:45668127-45668136
15	BHLHE40	chr21:45669183-45669758	K562	blood:	n/a	n/a
16	BHLHE40	chr21:45667790-45668546	K562	blood:	n/a	n/a
17	BHLHE40	chr21:45702375-45702509	GM12878	blood:	n/a	n/a
18	BHLHE40	chr21:45687402-45688012	K562	blood:	n/a	n/a
19	BHLHE40	chr21:45670995-45671350	K562	blood:	n/a	n/a
20	BHLHE40	chr21:45667366-45668621	GM12878	blood:	n/a	n/a
21	BHLHE40	chr21:45668819-45668977	K562	blood:	n/a	n/a
22	BHLHE40	chr21:45670232-45670403	K562	blood:	n/a	n/a
23	BHLHE40	chr21:45669141-45669622	HepG2	liver:	n/a	n/a
24	BHLHE40	chr21:45669000-45671362	HepG2	liver:	n/a	n/a
25	BRCA1	chr21:45669114-45669314	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr21:45668529-45668536	HepG2	liver:	n/a	n/a
27	BRCA1	chr21:45669540-45669776	HepG2	liver:	n/a	n/a
28	BRCA1	chr21:45674895-45675214	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr21:45670135-45670331	HepG2	liver:	n/a	n/a
30	CCNT2	chr21:45669018-45669176	K562	blood:	n/a	n/a
31	CCNT2	chr21:45668674-45668675	K562	blood:	n/a	n/a
32	CCNT2	chr21:45669420-45669659	K562	blood:	n/a	n/a
33	CCNT2	chr21:45674325-45674471	K562	blood:	n/a	n/a
34	CEBPB	chr21:45669446-45669663	A549	lung:	n/a	n/a
35	CEBPB	chr21:45687551-45687737	HepG2	liver:	n/a	n/a
36	CEBPB	chr21:45669075-45669829	HepG2	liver:	n/a	n/a
37	CEBPB	chr21:45669244-45669770	K562	blood:	n/a	n/a
38	CEBPB	chr21:45668980-45669339	MCF-7	breast:	n/a	n/a
39	CEBPB	chr21:45668874-45669766	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr21:45670291-45670428	HepG2	liver:	n/a	n/a
41	CEBPB	chr21:45669121-45669364	HepG2	liver:	n/a	n/a
42	CEBPB	chr21:45668919-45669410	MCF-7	breast:	n/a	n/a
43	CEBPB	chr21:45686668-45686740	HepG2	liver:	n/a	n/a
44	CEBPB	chr21:45669104-45669749	A549	lung:	n/a	n/a
45	CEBPB	chr21:45668198-45668698	GM12878	blood:	n/a	n/a
46	CEBPB	chr21:45669062-45669330	ECC-1	luminal epithelium:	n/a	n/a
47	CEBPB	chr21:45687523-45687782	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr21:45668817-45669871	HepG2	liver:	n/a	n/a
49	CEBPB	chr21:45669022-45669406	ECC-1	luminal epithelium:	n/a	n/a
50	CEBPB	chr21:45668934-45669791	HepG2	liver:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45678406-45678456	HUVEC	blood vessel:	n/a
2	chr21:45678406-45678456	HUVEC	blood vessel:	n/a
3	chr21:45683146-45683196	ECC-1	luminal epithelium:	n/a
4	chr21:45678543-45678593	NHBE	bronchial:	n/a
5	chr21:45683528-45683578	LNCaP	prostate:	n/a
6	chr21:45678406-45678456	HEEpiC	esophagus:	n/a
7	chr21:45678406-45678456	SK-N-SH	brain:	n/a
8	chr21:45683528-45683578	HEEpiC	esophagus:	n/a
9	chr21:45683513-45683563	H1-hESC	embryonic stem cell:	embryo
10	chr21:45678303-45678353	T-47D	breast:	n/a
11	chr21:45675982-45676032	RPTEC	kidney:	n/a
12	chr21:45678137-45678187	HNPCEpiC	eye:	n/a
13	chr21:45678406-45678456	U87	brain:	n/a
14	chr21:45678303-45678353	GM19239	blood:	n/a
15	chr21:45678137-45678187	ECC-1	luminal epithelium:	n/a
16	chr21:45683146-45683196	HEK293	kidney:	embryo
17	chr21:45679577-45679627	Hepatocyte	liver:	n/a
18	chr21:45678137-45678187	BJ	skin:	n/a
19	chr21:45702039-45702089	ECC-1	luminal epithelium:	n/a
20	chr21:45678137-45678187	HRE	kidney:	n/a
21	chr21:45683528-45683578	Jurkat	blood:	n/a
22	chr21:45683302-45683352	CMK	blood:	n/a
23	chr21:45681834-45681884	U87	brain:	n/a
24	chr21:45681834-45681884	HMEC	breast:	n/a
25	chr21:45679577-45679627	K562	blood:	n/a
26	chr21:45678303-45678353	SK-N-MC	brain:	n/a
27	chr21:45675982-45676032	SK-N-SH_RA	brain:	n/a
28	chr21:45683528-45683578	MCF-7	breast:	n/a
29	chr21:45675982-45676032	AG09319	gingival:	n/a
30	chr21:45678303-45678353	K562	blood:	n/a
31	chr21:45683528-45683578	HNPCEpiC	eye:	n/a
32	chr21:45683528-45683578	HepG2	liver:	n/a
33	chr21:45683302-45683352	HRE	kidney:	n/a
34	chr21:45678406-45678456	GM12878	blood:	n/a
35	chr21:45702039-45702089	Jurkat	blood:	n/a
36	chr21:45679577-45679627	BE2_C	brain:	n/a
37	chr21:45678406-45678456	HRCEpiC	kidney:	n/a
38	chr21:45678137-45678187	A549	lung:	n/a
39	chr21:45683513-45683563	LNCaP	prostate:	n/a
40	chr21:45683302-45683352	BE2_C	brain:	n/a
41	chr21:45702039-45702089	IMR90	lung:	fetal
42	chr21:45683528-45683578	CMK	blood:	n/a
43	chr21:45678303-45678353	NB4	blood:	n/a
44	chr21:45678406-45678456	AoSMC	blood vessel:	n/a
45	chr21:45702039-45702089	GM12891	blood:	n/a
46	chr21:45678543-45678593	AG10803	skin:	n/a
47	chr21:45675982-45676032	HRE	kidney:	n/a
48	chr21:45679577-45679627	GM12891	blood:	n/a
49	chr21:45683528-45683578	HCPEpiC	choroid plexus:	n/a
50	chr21:45683146-45683196	HMEC	breast:	n/a

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:45566713..45567664-chr21:45669117..45669820,2	MCF-7	breast:
2	chr21:45661313..45662834-chr21:45667668..45669826,2	K562	blood:
3	chr21:45654371..45654896-chr21:45687445..45688145,2	K562	blood:
4	chr21:45557605..45558493-chr21:45687590..45688226,4	MCF-7	breast:
5	chr21:45612553..45615742-chr21:45666296..45670643,3	MCF-7	breast:
6	chr21:45604092..45606788-chr21:45665830..45668465,2	MCF-7	breast:
7	chr21:45679421..45681484-chr21:45691729..45694649,2	MCF-7	breast:
8	chr21:45565598..45568910-chr21:45683665..45687558,4	MCF-7	breast:
9	chr21:45567022..45569875-chr21:45667189..45669320,3	MCF-7	breast:
10	chr21:45667126..45669380-chr21:45704242..45707201,2	MCF-7	breast:
11	chr21:45568433..45570363-chr21:45694165..45695701,2	MCF-7	breast:
12	chr21:45659418..45662938-chr21:45698078..45703771,5	MCF-7	breast:
13	chr21:45675362..45677457-chr21:45707030..45709484,2	K562	blood:
14	chr21:45661660..45663213-chr21:45700955..45703674,2	K562	blood:
15	chr21:45553033..45555286-chr21:45666836..45668828,2	MCF-7	breast:
16	chr21:45667021..45669149-chr21:45714307..45715879,2	MCF-7	breast:
17	chr21:45680895..45685107-chr21:45717932..45721130,4	MCF-7	breast:
18	chr21:45565887..45566563-chr21:45687420..45688175,3	MCF-7	breast:
19	chr21:45686069..45687647-chr21:45693392..45695826,2	MCF-7	breast:
20	chr21:45680024..45682686-chr21:45686763..45689185,2	MCF-7	breast:
21	chr21:45659396..45661208-chr21:45675575..45677572,2	K562	blood:
22	chr21:45566780..45567628-chr21:45687398..45688266,6	MCF-7	breast:
23	chr21:45677174..45681552-chr21:45685520..45688325,5	K562	blood:
24	chr21:45557344..45559902-chr21:45666476..45668676,2	MCF-7	breast:
25	chr21:45667184..45669344-chr21:45671448..45673018,2	K562	blood:
26	chr21:45671627..45673914-chr21:45675329..45677455,2	K562	blood:
27	chr21:45658347..45670658-chr21:45718073..45723358,28	MCF-7	breast:
28	chr21:45620985..45623729-chr21:45685663..45688177,2	MCF-7	breast:
29	chr21:45676552..45678534-chr21:45719639..45721347,2	MCF-7	breast:
30	chr21:45399321..45400230-chr21:45687198..45688294,3	K562	blood:
31	chr21:45666127..45668389-chr21:45719214..45721202,2	K562	blood:
32	chr21:45689868..45692167-chr21:45702477..45704899,2	K562	blood:
33	chr21:45667662..45673123-chr21:45716367..45722484,9	MCF-7	breast:
34	chr21:45533786..45534376-chr21:45687482..45688014,2	K562	blood:
35	chr21:45677174..45681552-chr21:45685520..45688325,5	K562	blood:
36	chr21:45561902..45563640-chr21:45668717..45670497,2	MCF-7	breast:
37	chr21:45671627..45673914-chr21:45675329..45677455,2	K562	blood:
38	chr21:45678302..45680831-chr21:45686072..45687676,2	MCF-7	breast:
39	chr21:45678302..45680831-chr21:45686072..45687676,2	MCF-7	breast:
40	chr21:45566739..45567723-chr21:45686774..45688389,6	MCF-7	breast:
41	chr21:45703655..45709073-chr21:45718662..45721905,6	MCF-7	breast:
42	chr21:45688481..45690042-chr21:45719293..45721540,2	MCF-7	breast:
43	chr21:45663828..45666335-chr21:45687884..45690743,2	MCF-7	breast:
44	chr21:45644343..45646450-chr21:45701805..45703427,2	MCF-7	breast:
45	chr21:45622485..45624278-chr21:45668242..45670471,2	MCF-7	breast:
46	chr21:45664074..45664939-chr21:45687442..45688212,2	MCF-7	breast:
47	chr21:45692048..45693952-chr21:45722108..45724674,2	K562	blood:
48	chr21:45691409..45693575-chr21:45710437..45713277,2	MCF-7	breast:
49	chr21:45675362..45678242-chr21:45707030..45708929,2	K562	blood:
50	chr21:45668918..45671490-chr21:45672484..45676954,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AIRE-1	chr21:45671010-45671403	ENSG00000232010.1
2	lnc-AIRE-1	chr21:45670696-45670824	ENSG00000232010.1

No data

Variant related genes	Relation type
ENSG00000232010	TF binding region
DNMT3L	TF binding region
AIRE	TF binding region
ENSG00000232010	CpG island
DNMT3L	CpG island
AIRE	CpG island
ENSG00000141959	chromatin interactions
ENSG00000160223	chromatin interactions
ENSG00000142182	chromatin interactions
ENSG00000232698	chromatin interactions
ENSG00000160221	chromatin interactions
ENSG00000232124	chromatin interactions
ENSG00000160224	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000232010	chromatin interactions

Extended variants
information (count: 1775 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1775 , 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	rs3788111	chr21:45668171-45668172	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181920034	chr21:45668175-45668176	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs542423026	chr21:45668180-45668181	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs560640283	chr21:45668181-45668182	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs529775083	chr21:45668184-45668185	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs572779062	chr21:45668193-45668194	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs117716885	chr21:45668194-45668195	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs564760746	chr21:45668200-45668201	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs531779802	chr21:45668255-45668256	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs549886951	chr21:45668268-45668269	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs562246597	chr21:45668269-45668270	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs529336766	chr21:45668272-45668273	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs548007428	chr21:45668279-45668280	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs566286560	chr21:45668313-45668314	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs533727527	chr21:45668318-45668319	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs117124370	chr21:45668321-45668322	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs570632051	chr21:45668347-45668348	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs547915584	chr21:45668380-45668381	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs537880550	chr21:45668383-45668384	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs187563619	chr21:45668384-45668385	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs188149936	chr21:45668402-45668403	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs544134900	chr21:45668421-45668422	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs535495335	chr21:45668460-45668461	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs367732649	chr21:45668465-45668466	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs367964144	chr21:45668471-45668472	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs144929889	chr21:45668477-45668478	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs554416161	chr21:45668478-45668479	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs572718099	chr21:45668506-45668507	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs546417447	chr21:45668520-45668521	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs564799498	chr21:45668529-45668530	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs576651998	chr21:45668547-45668548	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs543816922	chr21:45668551-45668552	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs180991107	chr21:45668558-45668559	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs145005956	chr21:45668559-45668560	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs547523129	chr21:45668600-45668601	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs59515868	chr21:45668626-45668627	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs527508936	chr21:45668642-45668643	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs138845506	chr21:45668678-45668679	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs570738092	chr21:45668679-45668680	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs531476950	chr21:45668707-45668708	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs549752680	chr21:45668723-45668724	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs567922841	chr21:45668736-45668737	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs535434017	chr21:45668739-45668740	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs142043307	chr21:45668767-45668768	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs565760558	chr21:45668774-45668775	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs146363673	chr21:45668775-45668776	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs558036451	chr21:45668778-45668779	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs185615657	chr21:45668785-45668786	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs112203126	chr21:45668795-45668796	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs555744961	chr21:45668831-45668832	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45661800-45668200	Enhancers	Liver	Liver
2	chr21:45662800-45705600	Weak transcription	Right Atrium	heart
3	chr21:45663600-45670400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr21:45663800-45668400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr21:45663800-45668400	Enhancers	HepG2	liver
6	chr21:45663800-45669600	Enhancers	Fetal Intestine Large	intestine
7	chr21:45664000-45671800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:45664400-45668200	Weak transcription	Gastric	stomach
9	chr21:45664400-45668400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr21:45664600-45669400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:45664600-45669800	Enhancers	Primary B cells from peripheral blood	blood
12	chr21:45665200-45668400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr21:45665200-45669000	Enhancers	Primary B cells from cord blood	blood
14	chr21:45665600-45669400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr21:45665600-45670400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr21:45665800-45669400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr21:45666000-45669200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:45666200-45681000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr21:45666400-45669600	Enhancers	Fetal Intestine Small	intestine
20	chr21:45666600-45669600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr21:45666600-45669600	Enhancers	Fetal Thymus	thymus
22	chr21:45666800-45668200	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr21:45666800-45669600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr21:45666800-45670000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr21:45667000-45668400	Flanking Active TSS	GM12878-XiMat	blood
26	chr21:45667000-45669200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr21:45667000-45669200	Enhancers	Duodenum Mucosa	Duodenum
28	chr21:45667000-45670800	Enhancers	Esophagus	oesophagus
29	chr21:45667200-45668400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr21:45667200-45668400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr21:45667400-45670000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr21:45667400-45670200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr21:45667400-45670200	Bivalent Enhancer	Colonic Mucosa	Colon
34	chr21:45667400-45670400	Bivalent Enhancer	Placenta	Placenta
35	chr21:45667600-45668400	Genic enhancers	Spleen	Spleen
36	chr21:45667800-45668600	Bivalent Enhancer	K562	blood
37	chr21:45667800-45668800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr21:45667800-45669800	Enhancers	HSMMtube	muscle
39	chr21:45667800-45670000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr21:45667800-45670600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr21:45668000-45668200	Bivalent Enhancer	Fetal Kidney	kidney
42	chr21:45668000-45668200	Bivalent Enhancer	NHEK	skin
43	chr21:45668000-45668600	Enhancers	Hela-S3	cervix
44	chr21:45668000-45669200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr21:45668000-45671000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr21:45668200-45668600	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
47	chr21:45668200-45668600	Enhancers	Lung	lung
48	chr21:45668200-45668800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr21:45668200-45668800	Bivalent Enhancer	HSMM	muscle
50	chr21:45668200-45669200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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