Variant report

Variant	nsv914093
Chromosome Location	chr21:47411988-47427839
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:128)
CpG islands
(count:854)
Chromatin interactive
region (count:12)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:128 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr21:47421798-47422063	K562	blood:	n/a	n/a
2	CHD1	chr21:47419515-47420005	IMR90	lung:	n/a	n/a
3	CTCF	chr21:47413780-47413930	AG10803	skin:	n/a	n/a
4	CTCF	chr21:47424240-47424390	K562	blood:	n/a	n/a
5	CTCF	chr21:47413720-47413870	HMF	breast:	n/a	n/a
6	CTCF	chr21:47413820-47413970	AG09309	skin:	n/a	n/a
7	E2F6	chr21:47420358-47420579	K562	blood:	n/a	n/a
8	E2F6	chr21:47420613-47420852	K562	blood:	n/a	n/a
9	EGR1	chr21:47421052-47421283	K562	blood:	n/a	n/a
10	EGR1	chr21:47421046-47421308	K562	blood:	n/a	n/a
11	ELF1	chr21:47422688-47423052	K562	blood:	n/a	chr21:47422922-47422931 chr21:47422921-47422932
12	ELK1	chr21:47416359-47416364	Hela-S3	cervix:	n/a	n/a
13	ESR1	chr21:47422099-47422655	ECC-1	luminal epithelium:	n/a	n/a
14	ESR1	chr21:47422117-47422631	ECC-1	luminal epithelium:	n/a	n/a
15	ESR1	chr21:47422124-47422536	ECC-1	luminal epithelium:	n/a	n/a
16	ESR1	chr21:47422142-47422628	ECC-1	luminal epithelium:	n/a	n/a
17	FOS	chr21:47415587-47415767	MCF10A-Er-Src	breast:	n/a	chr21:47415707-47415714 chr21:47415706-47415717 chr21:47415708-47415719 chr21:47415707-47415716
18	FOS	chr21:47415684-47415766	MCF10A-Er-Src	breast:	n/a	chr21:47415707-47415714 chr21:47415706-47415717 chr21:47415708-47415719 chr21:47415707-47415716
19	FOS	chr21:47415635-47415835	MCF10A-Er-Src	breast:	n/a	chr21:47415707-47415714 chr21:47415706-47415717 chr21:47415708-47415719 chr21:47415707-47415716
20	FOS	chr21:47415690-47415791	MCF10A-Er-Src	breast:	n/a	chr21:47415707-47415714 chr21:47415706-47415717 chr21:47415708-47415719 chr21:47415707-47415716
21	FOSL2	chr21:47415476-47415885	HepG2	liver:	n/a	chr21:47415707-47415714 chr21:47415706-47415717 chr21:47415708-47415719 chr21:47415707-47415716
22	GABPA	chr21:47422748-47423085	K562	blood:	n/a	n/a
23	HMGN3	chr21:47414247-47414393	K562	blood:	n/a	n/a
24	HMGN3	chr21:47419064-47419259	K562	blood:	n/a	n/a
25	MAX	chr21:47420352-47420533	K562	blood:	n/a	n/a
26	MAX	chr21:47420457-47421045	ECC-1	luminal epithelium:	n/a	n/a
27	MAX	chr21:47420573-47421022	ECC-1	luminal epithelium:	n/a	n/a
28	MAX	chr21:47413797-47413962	K562	blood:	n/a	chr21:47413911-47413920 chr21:47413909-47413919 chr21:47413909-47413918 chr21:47413910-47413917 chr21:47413905-47413920
29	MAX	chr21:47420249-47420969	K562	blood:	n/a	n/a
30	MAX	chr21:47421009-47421272	K562	blood:	n/a	n/a
31	MAX	chr21:47420635-47420873	K562	blood:	n/a	n/a
32	MAX	chr21:47415218-47415342	HepG2	liver:	n/a	n/a
33	MAX	chr21:47413748-47414132	K562	blood:	n/a	chr21:47413911-47413920 chr21:47413909-47413919 chr21:47413909-47413918 chr21:47413772-47413781 chr21:47413910-47413917 chr21:47413905-47413920
34	MAZ	chr21:47420939-47421271	K562	blood:	n/a	n/a
35	MAZ	chr21:47420757-47421660	IMR90	lung:	n/a	n/a
36	MYC	chr21:47423282-47423367	MCF-7	breast:	n/a	n/a
37	MYC	chr21:47420324-47420920	K562	blood:	n/a	n/a
38	MYC	chr21:47414725-47414853	MCF-7	breast:	n/a	n/a
39	MYC	chr21:47420781-47420848	K562	blood:	n/a	n/a
40	POLR2A	chr21:47419658-47420506	U87	brain:	n/a	n/a
41	POLR2A	chr21:47425334-47425338	ProgFib	skin:	n/a	n/a
42	POLR2A	chr21:47423570-47423602	ProgFib	skin:	n/a	n/a
43	POLR2A	chr21:47416940-47417296	U87	brain:	n/a	n/a
44	POLR2A	chr21:47416934-47417319	U87	brain:	n/a	n/a
45	POLR2A	chr21:47421008-47421613	U87	brain:	n/a	n/a
46	POLR2A	chr21:47421065-47421087	ProgFib	skin:	n/a	n/a
47	POLR2A	chr21:47412056-47412767	U87	brain:	n/a	n/a
48	POLR2A	chr21:47425105-47425183	Gliobla	brain:	n/a	n/a
49	POLR2A	chr21:47418896-47419275	U87	brain:	n/a	n/a
50	POLR2A	chr21:47421062-47421563	U87	brain:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47422158-47422208	T-47D	breast:	n/a
2	chr21:47419697-47419747	GM19239	blood:	n/a
3	chr21:47420301-47420351	AG09309	skin:	n/a
4	chr21:47423882-47423932	BE2_C	brain:	n/a
5	chr21:47426939-47426989	AG04449	skin:	fetal
6	chr21:47419697-47419747	Hela-S3	cervix:	n/a
7	chr21:47419697-47419747	AoSMC	blood vessel:	n/a
8	chr21:47421270-47421320	ovcar-3	ovarian:	n/a
9	chr21:47420301-47420351	HepG2	liver:	n/a
10	chr21:47421270-47421320	GM19239	blood:	n/a
11	chr21:47422158-47422208	NT2-D1	testis:	n/a
12	chr21:47426939-47426989	AG10803	skin:	n/a
13	chr21:47421177-47421227	HRPEpiC	eye:	n/a
14	chr21:47426939-47426989	PFSK-1	brain:	n/a
15	chr21:47422537-47422587	NT2-D1	testis:	n/a
16	chr21:47421177-47421227	HAEpiC	amniotic membrane:	n/a
17	chr21:47418282-47418332	GM06990	blood:	n/a
18	chr21:47419697-47419747	PFSK-1	brain:	n/a
19	chr21:47419697-47419747	RPTEC	kidney:	n/a
20	chr21:47421319-47421369	HUVEC	blood vessel:	n/a
21	chr21:47418282-47418332	U87	brain:	n/a
22	chr21:47422158-47422208	GM12891	blood:	n/a
23	chr21:47419697-47419747	SK-N-SH	brain:	n/a
24	chr21:47418282-47418332	HRE	kidney:	n/a
25	chr21:47419697-47419747	MCF-7	breast:	n/a
26	chr21:47426939-47426989	ECC-1	luminal epithelium:	n/a
27	chr21:47421270-47421320	Caco-2	colon:	n/a
28	chr21:47418282-47418332	MCF10A-Er-Src	breast:	n/a
29	chr21:47421319-47421369	NH-A	brain:	n/a
30	chr21:47419697-47419747	Caco-2	colon:	n/a
31	chr21:47424543-47424593	T-47D	breast:	n/a
32	chr21:47426939-47426989	SK-N-SH	brain:	n/a
33	chr21:47423639-47423689	NT2-D1	testis:	n/a
34	chr21:47419697-47419747	HCPEpiC	choroid plexus:	n/a
35	chr21:47423639-47423689	HRE	kidney:	n/a
36	chr21:47424543-47424593	Hepatocyte	liver:	n/a
37	chr21:47422158-47422208	Hela-S3	cervix:	n/a
38	chr21:47423639-47423689	MCF10A-Er-Src	breast:	n/a
39	chr21:47423074-47423124	AG09319	gingival:	n/a
40	chr21:47422158-47422208	NHDF-neo	bronchial:	n/a
41	chr21:47423882-47423932	Caco-2	colon:	n/a
42	chr21:47424543-47424593	HepG2	liver:	n/a
43	chr21:47423074-47423124	HPAEpiC	pulmonary alveolar:	n/a
44	chr21:47423882-47423932	SK-N-SH	brain:	n/a
45	chr21:47424543-47424593	CMK	blood:	n/a
46	chr21:47421319-47421369	HCF	heart:	n/a
47	chr21:47420301-47420351	A549	lung:	n/a
48	chr21:47421270-47421320	HCT-116	colon:	n/a
49	chr21:47421270-47421320	HMEC	breast:	n/a
50	chr21:47421319-47421369	AG09319	gingival:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47410997..47412945-chr21:47415697..47417959,2	MCF-7	breast:
2	chr21:47409518..47412170-chr21:47436887..47438560,2	MCF-7	breast:
3	chr21:47427326..47428898-chr21:47432670..47434533,2	K562	blood:
4	chr21:46961078..46962785-chr21:47417789..47420284,2	K562	blood:
5	chr21:47410997..47412945-chr21:47415697..47417959,2	MCF-7	breast:
6	chr21:47427092..47429709-chr21:47442410..47444749,2	K562	blood:
7	chr21:47407254..47409991-chr21:47416573..47418228,2	K562	blood:
8	chr21:47422093..47424938-chr21:47427545..47430029,2	K562	blood:
9	chr21:47407254..47409991-chr21:47416573..47418228,3	K562	blood:
10	chr21:47416853..47418859-chr21:47421399..47424312,2	K562	blood:
11	chr21:47411553..47415297-chr21:47415530..47420389,6	K562	blood:
12	chr21:47415907..47418450-chr21:47418722..47421230,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCBP3-3	chr21:47420673-47420842	NONHSAT083008
2	lnc-PCBP3-3	chr21:47419314-47419606	NONHSAT083008
3	lnc-PCBP3-3	chr21:47420245-47420281	NONHSAT083008

No data

Variant related genes	Relation type
COL6A1	TF binding region
COL6A1	CpG island
ENSG00000173638	chromatin interactions
ENSG00000142156	chromatin interactions

Extended variants
information (count: 1211 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:1211 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111233149	chr21:47411988-47411989	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs62215499	chr21:47411989-47411990	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs374319468	chr21:47411998-47411999	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536458158	chr21:47412003-47412004	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs7275706	chr21:47412006-47412007	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs202073954	chr21:47412025-47412026	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535009608	chr21:47412032-47412033	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373678913	chr21:47412057-47412058	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200974842	chr21:47412061-47412062	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531640667	chr21:47412086-47412087	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200389937	chr21:47412093-47412094	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557250335	chr21:47412122-47412123	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147622862	chr21:47412125-47412126	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575394639	chr21:47412126-47412127	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs140478280	chr21:47412128-47412129	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs376327142	chr21:47412136-47412137	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs370362743	chr21:47412143-47412144	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372483312	chr21:47412145-47412146	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112914594	chr21:47412160-47412161	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374765590	chr21:47412183-47412184	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183797616	chr21:47412198-47412199	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113469306	chr21:47412211-47412212	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572884418	chr21:47412212-47412213	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540201449	chr21:47412227-47412228	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs377503199	chr21:47412240-47412241	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs117962806	chr21:47412249-47412250	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370940027	chr21:47412250-47412251	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374321065	chr21:47412252-47412253	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs143961336	chr21:47412253-47412254	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529912759	chr21:47412255-47412256	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs548126574	chr21:47412256-47412257	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs148630223	chr21:47412294-47412295	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113912149	chr21:47412314-47412315	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371785147	chr21:47412323-47412324	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370523691	chr21:47412324-47412325	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376063057	chr21:47412336-47412337	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534834772	chr21:47412337-47412338	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs369119079	chr21:47412344-47412345	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372576723	chr21:47412352-47412353	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs202136479	chr21:47412360-47412361	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370717207	chr21:47412365-47412366	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs142101984	chr21:47412388-47412389	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs150780004	chr21:47412410-47412411	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs568574505	chr21:47412426-47412427	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs538658523	chr21:47412449-47412450	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs113006971	chr21:47412450-47412451	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569248005	chr21:47412469-47412470	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536835544	chr21:47412482-47412483	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs144174477	chr21:47412500-47412501	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs760438	chr21:47412511-47412512	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	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 adenocarcinoma	17086460	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

Chromatin state (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47403200-47414600	Weak transcription	Brain Substantia Nigra	brain
2	chr21:47403200-47415200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:47403200-47424600	Weak transcription	Small Intestine	intestine
4	chr21:47403200-47425000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:47403600-47414800	Strong transcription	Fetal Intestine Small	intestine
6	chr21:47404000-47424200	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr21:47404000-47424600	Strong transcription	Aorta	Aorta
8	chr21:47404200-47414400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:47404200-47425200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:47404200-47425200	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr21:47404400-47414600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr21:47404400-47419200	Strong transcription	Left Ventricle	heart
13	chr21:47405000-47414600	Weak transcription	Fetal Kidney	kidney
14	chr21:47405000-47417400	Weak transcription	Stomach Mucosa	stomach
15	chr21:47405000-47419400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr21:47405000-47423800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr21:47405000-47425400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr21:47405200-47425400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr21:47405200-47425400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
20	chr21:47405200-47425800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr21:47405400-47423800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr21:47405400-47424800	Strong transcription	Fetal Brain Female	brain
23	chr21:47405400-47425200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:47405600-47413200	Strong transcription	Osteobl	bone
25	chr21:47405600-47419800	Strong transcription	Fetal Stomach	stomach
26	chr21:47405600-47423000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr21:47405800-47414400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:47406200-47412400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr21:47406400-47421400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr21:47406600-47425400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr21:47407000-47414400	Strong transcription	Fetal Intestine Large	intestine
32	chr21:47407400-47413800	Weak transcription	HSMM	muscle
33	chr21:47407600-47414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr21:47407600-47416400	Weak transcription	Esophagus	oesophagus
35	chr21:47407600-47425000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr21:47407800-47412000	Strong transcription	NHLF	lung
37	chr21:47408200-47412800	Strong transcription	Right Ventricle	heart
38	chr21:47408400-47412000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr21:47408400-47416400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr21:47408400-47416800	Genic enhancers	Stomach Smooth Muscle	stomach
41	chr21:47408400-47425800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr21:47408600-47415400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
43	chr21:47408600-47419800	Strong transcription	Brain Germinal Matrix	brain
44	chr21:47408800-47414400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:47408800-47417800	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr21:47409000-47414000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr21:47409000-47425200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr21:47409200-47412600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr21:47409200-47415400	Genic enhancers	NHDF-Ad	bronchial
50	chr21:47409200-47425000	Strong transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links