Variant report

Variant	rs8129301
Chromosome Location	chr21:46727348-46727349
allele	A/G
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	BHLHE40	chr21:46726830-46727596	K562	blood:	n/a	n/a
2	MXI1	chr21:46726974-46727470	HepG2	liver:	n/a	n/a
3	MAX	chr21:46726662-46727544	ECC-1	luminal epithelium:	n/a	chr21:46727065-46727074
4	BHLHE40	chr21:46726878-46729243	HepG2	liver:	n/a	n/a
5	MYC	chr21:46726858-46727440	NB4	blood:	n/a	chr21:46727065-46727074
6	RAD21	chr21:46726735-46727388	IMR90	lung:	n/a	n/a
7	CEBPB	chr21:46726871-46727360	ECC-1	luminal epithelium:	n/a	n/a
8	ESR1	chr21:46726851-46727589	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr21:46726791-46727500	HepG2	liver:	n/a	n/a
10	JUN	chr21:46725744-46727383	K562	blood:	n/a	n/a
11	EP300	chr21:46726801-46727555	ECC-1	luminal epithelium:	n/a	chr21:46727198-46727207
12	MAX	chr21:46726830-46727590	NB4	blood:	n/a	chr21:46727065-46727074
13	MYBL2	chr21:46726840-46728005	HepG2	liver:	n/a	n/a
14	NR3C1	chr21:46726886-46727375	ECC-1	luminal epithelium:	n/a	n/a
15	EP300	chr21:46726594-46727675	ECC-1	luminal epithelium:	n/a	chr21:46727198-46727207
16	MAX	chr21:46726834-46727568	HepG2	liver:	n/a	chr21:46727065-46727074
17	POLR2A	chr21:46725629-46729568	IMR90	lung:	n/a	n/a
18	ESR1	chr21:46726951-46727483	ECC-1	luminal epithelium:	n/a	n/a
19	CEBPB	chr21:46726867-46727362	IMR90	lung:	n/a	n/a
20	HEY1	chr21:46726891-46727369	HepG2	liver:	n/a	n/a
21	POLR2A	chr21:46726662-46727466	HepG2	liver:	n/a	n/a
22	TCF12	chr21:46726671-46727598	ECC-1	luminal epithelium:	n/a	n/a
23	YY1	chr21:46726796-46727435	HepG2	liver:	n/a	chr21:46726920-46726931
24	CEBPB	chr21:46726881-46727423	HepG2	liver:	n/a	n/a
25	NFIC	chr21:46726826-46727475	ECC-1	luminal epithelium:	n/a	n/a
26	RFX5	chr21:46726937-46727562	HepG2	liver:	n/a	n/a
27	MAX	chr21:46726773-46727718	HepG2	liver:	n/a	chr21:46727065-46727074
28	MAX	chr21:46726680-46727767	HepG2	liver:	n/a	chr21:46727065-46727074
29	MAZ	chr21:46725608-46727605	IMR90	lung:	n/a	chr21:46726429-46726440 chr21:46726428-46726443 chr21:46727065-46727074 chr21:46726640-46726650
30	MAX	chr21:46726817-46727643	ECC-1	luminal epithelium:	n/a	chr21:46727065-46727074
31	EP300	chr21:46726892-46727497	HepG2	liver:	n/a	chr21:46727198-46727207
32	POLR2A	chr21:46726724-46727465	ECC-1	luminal epithelium:	n/a	n/a
33	ESR1	chr21:46726863-46727525	ECC-1	luminal epithelium:	n/a	n/a
34	ESR1	chr21:46726809-46727571	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr21:46727300-46727763	K562	blood:	n/a	n/a
36	NR3C1	chr21:46726815-46727362	ECC-1	luminal epithelium:	n/a	n/a
37	HDAC2	chr21:46726826-46727662	HepG2	liver:	n/a	n/a
38	MYC	chr21:46726896-46727852	HepG2	liver:	n/a	chr21:46727065-46727074
39	TCF12	chr21:46726711-46727510	ECC-1	luminal epithelium:	n/a	n/a
40	CEBPB	chr21:46726873-46727424	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:46727309..46730446-chr21:46829894..46833293,4	K562	blood:
2	chr21:46727073..46730583-chr21:46829051..46833062,4	K562	blood:
3	chr21:46723493..46725372-chr21:46725861..46728537,3	K562	blood:
4	chr21:46726238..46728769-chr21:46731285..46733297,3	K562	blood:

Variant related genes	Relation type
LINC00315	TF binding region
ENSG00000184274	Chromatin interaction
ENSG00000224574	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13340008	0.92[ASN][1000 genomes]
rs2294171	0.83[YRI][hapmap];0.89[ASN][1000 genomes]
rs2294173	0.88[YRI][hapmap];0.89[ASN][1000 genomes]
rs2294174	0.88[YRI][hapmap];0.88[ASN][1000 genomes]
rs28483427	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4819054	0.89[ASN][1000 genomes]
rs9789865	0.92[ASN][1000 genomes]
rs9977389	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1063943	chr21:46571988-46819424	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv544482	chr21:46571988-46819424	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1064859	chr21:46571988-46830602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv544483	chr21:46571988-46830602	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv1061691	chr21:46572641-46831862	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv544484	chr21:46572641-46831862	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv587839	chr21:46580370-46837709	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	nsv587840	chr21:46580370-46839904	Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
12	nsv916959	chr21:46585681-46831845	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
13	nsv1063721	chr21:46610599-46907894	Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
14	nsv1059779	chr21:46611859-46891352	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
15	nsv544485	chr21:46611859-46891352	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
16	nsv1059805	chr21:46618210-46736943	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv913999	chr21:46636844-46765251	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
18	nsv914000	chr21:46647078-46765251	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
19	nsv914001	chr21:46647078-46944113	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
20	nsv914002	chr21:46655638-46945024	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
21	nsv1057807	chr21:46656346-47077374	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
22	nsv914004	chr21:46670874-46736694	Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
23	nsv914005	chr21:46670874-46756700	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
24	nsv914006	chr21:46670874-46788299	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
25	esv2762114	chr21:46680202-47067744	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
26	nsv914007	chr21:46684517-46780249	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
27	nsv914008	chr21:46684517-46792424	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
28	nsv914009	chr21:46684517-46908355	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
29	nsv1057661	chr21:46687476-46961041	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
30	nsv914010	chr21:46695039-46775018	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
31	nsv914011	chr21:46695039-46788299	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
32	nsv914012	chr21:46695039-47015661	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
33	nsv531547	chr21:46698078-46850908	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
34	nsv914013	chr21:46702506-46765251	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
35	nsv914014	chr21:46702506-46780249	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
36	nsv914015	chr21:46702506-46790203	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
37	nsv914016	chr21:46715545-46788299	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
38	nsv914017	chr21:46715545-46837709	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
39	nsv1060369	chr21:46719445-46882338	Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
40	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
41	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
42	nsv459303	chr21:46720010-46848589	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
43	nsv470909	chr21:46720010-46848589	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
44	nsv587843	chr21:46720010-46848589	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8129301	LINC00315	cis	Artery Tibial	GTEx

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46713800-46738800	Weak transcription	Gastric	stomach
2	chr21:46715600-46730000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:46715800-46730000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:46717600-46728200	Weak transcription	A549	lung
5	chr21:46719400-46728400	Enhancers	Fetal Muscle Trunk	muscle
6	chr21:46720600-46728000	Weak transcription	Stomach Mucosa	stomach
7	chr21:46721000-46728200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr21:46722800-46728600	Weak transcription	Fetal Thymus	thymus
9	chr21:46722800-46730200	Enhancers	Fetal Muscle Leg	muscle
10	chr21:46723000-46728000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr21:46723000-46730800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:46723200-46727400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr21:46723400-46728000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr21:46724000-46728000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr21:46724200-46730200	Enhancers	Pancreas	Pancrea
16	chr21:46724800-46728600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr21:46724800-46728600	Enhancers	NH-A	brain
18	chr21:46725000-46728800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr21:46725000-46729600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:46725000-46730200	Enhancers	Fetal Lung	lung
21	chr21:46725400-46728000	Weak transcription	Primary T cells from cord blood	blood
22	chr21:46725600-46729000	Enhancers	Esophagus	oesophagus
23	chr21:46725800-46728800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr21:46725800-46730800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr21:46725800-46730800	Enhancers	Ovary	ovary
26	chr21:46726000-46728000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr21:46726000-46729200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr21:46726200-46727400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:46726200-46728200	Enhancers	Fetal Kidney	kidney
30	chr21:46726200-46728400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr21:46726200-46728800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr21:46726200-46729400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr21:46726200-46729600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr21:46726200-46730200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr21:46726200-46730200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr21:46726200-46730200	Enhancers	Brain Substantia Nigra	brain
37	chr21:46726200-46730200	Bivalent Enhancer	Placenta	Placenta
38	chr21:46726200-46731400	Enhancers	Fetal Intestine Small	intestine
39	chr21:46726400-46727800	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr21:46726400-46728000	Enhancers	Adipose Nuclei	Adipose
41	chr21:46726400-46728000	Enhancers	Fetal Intestine Large	intestine
42	chr21:46726400-46728200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
43	chr21:46726400-46729200	Enhancers	Lung	lung
44	chr21:46726400-46730000	Enhancers	NHLF	lung
45	chr21:46726400-46730200	Enhancers	Liver	Liver
46	chr21:46726400-46730200	Enhancers	Left Ventricle	heart
47	chr21:46726400-46730200	Enhancers	Right Atrium	heart
48	chr21:46726400-46730400	Enhancers	Right Ventricle	heart
49	chr21:46726600-46727400	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr21:46726600-46727400	Bivalent Enhancer	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links