Variant report

Variant	rs1123540
Chromosome Location	chr21:47874268-47874269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:47874033-47874534	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr21:47873935-47876254	K562	blood:	n/a	n/a
3	NFIC	chr21:47873934-47874512	SK-N-SH	brain:	n/a	n/a
4	EP300	chr21:47874032-47874415	SK-N-SH_RA	brain:	n/a	n/a
5	PBX3	chr21:47873970-47874458	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr21:47873863-47874621	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr21:47873564-47874913	HepG2	liver:	n/a	n/a
8	POLR2A	chr21:47874022-47874550	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr21:47874010-47874374	SK-N-SH_RA	brain:	n/a	n/a
10	POLR2A	chr21:47873718-47874491	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr21:47873754-47874335	PFSK-1	brain:	n/a	n/a
12	NFIC	chr21:47873848-47874928	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr21:47873842-47874595	SK-N-SH	brain:	n/a	n/a
14	PBX3	chr21:47873917-47874622	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:47869496..47871306-chr21:47873058..47875050,2	MCF-7	breast:
2	chr21:47862357..47865195-chr21:47870982..47877612,5	K562	blood:
3	chr21:47869824..47871915-chr21:47873149..47875382,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf58-1	chr21:47871407-47878519	NONHSAT083070

No data

Variant related genes	Relation type
DIP2A	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1029262	0.90[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.86[MEX][hapmap];0.91[ASN][1000 genomes]
rs11089066	0.90[ASN][1000 genomes]
rs11089068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11089069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11089071	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11089072	0.90[ASN][1000 genomes]
rs12152107	0.95[MEX][hapmap]
rs12185864	0.90[ASN][1000 genomes]
rs12482279	0.92[ASN][1000 genomes]
rs12483081	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12483421	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626200	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12626961	0.90[ASN][1000 genomes]
rs12627331	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12627653	0.91[ASN][1000 genomes]
rs13047052	0.89[ASN][1000 genomes]
rs1977907	0.89[ASN][1000 genomes]
rs2012217	0.91[ASN][1000 genomes]
rs2032111	0.82[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2051190	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2070426	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2070434	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2073374	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2073376	0.90[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2073377	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073381	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186350	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2249970	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255397	0.81[MEX][hapmap]
rs2268522	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2300563	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2330594	0.94[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2839257	0.90[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2839261	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2839265	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839268	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2839270	0.82[ASW][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap];0.87[MKK][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2839275	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2839276	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2839280	0.92[ASN][1000 genomes]
rs2839284	0.94[ASN][1000 genomes]
rs2839285	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2839296	0.89[ASN][1000 genomes]
rs2839297	1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2839299	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2839313	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.92[ASN][1000 genomes]
rs2839317	0.94[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2839329	0.89[ASW][hapmap];0.95[MEX][hapmap]
rs2839337	0.86[MEX][hapmap]
rs34590323	0.89[ASN][1000 genomes]
rs34736293	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3747010	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[ASN][1000 genomes]
rs4267585	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4431027	0.91[ASN][1000 genomes]
rs4819256	0.90[ASN][1000 genomes]
rs59500178	0.89[ASN][1000 genomes]
rs59977673	0.90[ASN][1000 genomes]
rs62224256	0.87[ASN][1000 genomes]
rs62224257	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62224258	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62225682	0.87[ASN][1000 genomes]
rs7279991	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs762250	0.90[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[YRI][hapmap]
rs8132022	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs881827	0.95[MEX][hapmap]
rs9789884	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9975345	0.92[ASN][1000 genomes]
rs9980536	0.92[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap]
rs9984247	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
2	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
3	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
4	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
5	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
6	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
7	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
8	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
9	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
10	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
11	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
12	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
13	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
14	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
15	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
16	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
17	nsv914136	chr21:47681041-47900994	Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	n/a
18	nsv933061	chr21:47746204-48031515	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
19	nsv1062858	chr21:47750884-48091343	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
20	nsv587995	chr21:47803949-47877594	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
21	nsv1056321	chr21:47835146-47973412	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
22	nsv917208	chr21:47836346-47988603	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
23	nsv1058397	chr21:47851176-48091343	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
24	nsv459312	chr21:47856106-47985655	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS 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	30 gene(s)	inside rSNPs	n/a
25	nsv587998	chr21:47856106-47985655	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
26	nsv1065502	chr21:47865215-48091343	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1123540	PCNT	cis	parietal	SCAN
rs1123540	MCM3AP	cis	lymphoblastoid	seeQTL
rs1123540	C21orf57	cis	multi-tissue	Pritchard
rs1123540	C21orf57	cis	cerebellum	SCAN
rs1123540	PTTG1IP	cis	parietal	SCAN
rs1123540	PCNT	cis	lymphoblastoid	seeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47845600-47877400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr21:47851000-47876000	Weak transcription	Small Intestine	intestine
3	chr21:47858400-47877400	Weak transcription	Stomach Mucosa	stomach
4	chr21:47862000-47876800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr21:47862400-47876200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr21:47863000-47877200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr21:47863200-47876600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr21:47863200-47877200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:47863400-47874600	Weak transcription	Adipose Nuclei	Adipose
10	chr21:47864000-47875600	Weak transcription	Esophagus	oesophagus
11	chr21:47864200-47874600	Weak transcription	Lung	lung
12	chr21:47864400-47875400	Weak transcription	NHLF	lung
13	chr21:47864600-47877800	Weak transcription	Aorta	Aorta
14	chr21:47864800-47875800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr21:47865400-47876200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:47865600-47874400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr21:47865600-47874600	Weak transcription	Liver	Liver
18	chr21:47865600-47875200	Weak transcription	NHDF-Ad	bronchial
19	chr21:47865800-47874600	Weak transcription	HSMMtube	muscle
20	chr21:47865800-47875000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr21:47865800-47875200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr21:47866000-47877200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr21:47866200-47874800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr21:47866400-47875800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr21:47866400-47876200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr21:47866800-47874400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr21:47867400-47874400	Weak transcription	NHEK	skin
28	chr21:47867400-47875400	Weak transcription	Fetal Lung	lung
29	chr21:47867800-47875000	Weak transcription	HSMM	muscle
30	chr21:47868800-47875000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr21:47869600-47874800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr21:47869800-47875000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr21:47869800-47875600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr21:47869800-47876400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr21:47870000-47875200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr21:47870000-47875800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr21:47870000-47877200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr21:47870200-47874800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr21:47870200-47875000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr21:47870200-47875000	Weak transcription	Dnd41	blood
41	chr21:47870200-47877200	Weak transcription	Brain Germinal Matrix	brain
42	chr21:47870200-47877400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr21:47870200-47877400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr21:47870400-47875200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr21:47870400-47875200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr21:47870400-47875600	Weak transcription	Fetal Stomach	stomach
47	chr21:47871000-47875000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr21:47871000-47875000	Weak transcription	GM12878-XiMat	blood
49	chr21:47871000-47875400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr21:47871400-47874600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links