Variant report

Variant	esv3414485
Chromosome Location	chr21:45160374-45162322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr21:45160710-45160988	A549	lung:	n/a	chr21:45160849-45160862
2	BACH1	chr21:45161393-45161618	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr21:45160396-45161112	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr21:45160274-45161086	A549	lung:	n/a	chr21:45160409-45160418
5	CREB1	chr21:45160649-45161059	A549	lung:	n/a	n/a
6	CREB1	chr21:45160660-45161034	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr21:45161360-45161510	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr21:45161420-45161570	SK-N-SH_RA	brain:	n/a	n/a
9	EGR1	chr21:45161354-45161563	K562	blood:	n/a	n/a
10	FOXP2	chr21:45160693-45161032	PFSK-1	brain:	n/a	n/a
11	GABPA	chr21:45160433-45161012	H1-hESC	embryonic stem cell:	n/a	n/a
12	HDAC2	chr21:45160497-45161092	MCF-7	breast:	n/a	n/a
13	HDAC2	chr21:45160746-45161027	H1-hESC	embryonic stem cell:	n/a	n/a
14	JUND	chr21:45161305-45161678	A549	lung:	n/a	n/a
15	JUND	chr21:45159628-45161057	A549	lung:	n/a	chr21:45159685-45159693
16	MAX	chr21:45160547-45161027	A549	lung:	n/a	n/a
17	MAX	chr21:45159587-45161125	A549	lung:	n/a	chr21:45160229-45160238
18	MAX	chr21:45160424-45161055	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr21:45160778-45160868	Hela-S3	cervix:	n/a	n/a
20	NFIC	chr21:45160497-45161076	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr21:45161672-45161813	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr21:45160296-45160625	GM12878	blood:	n/a	n/a
23	POLR2A	chr21:45160543-45161024	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr21:45160320-45160609	GM12892	blood:	n/a	n/a
25	POLR2A	chr21:45161610-45161981	A549	lung:	n/a	n/a
26	POLR2A	chr21:45161825-45161949	A549	lung:	n/a	n/a
27	POLR2A	chr21:45160810-45160977	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr21:45160424-45160615	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr21:45160737-45161048	GM12878	blood:	n/a	n/a
30	POLR2A	chr21:45160926-45160932	ProgFib	skin:	n/a	n/a
31	POLR2A	chr21:45159792-45160451	HepG2	liver:	n/a	n/a
32	POLR2A	chr21:45160278-45160635	A549	lung:	n/a	n/a
33	POLR2A	chr21:45161306-45161479	A549	lung:	n/a	n/a
34	POLR2A	chr21:45159794-45160559	GM12892	blood:	n/a	n/a
35	POLR2A	chr21:45161717-45162013	K562	blood:	n/a	n/a
36	POLR2A	chr21:45160305-45160650	K562	blood:	n/a	n/a
37	POLR2A	chr21:45160739-45160946	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr21:45159026-45160653	GM12878	blood:	n/a	n/a
39	POLR2A	chr21:45160445-45160507	K562	blood:	n/a	n/a
40	POLR2A	chr21:45159327-45161028	GM12892	blood:	n/a	n/a
41	POLR2A	chr21:45160386-45160624	A549	lung:	n/a	n/a
42	POLR2A	chr21:45159481-45160498	HL-60	blood:	n/a	n/a
43	POLR2A	chr21:45159920-45160935	HepG2	liver:	n/a	n/a
44	POLR2A	chr21:45160377-45160638	A549	lung:	n/a	n/a
45	POLR2A	chr21:45160707-45161011	GM12878	blood:	n/a	n/a
46	POLR2A	chr21:45160436-45160449	MCF-7	breast:	n/a	n/a
47	POLR2A	chr21:45160675-45160997	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr21:45160754-45161030	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr21:45160681-45161110	A549	lung:	n/a	n/a
50	POLR2A	chr21:45160476-45160990	MCF-7	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45161359-45161409	HRCEpiC	kidney:	n/a
2	chr21:45161415-45161465	SK-N-SH_RA	brain:	n/a
3	chr21:45161359-45161409	AG10803	skin:	n/a
4	chr21:45161415-45161465	NH-A	brain:	n/a
5	chr21:45161415-45161465	LNCaP	prostate:	n/a
6	chr21:45161415-45161465	A549	lung:	n/a
7	chr21:45161359-45161409	HEK293	kidney:	embryo
8	chr21:45161415-45161465	HEEpiC	esophagus:	n/a
9	chr21:45161359-45161409	NB4	blood:	n/a
10	chr21:45161359-45161409	PrEC	prostate:	n/a
11	chr21:45161359-45161409	NHDF-neo	bronchial:	n/a
12	chr21:45161415-45161465	GM06990	blood:	n/a
13	chr21:45161359-45161409	MCF10A-Er-Src	breast:	n/a
14	chr21:45161415-45161465	ovcar-3	ovarian:	n/a
15	chr21:45161359-45161409	GM12878	blood:	n/a
16	chr21:45161415-45161465	SK-N-MC	brain:	n/a
17	chr21:45161359-45161409	AG09309	skin:	n/a
18	chr21:45161359-45161409	U87	brain:	n/a
19	chr21:45161359-45161409	SK-N-MC	brain:	n/a
20	chr21:45161415-45161465	HRPEpiC	eye:	n/a
21	chr21:45161359-45161409	Caco-2	colon:	n/a
22	chr21:45161415-45161465	RPTEC	kidney:	n/a
23	chr21:45161415-45161465	BE2_C	brain:	n/a
24	chr21:45161359-45161409	T-47D	breast:	n/a
25	chr21:45161415-45161465	HL-60	blood:	n/a
26	chr21:45161415-45161465	Caco-2	colon:	n/a
27	chr21:45161359-45161409	HIPEpiC	eye:	n/a
28	chr21:45161415-45161465	AG10803	skin:	n/a
29	chr21:45161415-45161465	HEK293	kidney:	embryo
30	chr21:45161415-45161465	HPAEpiC	pulmonary alveolar:	n/a
31	chr21:45161359-45161409	HepG2	liver:	n/a
32	chr21:45161359-45161409	ProgFib	skin:	n/a
33	chr21:45161415-45161465	IMR90	lung:	fetal
34	chr21:45161359-45161409	AG04450	lung:	fetal
35	chr21:45161415-45161465	AoSMC	blood vessel:	n/a
36	chr21:45161415-45161465	HNPCEpiC	eye:	n/a
37	chr21:45161415-45161465	PFSK-1	brain:	n/a
38	chr21:45161415-45161465	HMEC	breast:	n/a
39	chr21:45161415-45161465	HIPEpiC	eye:	n/a
40	chr21:45161359-45161409	SAEC	small airway:	n/a
41	chr21:45161415-45161465	AG09319	gingival:	n/a
42	chr21:45161359-45161409	GM12892	blood:	n/a
43	chr21:45161415-45161465	NT2-D1	testis:	n/a
44	chr21:45161359-45161409	BE2_C	brain:	n/a
45	chr21:45161359-45161409	RPTEC	kidney:	n/a
46	chr21:45161415-45161465	ProgFib	skin:	n/a
47	chr21:45161415-45161465	AG04449	skin:	fetal
48	chr21:45161359-45161409	HAEpiC	amniotic membrane:	n/a
49	chr21:45161359-45161409	HCPEpiC	choroid plexus:	n/a
50	chr21:45161359-45161409	HEEpiC	esophagus:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45159502..45161246-chr21:45194764..45196763,2	MCF-7	breast:
2	chr21:45152139..45163298-chr21:45164540..45174522,16	K562	blood:
3	chr21:45156014..45158647-chr21:45159074..45160757,2	K562	blood:
4	chr21:45158615..45161441-chr21:45207897..45210708,2	K562	blood:
5	chr21:45159250..45162021-chr21:45208113..45211544,3	MCF-7	breast:

No data

Variant related genes	Relation type
PDXK	TF binding region
PDXK	CpG island
ENSG00000160213	chromatin interactions
ENSG00000160209	chromatin interactions
ENSG00000160214	chromatin interactions

Extended variants
information (count: 136 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572180724	chr21:45160375-45160376	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs137858781	chr21:45160385-45160386	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs527719025	chr21:45160398-45160399	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs192193544	chr21:45160401-45160402	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs142378453	chr21:45160439-45160440	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs550618108	chr21:45160445-45160446	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs543471065	chr21:45160447-45160448	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs561790234	chr21:45160486-45160487	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs145959832	chr21:45160487-45160488	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs547713938	chr21:45160537-45160538	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs139507797	chr21:45160540-45160541	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs376724155	chr21:45160554-45160555	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs374274545	chr21:45160568-45160569	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs185500457	chr21:45160570-45160571	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs551952778	chr21:45160575-45160576	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs552769085	chr21:45160604-45160605	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs8131188	chr21:45160625-45160626	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537982925	chr21:45160642-45160643	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs552306067	chr21:45160649-45160650	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs149279090	chr21:45160660-45160661	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs190577848	chr21:45160689-45160690	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs144546716	chr21:45160700-45160701	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs372789045	chr21:45160709-45160710	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs368810296	chr21:45160721-45160722	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs148465906	chr21:45160730-45160731	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs145274092	chr21:45160738-45160739	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs147642064	chr21:45160743-45160744	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs545708072	chr21:45160785-45160786	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs544330066	chr21:45160788-45160789	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs79444563	chr21:45160799-45160800	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs570387699	chr21:45160840-45160841	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs576150916	chr21:45160843-45160844	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs180858600	chr21:45160847-45160848	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs73375207	chr21:45160862-45160863	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs573733006	chr21:45160872-45160873	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs117208074	chr21:45160899-45160900	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs140684849	chr21:45160913-45160914	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs112556345	chr21:45160920-45160921	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs533684827	chr21:45160934-45160935	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs551775100	chr21:45160940-45160941	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs563953030	chr21:45160974-45160975	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs531103832	chr21:45160981-45160982	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs549935185	chr21:45160992-45160993	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs568176154	chr21:45160994-45160995	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs375600476	chr21:45160998-45160999	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs118098384	chr21:45160999-45161000	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs151119990	chr21:45161032-45161033	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs547420835	chr21:45161033-45161034	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs184456882	chr21:45161043-45161044	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs372591726	chr21:45161046-45161047	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 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
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
Neuroblastoma	20406844	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
Breast cancer	21364760	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45146000-45163600	Weak transcription	Dnd41	blood
2	chr21:45149000-45194400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr21:45149400-45175400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr21:45149600-45163600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:45149600-45163600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr21:45149600-45163800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr21:45149600-45164200	Weak transcription	Primary B cells from cord blood	blood
8	chr21:45149800-45164200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr21:45149800-45164400	Weak transcription	Fetal Kidney	kidney
10	chr21:45149800-45175200	Weak transcription	HUVEC	blood vessel
11	chr21:45149800-45188200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr21:45150000-45161600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:45150000-45163600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr21:45150000-45173200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr21:45152200-45160600	Genic enhancers	Fetal Intestine Large	intestine
16	chr21:45152200-45160600	Genic enhancers	Fetal Intestine Small	intestine
17	chr21:45152200-45183400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr21:45152400-45163800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr21:45152400-45173200	Weak transcription	Psoas Muscle	Psoas
20	chr21:45153600-45163800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr21:45154000-45167000	Weak transcription	Small Intestine	intestine
22	chr21:45154200-45163400	Weak transcription	Colon Smooth Muscle	Colon
23	chr21:45154200-45163800	Weak transcription	NHDF-Ad	bronchial
24	chr21:45154400-45160400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr21:45154400-45160600	Strong transcription	Fetal Stomach	stomach
26	chr21:45154400-45184200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr21:45154600-45164200	Weak transcription	Brain Substantia Nigra	brain
28	chr21:45154800-45164200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr21:45154800-45174600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr21:45155000-45160600	Strong transcription	NHEK	skin
31	chr21:45155000-45161400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr21:45155000-45161400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr21:45155000-45163800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr21:45155000-45164400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr21:45155200-45160400	Weak transcription	Left Ventricle	heart
36	chr21:45155200-45161600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr21:45155200-45163600	Weak transcription	Fetal Lung	lung
38	chr21:45155200-45169200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr21:45155400-45161600	Weak transcription	Osteobl	bone
40	chr21:45155400-45163400	Weak transcription	HSMMtube	muscle
41	chr21:45155400-45163600	Weak transcription	Stomach Mucosa	stomach
42	chr21:45155400-45164200	Weak transcription	HSMM	muscle
43	chr21:45155400-45164200	Weak transcription	NH-A	brain
44	chr21:45155800-45161600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr21:45156000-45162000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr21:45156000-45163600	Weak transcription	Fetal Thymus	thymus
47	chr21:45156200-45161600	Weak transcription	GM12878-XiMat	blood
48	chr21:45156200-45162800	Strong transcription	Fetal Muscle Leg	muscle
49	chr21:45156200-45167400	Weak transcription	Brain Germinal Matrix	brain
50	chr21:45156400-45160800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links