Variant report

Variant	rs73284143
Chromosome Location	chr14:65959443-65959444
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65878209..65880671-chr14:65959181..65961196,2	MCF-7	breast:
2	chr14:65949225..65952104-chr14:65958180..65961178,2	MCF-7	breast:
3	chr14:65959431..65962264-chr14:65964141..65966912,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10138765	0.81[EUR][1000 genomes]
rs11844747	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11849252	0.86[EUR][1000 genomes]
rs11849862	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11850847	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11851013	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11851772	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12431420	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12433827	0.93[EUR][1000 genomes]
rs12434585	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12434854	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12437427	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17246007	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17246035	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17246042	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17246259	0.88[EUR][1000 genomes]
rs17826580	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17826724	0.86[EUR][1000 genomes]
rs17826736	0.82[EUR][1000 genomes]
rs17826790	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17826796	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17826820	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1953417	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1998035	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2073294	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2152375	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2184602	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2268957	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2268958	0.80[EUR][1000 genomes]
rs2300867	0.81[EUR][1000 genomes]
rs2300871	0.81[EUR][1000 genomes]
rs2300872	0.80[EUR][1000 genomes]
rs56156482	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57201867	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57451368	0.91[EUR][1000 genomes]
rs58032513	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58115860	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58227678	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59117465	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59204447	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59561356	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59676254	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59685862	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59822422	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59921977	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60396689	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60554055	0.91[EUR][1000 genomes]
rs60852857	0.80[ASN][1000 genomes]
rs60927973	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60942639	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61315421	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61533229	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7140261	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7145574	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7150362	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7150564	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7153679	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73268512	0.88[EUR][1000 genomes]
rs73268521	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73268524	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73268557	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73284121	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73284133	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73286118	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73286169	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73286173	0.88[EUR][1000 genomes]
rs8005309	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8018909	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8019491	0.81[EUR][1000 genomes]
rs884247	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9635251	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv456327	chr14:65955517-66052901	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv564951	chr14:65955517-66052901	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv832819	chr14:65957949-66106019	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65931400-65966200	Weak transcription	Aorta	Aorta
2	chr14:65937400-65961600	Weak transcription	Fetal Intestine Large	intestine
3	chr14:65938400-65963400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr14:65939000-65969400	Weak transcription	Dnd41	blood
5	chr14:65945200-65980000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr14:65949600-65970200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:65950000-65965000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:65950000-65966000	Weak transcription	Psoas Muscle	Psoas
9	chr14:65950000-65969400	Weak transcription	NH-A	brain
10	chr14:65950000-65973400	Weak transcription	Gastric	stomach
11	chr14:65952200-65960000	Enhancers	Brain Substantia Nigra	brain
12	chr14:65952600-65963200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:65953600-65959800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:65953800-65970600	Weak transcription	Stomach Mucosa	stomach
15	chr14:65955200-65960600	Weak transcription	Brain Germinal Matrix	brain
16	chr14:65955400-65960000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:65956600-65963000	Weak transcription	Primary T cells from cord blood	blood
18	chr14:65957400-65959800	Enhancers	Brain Anterior Caudate	brain
19	chr14:65957400-65960000	Strong transcription	Primary B cells from cord blood	blood
20	chr14:65957600-65964200	ZNF genes & repeats	GM12878-XiMat	blood
21	chr14:65957600-65967800	Weak transcription	Small Intestine	intestine
22	chr14:65958000-65959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:65958000-65960200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr14:65958200-65959600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:65958200-65960200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:65958800-65960000	Enhancers	Brain Cingulate Gyrus	brain
27	chr14:65959000-65959800	Enhancers	Brain Hippocampus Middle	brain
28	chr14:65959200-65959800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:65959400-65963400	Weak transcription	Primary B cells from peripheral blood	blood

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