Variant report

Variant	rs4687625
Chromosome Location	chr3:52563718-52563719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:52563412-52565225	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr3:52562975-52564548	K562	blood:	n/a	n/a
3	POLR2A	chr3:52562836-52564910	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr3:52557221-52564466	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr3:52563379-52564607	K562	blood:	n/a	n/a
6	POLR2A	chr3:52563587-52563990	HepG2	liver:	n/a	n/a
7	EP300	chr3:52563162-52564715	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr3:52557107-52565043	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr3:52563501-52565690	U87	brain:	n/a	n/a
10	POLR2A	chr3:52562830-52564717	K562	blood:	n/a	n/a
11	POLR2A	chr3:52563182-52567206	K562	blood:	n/a	n/a
12	POLR2A	chr3:52563465-52564582	HepG2	liver:	n/a	n/a
13	POLR2A	chr3:52560598-52572342	HepG2	liver:	n/a	n/a
14	POLR2A	chr3:52563164-52564651	HepG2	liver:	n/a	n/a
15	POLR2A	chr3:52563374-52564517	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr3:52563396-52565690	U87	brain:	n/a	n/a
17	POLR2A	chr3:52563026-52564606	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr3:52563448-52564215	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr3:52557044-52564804	HUVEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:52541025..52543370-chr3:52561947..52564840,2	K562	blood:
2	chr3:52559482..52561203-chr3:52562436..52565441,3	MCF-7	breast:
3	chr3:52552118..52554542-chr3:52561235..52564270,3	MCF-7	breast:

No data

Variant related genes	Relation type
SMIM4	TF binding region
NT5DC2	TF binding region
ENSG00000010327	Chromatin interaction
ENSG00000168268	Chromatin interaction

Extended variants
information (count: 169 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs1010552	0.89[CHB][hapmap]
rs1010553	0.85[CHB][hapmap]
rs1010554	0.95[CHB][hapmap]
rs10510760	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10865973	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10865974	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1108842	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs11130307	0.83[ASN][1000 genomes]
rs11130308	0.81[ASN][1000 genomes]
rs11130310	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs11130312	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11130315	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11130317	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11177	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs11235	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs1133415	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11708075	0.83[ASN][1000 genomes]
rs11709284	0.93[ASN][1000 genomes]
rs11709448	0.82[ASN][1000 genomes]
rs11711421	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11714419	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11714565	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11716747	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11717043	0.81[ASN][1000 genomes]
rs11718420	0.81[ASN][1000 genomes]
rs11718509	0.81[ASN][1000 genomes]
rs11720159	0.95[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs11720243	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11720432	0.81[ASN][1000 genomes]
rs12486847	0.81[ASN][1000 genomes]
rs12487445	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs12487591	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs12488461	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs12489732	0.99[ASN][1000 genomes]
rs12489828	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs12496634	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12498066	0.81[ASN][1000 genomes]
rs12629701	0.81[ASN][1000 genomes]
rs12632381	0.83[ASN][1000 genomes]
rs12635140	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13059862	0.94[ASN][1000 genomes]
rs13060048	0.94[ASN][1000 genomes]
rs13063160	0.90[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs13064064	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs13065851	0.82[ASN][1000 genomes]
rs13068293	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs13076398	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13079063	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs13081028	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs13083798	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs13085331	0.81[ASN][1000 genomes]
rs13085775	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs13085895	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13303	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs13621	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1561337	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs1570	0.96[ASN][1000 genomes]
rs17052256	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17052259	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17264436	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs1821879	0.92[ASN][1000 genomes]
rs1866268	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1961958	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1961959	0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2015971	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2028216	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2083180	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2118540	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2164884	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2164885	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2251219	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2276824	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs2289247	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2289249	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2289250	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2336145	0.83[ASN][1000 genomes]
rs2336146	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2336149	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2577831	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2590838	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs28661185	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2878628	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs33964154	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs33967311	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs34005367	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34017441	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs34115864	0.83[ASN][1000 genomes]
rs34173654	0.82[ASN][1000 genomes]
rs34215106	0.81[ASN][1000 genomes]
rs34537256	0.81[ASN][1000 genomes]
rs34754793	0.81[ASN][1000 genomes]
rs34954168	0.83[ASN][1000 genomes]
rs35107891	0.84[ASN][1000 genomes]
rs35249778	0.81[ASN][1000 genomes]
rs35409678	0.80[ASN][1000 genomes]
rs35526119	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3733039	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3733041	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3733045	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3755798	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs3755806	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs3774365	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs3774366	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3796353	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3852066	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4234633	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4282054	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4434138	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4475032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687546	0.83[ASN][1000 genomes]
rs4687547	0.83[ASN][1000 genomes]
rs4687548	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs4687624	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4687626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4687629	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4687633	0.81[ASN][1000 genomes]
rs4687636	0.81[ASN][1000 genomes]
rs4687637	0.81[ASN][1000 genomes]
rs4687638	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs4687639	0.81[ASN][1000 genomes]
rs62253700	0.83[ASN][1000 genomes]
rs62253703	0.81[ASN][1000 genomes]
rs62253733	0.82[ASN][1000 genomes]
rs62256903	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6445528	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6445534	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6617	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs66782572	0.82[ASN][1000 genomes]
rs6762457	0.83[ASN][1000 genomes]
rs6762813	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs6778735	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6778844	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6786043	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6786919	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6788887	0.94[ASN][1000 genomes]
rs6788993	0.94[ASN][1000 genomes]
rs6790330	0.80[ASN][1000 genomes]
rs6798246	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs68021750	0.83[ASN][1000 genomes]
rs6804145	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6805156	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6976	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs731831	0.85[CHB][hapmap]
rs7611731	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7614498	0.80[ASN][1000 genomes]
rs7614981	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs7622694	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7623199	0.83[ASN][1000 genomes]
rs7624716	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7625743	0.83[ASN][1000 genomes]
rs7628578	0.81[ASN][1000 genomes]
rs7636227	0.94[ASN][1000 genomes]
rs7638808	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7652191	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8906	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9758945	0.90[ASN][1000 genomes]
rs9853056	0.90[CHB][hapmap]
rs9879090	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs9917834	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv834697	chr3:52400578-52579417	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv876792	chr3:52430526-52575831	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv876793	chr3:52450043-52584787	Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	esv1818902	chr3:52481406-52572056	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv590305	chr3:52535586-52569480	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv590307	chr3:52540773-52572056	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription 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	28 gene(s)	inside rSNPs	diseases
9	nsv876795	chr3:52544470-52572056	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv876796	chr3:52549676-52572056	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4687625	GLT8D1	Cis_1M	lymphoblastoid	RTeQTL
rs4687625	MUSTN1	cis	Artery Aorta	GTEx
rs4687625	NT5DC2	Cis_1M	lymphoblastoid	RTeQTL
rs4687625	NT5DC2	cis	multi-tissue	Pritchard
rs4687625	NT5DC2	cis	Skin Sun Exposed Lower leg	GTEx
rs4687625	FLJ12442	cis	multi-tissue	Pritchard

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52533600-52566000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:52536600-52564000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:52550600-52566600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:52552800-52565400	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:52552800-52566000	Weak transcription	Stomach Mucosa	stomach
6	chr3:52552800-52566200	Weak transcription	Brain Angular Gyrus	brain
7	chr3:52554200-52566000	Weak transcription	HSMM	muscle
8	chr3:52554800-52567200	Weak transcription	Aorta	Aorta
9	chr3:52555400-52565200	Strong transcription	Fetal Intestine Small	intestine
10	chr3:52555800-52565200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:52556000-52566000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:52556200-52563800	Strong transcription	Fetal Brain Female	brain
13	chr3:52556200-52564000	Strong transcription	Brain Germinal Matrix	brain
14	chr3:52556200-52565200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:52556600-52564200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:52556800-52564200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:52556800-52566400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:52557000-52563800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:52557000-52565800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:52557200-52563800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:52557400-52564600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr3:52557400-52564600	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr3:52557400-52565000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:52557400-52565800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr3:52558200-52566200	Genic enhancers	Fetal Lung	lung
26	chr3:52558400-52566200	Weak transcription	Fetal Kidney	kidney
27	chr3:52558400-52566200	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr3:52558400-52567000	Weak transcription	Small Intestine	intestine
29	chr3:52558600-52566200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:52558600-52566600	Weak transcription	Colon Smooth Muscle	Colon
31	chr3:52558800-52566400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr3:52558800-52566600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr3:52559000-52566800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr3:52559200-52565800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:52559800-52566400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr3:52560000-52566000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr3:52560200-52566600	Weak transcription	Liver	Liver
38	chr3:52560600-52563800	Strong transcription	Fetal Muscle Leg	muscle
39	chr3:52560600-52566800	Weak transcription	HSMMtube	muscle
40	chr3:52561000-52564000	Genic enhancers	Spleen	Spleen
41	chr3:52561200-52564200	Genic enhancers	Esophagus	oesophagus
42	chr3:52561200-52564800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:52561400-52564000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:52561400-52564000	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr3:52561400-52565800	Weak transcription	Hela-S3	cervix
46	chr3:52561600-52564000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:52561600-52565400	Weak transcription	GM12878-XiMat	blood
48	chr3:52562000-52564800	Strong transcription	K562	blood
49	chr3:52562000-52566000	Weak transcription	HMEC	breast
50	chr3:52562200-52563800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links