Variant report

Variant	rs500100
Chromosome Location	chr3:121273529-121273530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10451895	0.88[ASN][1000 genomes]
rs11706583	0.88[ASN][1000 genomes]
rs11709378	0.86[ASN][1000 genomes]
rs11711667	0.82[ASN][1000 genomes]
rs11714746	0.90[ASN][1000 genomes]
rs11714774	0.91[ASN][1000 genomes]
rs11718918	0.82[ASN][1000 genomes]
rs12488196	0.90[ASN][1000 genomes]
rs12632308	0.82[ASN][1000 genomes]
rs12635218	0.82[ASN][1000 genomes]
rs13059229	0.88[ASN][1000 genomes]
rs13077237	0.82[ASN][1000 genomes]
rs13077305	0.90[ASN][1000 genomes]
rs13080007	0.82[ASN][1000 genomes]
rs13082118	0.95[ASN][1000 genomes]
rs13085365	0.88[ASN][1000 genomes]
rs13095550	0.85[ASN][1000 genomes]
rs13097659	0.82[ASN][1000 genomes]
rs13100579	0.90[ASN][1000 genomes]
rs1381059	0.82[ASN][1000 genomes]
rs1877968	0.93[ASN][1000 genomes]
rs1877969	0.93[ASN][1000 genomes]
rs2169301	0.88[ASN][1000 genomes]
rs2331962	0.88[ASN][1000 genomes]
rs28406368	0.82[ASN][1000 genomes]
rs3218649	0.82[ASN][1000 genomes]
rs3732406	0.82[ASN][1000 genomes]
rs3772122	0.82[ASN][1000 genomes]
rs3772124	0.83[ASN][1000 genomes]
rs3806614	0.90[ASN][1000 genomes]
rs3845860	0.83[ASN][1000 genomes]
rs3845863	0.83[ASN][1000 genomes]
rs3911713	0.82[ASN][1000 genomes]
rs4555467	0.82[ASN][1000 genomes]
rs4676680	0.87[ASN][1000 genomes]
rs4676728	0.93[ASN][1000 genomes]
rs488636	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs500103	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs502643	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs513380	0.83[EUR][1000 genomes]
rs524026	0.87[EUR][1000 genomes]
rs541818	0.86[EUR][1000 genomes]
rs575913	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs587553	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66922316	0.83[ASN][1000 genomes]
rs6778684	0.82[ASN][1000 genomes]
rs6793252	0.83[ASN][1000 genomes]
rs6797682	0.95[ASN][1000 genomes]
rs6806191	0.80[EUR][1000 genomes]
rs693403	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs702019	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7612018	0.90[ASN][1000 genomes]
rs7617748	0.88[ASN][1000 genomes]
rs7622867	0.88[ASN][1000 genomes]
rs7622881	0.90[ASN][1000 genomes]
rs7622897	0.82[ASN][1000 genomes]
rs7628081	0.90[ASN][1000 genomes]
rs7633930	0.90[ASN][1000 genomes]
rs7645050	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
13	esv3463503	chr3:121272501-121273549	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3463504	chr3:121272501-121273549	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121265800-121280600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr3:121271600-121276000	Weak transcription	Rectal Mucosa Donor 31	rectum

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