Variant report

Variant	rs11844747
Chromosome Location	chr14:65870128-65870129
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65864996..65866526-chr14:65868395..65870395,2	K562	blood:
2	chr14:65870073..65871791-chr14:65877472..65880048,2	K562	blood:

Variant related genes	Relation type
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10083344	0.84[EUR][1000 genomes]
rs10083346	0.82[EUR][1000 genomes]
rs10083348	0.82[EUR][1000 genomes]
rs10083421	0.82[EUR][1000 genomes]
rs10083485	0.82[EUR][1000 genomes]
rs10083488	0.82[EUR][1000 genomes]
rs10083525	0.82[EUR][1000 genomes]
rs10130760	0.82[EUR][1000 genomes]
rs10136947	0.82[EUR][1000 genomes]
rs10136953	0.80[EUR][1000 genomes]
rs10138765	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10146374	0.85[EUR][1000 genomes]
rs11844348	0.82[EUR][1000 genomes]
rs11845794	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11849252	1.00[CEU][hapmap]
rs11850160	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[GIH][hapmap];0.80[MEX][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11850163	1.00[CEU][hapmap]
rs11850847	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs11851013	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11851772	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs12431420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12433416	0.82[EUR][1000 genomes]
rs12433423	0.82[EUR][1000 genomes]
rs12433827	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs12434585	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12434854	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12437427	0.87[EUR][1000 genomes]
rs17246007	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17246035	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17246042	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17826448	0.80[EUR][1000 genomes]
rs17826466	0.82[EUR][1000 genomes]
rs17826580	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17826724	1.00[CEU][hapmap]
rs1953417	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2073294	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2152375	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2184602	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28502530	0.82[EUR][1000 genomes]
rs28581569	0.82[EUR][1000 genomes]
rs28668545	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56156482	0.83[EUR][1000 genomes]
rs56756005	0.82[EUR][1000 genomes]
rs57298509	0.83[EUR][1000 genomes]
rs57640052	0.83[EUR][1000 genomes]
rs58115860	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58155831	0.82[EUR][1000 genomes]
rs59117465	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59561356	0.81[EUR][1000 genomes]
rs59676254	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59685862	0.83[EUR][1000 genomes]
rs59822422	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59921977	0.81[EUR][1000 genomes]
rs60396689	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60927973	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61315421	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7140261	0.85[EUR][1000 genomes]
rs7145574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150362	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7150564	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153679	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs73282213	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73282223	0.82[EUR][1000 genomes]
rs73282230	0.82[EUR][1000 genomes]
rs73282232	0.82[EUR][1000 genomes]
rs73282237	0.82[EUR][1000 genomes]
rs73282242	0.82[EUR][1000 genomes]
rs73282250	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73282256	0.82[EUR][1000 genomes]
rs73282260	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73284121	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73284133	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73284143	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73286169	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8005309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs8017202	0.82[EUR][1000 genomes]
rs8018909	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8022077	0.82[EUR][1000 genomes]
rs8022350	0.82[EUR][1000 genomes]
rs8023130	0.82[EUR][1000 genomes]
rs884247	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9635251	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
2	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS 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	35 gene(s)	inside rSNPs	diseases
6	nsv1044363	chr14:65850832-65870128	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv510639	chr14:65853883-65884315	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65860200-65874600	Weak transcription	Stomach Mucosa	stomach
2	chr14:65864400-65878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:65869000-65877800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:65869400-65871600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:65869600-65870200	Enhancers	Duodenum Mucosa	Duodenum
6	chr14:65869600-65870400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:65869600-65870400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr14:65869600-65870400	Enhancers	NHDF-Ad	bronchial
9	chr14:65869600-65870600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:65869600-65870600	Enhancers	Osteobl	bone
11	chr14:65869800-65870400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:65870000-65870400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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