Variant report

Variant	rs4676728
Chromosome Location	chr3:121270770-121270771
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:121263491..121265604-chr3:121269317..121270972,2	K562	blood:

Variant related genes	Relation type
ENSG00000051341	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10451895	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10934551	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11705939	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11706583	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11707252	0.84[EUR][1000 genomes]
rs11707354	0.83[EUR][1000 genomes]
rs11709378	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11709726	0.83[EUR][1000 genomes]
rs11711667	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11713643	0.90[EUR][1000 genomes]
rs11714746	0.93[ASN][1000 genomes]
rs11714774	0.95[ASN][1000 genomes]
rs11718918	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12233510	0.83[EUR][1000 genomes]
rs12488196	0.93[ASN][1000 genomes]
rs12496163	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12632308	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12635218	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13059229	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13076688	0.83[EUR][1000 genomes]
rs13077237	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13077305	0.93[ASN][1000 genomes]
rs13080007	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13082118	0.98[ASN][1000 genomes]
rs13085365	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13095550	0.85[ASN][1000 genomes]
rs13097659	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13100579	0.93[ASN][1000 genomes]
rs1381058	0.91[EUR][1000 genomes]
rs1381059	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1877968	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877969	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030531	0.82[EUR][1000 genomes]
rs2169301	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2331962	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28406368	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3218649	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35362700	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3732406	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3772122	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3772124	0.86[ASN][1000 genomes]
rs3806614	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3843345	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3845860	0.86[ASN][1000 genomes]
rs3845863	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3911713	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4555467	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4676680	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4676722	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs488636	0.93[ASN][1000 genomes]
rs500100	0.93[ASN][1000 genomes]
rs500103	0.93[ASN][1000 genomes]
rs502643	0.93[ASN][1000 genomes]
rs575913	0.86[ASN][1000 genomes]
rs587553	0.95[ASN][1000 genomes]
rs61796946	0.81[ASN][1000 genomes]
rs6438631	0.84[EUR][1000 genomes]
rs6438633	0.90[EUR][1000 genomes]
rs66922316	0.86[ASN][1000 genomes]
rs6765310	0.83[EUR][1000 genomes]
rs6769377	0.81[EUR][1000 genomes]
rs6778684	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6784324	0.83[ASN][1000 genomes]
rs6793252	0.86[ASN][1000 genomes]
rs6797376	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6797682	0.98[ASN][1000 genomes]
rs693403	0.86[ASN][1000 genomes]
rs702019	0.93[ASN][1000 genomes]
rs7612018	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7613752	0.89[EUR][1000 genomes]
rs7614639	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7615529	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7617748	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7618570	0.83[EUR][1000 genomes]
rs7621376	0.83[EUR][1000 genomes]
rs7622867	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7622881	0.93[ASN][1000 genomes]
rs7622897	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7628081	0.93[ASN][1000 genomes]
rs7633930	0.93[ASN][1000 genomes]
rs7645027	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7645050	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7645544	0.83[EUR][1000 genomes]
rs7645869	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats 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	50 gene(s)	inside rSNPs	diseases
4	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv591400	chr3:121070299-121339354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv877381	chr3:121192350-121343500	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1007522	chr3:121200563-121374051	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv999349	chr3:121253990-121360206	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3445327	chr3:121260311-121288302	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv2757006	chr3:121264886-121323465	Enhancers Weak transcription Active TSS Flanking Active TSS 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	12 gene(s)	inside rSNPs	diseases
12	esv2759172	chr3:121264886-121323465	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121265600-121271000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:121265800-121270800	Weak transcription	K562	blood
3	chr3:121265800-121271200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:121265800-121271200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:121265800-121271400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:121265800-121280600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:121266000-121271000	Weak transcription	A549	lung
8	chr3:121266000-121271200	Weak transcription	Brain Anterior Caudate	brain
9	chr3:121268000-121271000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:121268000-121271000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr3:121268200-121270800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr3:121268200-121271400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr3:121270400-121270800	Enhancers	HepG2	liver
14	chr3:121270600-121270800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:121270600-121271000	Enhancers	Fetal Lung	lung

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