Variant report

Variant	esv3362556
Chromosome Location	chr21:45874049-45876897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr21:45875420-45875923	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr21:45875801-45876058	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr21:45875823-45876019	Hela-S3	cervix:	n/a	n/a
4	CHD2	chr21:45874948-45875420	Hela-S3	cervix:	n/a	n/a
5	CHD2	chr21:45875111-45875176	HepG2	liver:	n/a	n/a
6	CHD2	chr21:45874928-45875272	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr21:45875791-45875935	Hela-S3	cervix:	n/a	chr21:45875798-45875805
8	CREB1	chr21:45874910-45875482	H1-hESC	embryonic stem cell:	n/a	n/a
9	CREB1	chr21:45874975-45875181	A549	lung:	n/a	n/a
10	CTCF	chr21:45875880-45876030	SK-N-SH_RA	brain:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
11	CTCF	chr21:45875815-45876073	A549	lung:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
12	CTCF	chr21:45875815-45876086	Fibrobl	skin:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
13	CTCF	chr21:45875925-45875979	Gliobla	brain:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
14	CTCF	chr21:45875850-45876061	GM13977	blood:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
15	CTCF	chr21:45875880-45876030	HRPEpiC	eye:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
16	CTCF	chr21:45875858-45876051	GM13976	blood:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
17	CTCF	chr21:45875940-45876090	GM12870	blood:	n/a	n/a
18	CTCF	chr21:45875840-45875990	GM12874	blood:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
19	CTCF	chr21:45875815-45876103	GM12891	blood:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
20	CTCF	chr21:45875837-45876068	MCF-7	breast:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
21	CTCF	chr21:45875839-45876035	GM12878	blood:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
22	CTCF	chr21:45875844-45876095	Spleen_OC	spleen:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
23	CTCF	chr21:45875880-45876030	HCFaa	heart:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
24	CTCF	chr21:45875827-45876052	Pancreas_OC	pancreas:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
25	CTCF	chr21:45875856-45876033	H1-hESC	embryonic stem cell:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
26	CTCF	chr21:45875840-45875990	GM12866	blood:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
27	CTCF	chr21:45875820-45875970	HCM	heart:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
28	CTCF	chr21:45875880-45876030	HPAF	blood vessel:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
29	CTCF	chr21:45875860-45876150	GM12871	blood:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
30	CTCF	chr21:45875840-45875990	AG09319	gingival:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
31	CTCF	chr21:45875864-45876040	LNCaP	prostate:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
32	CTCF	chr21:45875826-45876080	NHEK	skin:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
33	CTCF	chr21:45875840-45875990	GM12878	blood:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
34	CTCF	chr21:45875815-45876083	MCF-7	breast:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
35	CTCF	chr21:45875860-45876010	HMEC	breast:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
36	CTCF	chr21:45875880-45876030	AG09309	skin:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
37	CTCF	chr21:45875860-45876010	GM12869	blood:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
38	CTCF	chr21:45875809-45876007	SK-N-SH_RA	brain:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
39	CTCF	chr21:45875840-45875990	AG10803	skin:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
40	CTCF	chr21:45876080-45876230	HL-60	blood:	n/a	n/a
41	CTCF	chr21:45875840-45875990	AoAF	blood vessel:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
42	CTCF	chr21:45875839-45876079	GM19239	blood:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
43	CTCF	chr21:45875908-45876034	GM20000	blood:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
44	CTCF	chr21:45875900-45876050	NHDF-neo	bronchial:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
45	CTCF	chr21:45875820-45875970	A549	lung:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
46	CTCF	chr21:45875828-45876074	GM10266	blood:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
47	CTCF	chr21:45875860-45876010	WERI-Rb-1	eye:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
48	CTCF	chr21:45875847-45876011	Lung_OC	lung:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
49	CTCF	chr21:45875860-45876010	Hela-S3	cervix:	n/a	chr21:45875935-45875948 chr21:45875936-45875946
50	CTCF	chr21:45875850-45876024	HUVEC	blood vessel:	n/a	chr21:45875935-45875948 chr21:45875936-45875946

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45874614-45874664	AG09319	gingival:	n/a
2	chr21:45874614-45874664	AG09319	gingival:	n/a
3	chr21:45875123-45875173	HAEpiC	amniotic membrane:	n/a
4	chr21:45876245-45876295	ovcar-3	ovarian:	n/a
5	chr21:45874886-45874936	HEEpiC	esophagus:	n/a
6	chr21:45876245-45876295	ProgFib	skin:	n/a
7	chr21:45874614-45874664	ovcar-3	ovarian:	n/a
8	chr21:45874886-45874936	GM12891	blood:	n/a
9	chr21:45874879-45874929	RPTEC	kidney:	n/a
10	chr21:45876245-45876295	U87	brain:	n/a
11	chr21:45876770-45876820	Hepatocyte	liver:	n/a
12	chr21:45874886-45874936	U87	brain:	n/a
13	chr21:45875534-45875584	NB4	blood:	n/a
14	chr21:45874886-45874936	PANC-1	pancreas:	n/a
15	chr21:45875534-45875584	RPTEC	kidney:	n/a
16	chr21:45876245-45876295	AG09309	skin:	n/a
17	chr21:45875123-45875173	HRPEpiC	eye:	n/a
18	chr21:45874879-45874929	HIPEpiC	eye:	n/a
19	chr21:45875123-45875173	HNPCEpiC	eye:	n/a
20	chr21:45874886-45874936	IMR90	lung:	fetal
21	chr21:45874614-45874664	RPTEC	kidney:	n/a
22	chr21:45875534-45875584	BJ	skin:	n/a
23	chr21:45875534-45875584	SK-N-MC	brain:	n/a
24	chr21:45875123-45875173	Jurkat	blood:	n/a
25	chr21:45874879-45874929	MCF10A-Er-Src	breast:	n/a
26	chr21:45876245-45876295	ECC-1	luminal epithelium:	n/a
27	chr21:45874879-45874929	PFSK-1	brain:	n/a
28	chr21:45875123-45875173	AG09319	gingival:	n/a
29	chr21:45876245-45876295	HNPCEpiC	eye:	n/a
30	chr21:45874879-45874929	H1-hESC	embryonic stem cell:	embryo
31	chr21:45874614-45874664	HRE	kidney:	n/a
32	chr21:45875123-45875173	ECC-1	luminal epithelium:	n/a
33	chr21:45874614-45874664	HRCEpiC	kidney:	n/a
34	chr21:45874614-45874664	Jurkat	blood:	n/a
35	chr21:45876245-45876295	HCT-116	colon:	n/a
36	chr21:45875534-45875584	NHDF-neo	bronchial:	n/a
37	chr21:45875534-45875584	SAEC	small airway:	n/a
38	chr21:45874886-45874936	LNCaP	prostate:	n/a
39	chr21:45874886-45874936	AG04449	skin:	fetal
40	chr21:45874879-45874929	HNPCEpiC	eye:	n/a
41	chr21:45874886-45874936	H1-hESC	embryonic stem cell:	embryo
42	chr21:45874879-45874929	GM12892	blood:	n/a
43	chr21:45875123-45875173	HCM	heart:	n/a
44	chr21:45874886-45874936	NT2-D1	testis:	n/a
45	chr21:45874886-45874936	HCPEpiC	choroid plexus:	n/a
46	chr21:45874886-45874936	GM12892	blood:	n/a
47	chr21:45875534-45875584	GM12891	blood:	n/a
48	chr21:45874614-45874664	NH-A	brain:	n/a
49	chr21:45874886-45874936	MCF-7	breast:	n/a
50	chr21:45874886-45874936	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45783905..45784653-chr21:45875483..45876048,2	MCF-7	breast:
2	chr21:45756335..45760049-chr21:45874026..45878349,7	MCF-7	breast:
3	chr21:45875495..45879436-chr21:45881615..45885234,3	K562	blood:
4	chr21:45874301..45877175-chr21:45878479..45881429,3	MCF-7	breast:
5	chr21:45876142..45878920-chr21:45886862..45888726,2	MCF-7	breast:
6	chr21:45875830..45876432-chr21:45929281..45929900,2	MCF-7	breast:
7	chr21:45876830..45878456-chr21:45878976..45880619,2	K562	blood:
8	chr21:45875711..45878548-chr21:45899746..45901735,2	MCF-7	breast:
9	chr21:45719757..45722045-chr21:45874863..45877372,2	MCF-7	breast:
10	chr21:45797330..45797907-chr21:45875395..45876030,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPEAR-1	chr21:45874860-45874935	NONHSAT082522

Variant related genes	Relation type
LRRC3	TF binding region
LRRC3DN	TF binding region
LRRC3-AS1	TF binding region
LRRC3	CpG island
LRRC3DN	CpG island
LRRC3-AS1	CpG island
ENSG00000269430	chromatin interactions
ENSG00000141959	chromatin interactions
ENSG00000232969	chromatin interactions
ENSG00000160226	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529489323	chr21:45874070-45874071	Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs147501052	chr21:45874177-45874178	Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs77354424	chr21:45874178-45874179	Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs540140969	chr21:45874185-45874186	Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141975257	chr21:45874193-45874194	Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs34309096	chr21:45874202-45874203	Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs2186932	chr21:45874244-45874245	Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs537433663	chr21:45874297-45874298	Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs534297313	chr21:45874303-45874304	Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs80101420	chr21:45874316-45874317	Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs34313040	chr21:45874368-45874369	Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs74275729	chr21:45874437-45874438	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs373179475	chr21:45874474-45874475	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs139028378	chr21:45874498-45874499	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs572123499	chr21:45874502-45874503	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs546108316	chr21:45874504-45874505	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs551676672	chr21:45874519-45874520	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs564211880	chr21:45874569-45874570	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs575670617	chr21:45874620-45874621	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs149890916	chr21:45874637-45874638	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs561297024	chr21:45874698-45874699	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs371039986	chr21:45874720-45874721	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs370173779	chr21:45874805-45874806	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs528962625	chr21:45874820-45874821	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs375691257	chr21:45874825-45874826	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs547141587	chr21:45874894-45874895	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
27	rs112263286	chr21:45874918-45874919	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
28	rs367693995	chr21:45874936-45874937	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs370529935	chr21:45874999-45875000	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs145962979	chr21:45875005-45875006	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs9978193	chr21:45875045-45875046	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533340846	chr21:45875093-45875094	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs116645742	chr21:45875095-45875096	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs371664800	chr21:45875169-45875170	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs537695037	chr21:45875194-45875195	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs11701359	chr21:45875195-45875196	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs567630942	chr21:45875253-45875254	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs117139334	chr21:45875268-45875269	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs185293803	chr21:45875303-45875304	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs553172852	chr21:45875354-45875355	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs572240748	chr21:45875359-45875360	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs111322158	chr21:45875366-45875367	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs113733312	chr21:45875384-45875385	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs13047477	chr21:45875412-45875413	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs202096965	chr21:45875439-45875440	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs376277198	chr21:45875472-45875473	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs558077772	chr21:45875498-45875499	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs575933140	chr21:45875530-45875531	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs190269439	chr21:45875602-45875603	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs181920950	chr21:45875704-45875705	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	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
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
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45815800-45874800	Weak transcription	Right Atrium	heart
2	chr21:45869600-45874800	Weak transcription	Colon Smooth Muscle	Colon
3	chr21:45870200-45874600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:45873800-45876800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:45874000-45874400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
6	chr21:45874200-45874400	Bivalent/Poised TSS	Hela-S3	cervix
7	chr21:45874200-45874600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr21:45874400-45874600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:45874400-45874600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr21:45874400-45874600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr21:45874400-45874600	Bivalent Enhancer	HepG2	liver
12	chr21:45874400-45874800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr21:45874400-45874800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr21:45874400-45875000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr21:45874400-45875000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr21:45874400-45875000	ZNF genes & repeats	Spleen	Spleen
17	chr21:45874400-45875600	Active TSS	Primary B cells from cord blood	blood
18	chr21:45874400-45875800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr21:45874400-45875800	Active TSS	Primary T cells from cord blood	blood
20	chr21:45874400-45876600	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr21:45874600-45874800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:45874600-45874800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:45874600-45874800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr21:45874600-45874800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr21:45874600-45874800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr21:45874600-45874800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:45874600-45874800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr21:45874600-45874800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr21:45874600-45874800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr21:45874600-45874800	ZNF genes & repeats	Fetal Brain Female	brain
31	chr21:45874600-45874800	Enhancers	Ovary	ovary
32	chr21:45874600-45874800	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr21:45874600-45874800	Bivalent/Poised TSS	Thymus	Thymus
34	chr21:45874600-45874800	Bivalent Enhancer	Dnd41	blood
35	chr21:45874600-45874800	Flanking Bivalent TSS/Enh	HepG2	liver
36	chr21:45874600-45875000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr21:45874600-45875000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr21:45874600-45875000	Enhancers	Fetal Heart	heart
39	chr21:45874600-45875200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr21:45874600-45875200	Enhancers	Liver	Liver
41	chr21:45874600-45875200	Enhancers	Fetal Brain Male	brain
42	chr21:45874600-45875400	Enhancers	Primary B cells from peripheral blood	blood
43	chr21:45874600-45875400	Bivalent Enhancer	Fetal Thymus	thymus
44	chr21:45874600-45875800	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr21:45874600-45875800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr21:45874600-45875800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr21:45874600-45875800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr21:45874600-45875800	Active TSS	Left Ventricle	heart
49	chr21:45874600-45876000	Active TSS	H1 Cell Line	embryonic stem cell
50	chr21:45874600-45876000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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