Variant report

Variant	rs3093887
Chromosome Location	chr14:20812907-20812908
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20810776..20813078-chr14:21149132..21154522,5	MCF-7	breast:
2	chr14:20809897..20813381-chr14:20823524..20827429,6	MCF-7	breast:
3	chr14:20809943..20813054-chr14:20921915..20924936,4	MCF-7	breast:
4	chr14:20810118..20813648-chr14:20925784..20931556,9	MCF-7	breast:
5	chr14:20811638..20813233-chr14:20813576..20815950,2	MCF-7	breast:
6	chr14:20811145..20813095-chr14:20923393..20925186,2	K562	blood:
7	chr14:20810709..20813377-chr14:20857493..20860829,3	MCF-7	breast:
8	chr14:20810111..20813161-chr14:21149711..21152468,4	K562	blood:
9	chr14:20810041..20813384-chr14:20935508..20939122,8	MCF-7	breast:
10	chr14:20809095..20813799-chr14:21074403..21078570,5	MCF-7	breast:
11	chr14:20807684..20813516-chr14:20919958..20928823,14	K562	blood:
12	chr14:20810396..20814723-chr14:20817267..20820679,8	MCF-7	breast:
13	chr14:20810182..20812934-chr14:20937866..20940179,2	K562	blood:
14	chr14:20811759..20814135-chr14:20820161..20822518,2	MCF-7	breast:
15	chr14:20808270..20815666-chr14:20919802..20926735,19	MCF-7	breast:
16	chr14:20810407..20812907-chr14:21075998..21078180,2	K562	blood:
17	chr14:20810147..20812907-chr14:20836126..20842394,9	MCF-7	breast:
18	chr14:20809950..20813130-chr14:21150094..21153288,8	MCF-7	breast:
19	chr14:20809378..20813101-chr14:20879937..20884504,11	MCF-7	breast:
20	chr14:20809910..20813476-chr14:20877400..20881790,6	MCF-7	breast:
21	chr14:20810751..20813443-chr14:21076294..21078959,4	MCF-7	breast:
22	chr14:20809818..20812962-chr14:20928607..20931811,3	K562	blood:
23	chr14:20810223..20812919-chr14:20881907..20884862,2	K562	blood:
24	chr14:20809761..20813005-chr14:20927609..20931720,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200225	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000254846	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000259060	Chromatin interaction
ENSG00000165782	Chromatin interaction
ENSG00000129566	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000258818	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000259171	Chromatin interaction
ENSG00000173464	Chromatin interaction
ENSG00000214274	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10131757	1.00[EUR][1000 genomes]
rs10498267	1.00[EUR][1000 genomes]
rs3093878	0.89[AFR][1000 genomes]
rs3093879	1.00[EUR][1000 genomes]
rs3093889	1.00[EUR][1000 genomes]
rs3093891	1.00[EUR][1000 genomes]
rs3093895	1.00[EUR][1000 genomes]
rs3093911	1.00[EUR][1000 genomes]
rs3093927	1.00[EUR][1000 genomes]
rs56303826	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7160447	1.00[EUR][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	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats 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 target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers 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	87 gene(s)	inside rSNPs	diseases
7	nsv1042025	chr14:20787961-20817851	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
8	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20809600-20813000	Active TSS	K562	blood
2	chr14:20810000-20813000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:20810000-20813000	Active TSS	Brain Germinal Matrix	brain
4	chr14:20812000-20813800	Weak transcription	Lung	lung
5	chr14:20812000-20820600	Weak transcription	Spleen	Spleen
6	chr14:20812000-20822600	Weak transcription	Gastric	stomach
7	chr14:20812200-20813200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:20812200-20813200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:20812200-20813400	Weak transcription	Left Ventricle	heart
10	chr14:20812200-20813800	Weak transcription	Ovary	ovary
11	chr14:20812200-20815200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:20812200-20815200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:20812200-20815800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:20812200-20817800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr14:20812200-20822600	Weak transcription	Pancreas	Pancrea
16	chr14:20812200-20824000	Weak transcription	Aorta	Aorta
17	chr14:20812200-20825400	Weak transcription	Esophagus	oesophagus
18	chr14:20812400-20813200	Weak transcription	Fetal Intestine Large	intestine
19	chr14:20812400-20813400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:20812400-20815200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:20812400-20815200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr14:20812400-20815800	Weak transcription	Small Intestine	intestine
23	chr14:20812400-20816000	Weak transcription	Thymus	Thymus
24	chr14:20812400-20818000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr14:20812400-20820400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:20812400-20824400	Weak transcription	Stomach Mucosa	stomach
27	chr14:20812400-20880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr14:20812600-20813000	Enhancers	Brain Anterior Caudate	brain
29	chr14:20812600-20813000	Enhancers	Fetal Stomach	stomach
30	chr14:20812600-20813200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:20812600-20813200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr14:20812600-20813200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:20812600-20813200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:20812600-20813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:20812600-20813200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:20812600-20813200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:20812600-20813200	Weak transcription	Primary T cells from cord blood	blood
38	chr14:20812600-20813200	Enhancers	Brain Cingulate Gyrus	brain
39	chr14:20812600-20813200	Enhancers	Brain Hippocampus Middle	brain
40	chr14:20812600-20813200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:20812600-20813200	Enhancers	Fetal Brain Male	brain
42	chr14:20812600-20813200	Weak transcription	Fetal Kidney	kidney
43	chr14:20812600-20813200	Weak transcription	Fetal Muscle Leg	muscle
44	chr14:20812600-20813200	Weak transcription	Placenta	Placenta
45	chr14:20812600-20813200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:20812600-20813200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr14:20812600-20813200	Weak transcription	HSMMtube	muscle
48	chr14:20812600-20813400	Weak transcription	Primary B cells from cord blood	blood
49	chr14:20812600-20813400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:20812600-20813400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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