Variant report

Variant	rs3093883
Chromosome Location	chr14:20812472-20812473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr14:20810435-20812496	SK-N-SH	brain:	n/a	chr14:20811878-20811887 chr14:20811779-20811788
2	TEAD4	chr14:20811149-20812561	K562	blood:	n/a	n/a
3	REST	chr14:20810402-20812735	H1-neurons	neurons:	n/a	chr14:20810852-20810872
4	SREBP2	chr14:20810435-20812520	GM12878	blood:	n/a	n/a
5	MYBL2	chr14:20811048-20812533	HepG2	liver:	n/a	n/a
6	TAL1	chr14:20812308-20812678	K562	blood:	n/a	n/a
7	CEBPB	chr14:20811440-20812525	K562	blood:	n/a	chr14:20812332-20812341
8	KAP1	chr14:20811247-20812582	U2OS	brain:	n/a	n/a
9	HCFC1	chr14:20810384-20812691	Hela-S3	cervix:	n/a	n/a
10	MXI1	chr14:20810076-20812526	SK-N-SH	brain:	n/a	n/a
11	KAP1	chr14:20810515-20812558	HEK293	kidney:	n/a	n/a

No data

(count:28 , 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	chr14:20809730..20812813-chr14:21079988..21085543,7	MCF-7	breast:
7	chr14:20790753..20792292-chr14:20811267..20812896,2	MCF-7	breast:
8	chr14:20811145..20813095-chr14:20923393..20925186,2	K562	blood:
9	chr14:20810709..20813377-chr14:20857493..20860829,3	MCF-7	breast:
10	chr14:20810111..20813161-chr14:21149711..21152468,4	K562	blood:
11	chr14:20809894..20812869-chr7:150755610..150758204,2	MCF-7	breast:
12	chr14:20810041..20813384-chr14:20935508..20939122,8	MCF-7	breast:
13	chr14:20809095..20813799-chr14:21074403..21078570,5	MCF-7	breast:
14	chr14:20807684..20813516-chr14:20919958..20928823,14	K562	blood:
15	chr14:20810396..20814723-chr14:20817267..20820679,8	MCF-7	breast:
16	chr14:20810314..20812793-chr15:38855404..38857234,2	MCF-7	breast:
17	chr14:20810182..20812934-chr14:20937866..20940179,2	K562	blood:
18	chr14:20811759..20814135-chr14:20820161..20822518,2	MCF-7	breast:
19	chr14:20808270..20815666-chr14:20919802..20926735,19	MCF-7	breast:
20	chr14:20810407..20812907-chr14:21075998..21078180,2	K562	blood:
21	chr14:20810147..20812907-chr14:20836126..20842394,9	MCF-7	breast:
22	chr14:20809950..20813130-chr14:21150094..21153288,8	MCF-7	breast:
23	chr14:20809378..20813101-chr14:20879937..20884504,11	MCF-7	breast:
24	chr14:20809910..20813476-chr14:20877400..20881790,6	MCF-7	breast:
25	chr14:20810751..20813443-chr14:21076294..21078959,4	MCF-7	breast:
26	chr14:20809818..20812962-chr14:20928607..20931811,3	K562	blood:
27	chr14:20810223..20812919-chr14:20881907..20884862,2	K562	blood:
28	chr14:20809761..20813005-chr14:20927609..20931720,11	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCNB1IP1-2	chr14:20812392-20812535	ENSG00000254846.1

No data

Variant related genes	Relation type
RPPH1	TF binding region
ENSG00000164889	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000200225	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000172575	Chromatin interaction
ENSG00000259171	Chromatin interaction
ENSG00000173464	Chromatin interaction
ENSG00000254846	Chromatin interaction
ENSG00000164885	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000239327	Chromatin interaction
ENSG00000258818	Chromatin interaction
ENSG00000259060	Chromatin interaction
ENSG00000129566	Chromatin interaction
ENSG00000214274	Chromatin interaction
ENSG00000165782	Chromatin interaction
ENSG00000222489	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1953550	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2318863	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3093868	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093871	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093878	0.84[EUR][1000 genomes]
rs3093894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45583431	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs45622542	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56383558	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58959974	1.00[ASN][1000 genomes]
rs60052229	1.00[ASN][1000 genomes]
rs61993950	1.00[AFR][1000 genomes]
rs61993951	1.00[AFR][1000 genomes]
rs61993952	1.00[AFR][1000 genomes]
rs61993953	1.00[AFR][1000 genomes]
rs61993956	1.00[AFR][1000 genomes]
rs61993957	1.00[AFR][1000 genomes]
rs61993958	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61993959	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995461	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995462	1.00[ASN][1000 genomes]
rs61995463	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995493	1.00[ASN][1000 genomes]
rs61995494	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995495	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995497	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995498	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995500	1.00[ASN][1000 genomes]
rs61995503	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995504	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995508	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995509	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995513	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995534	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995536	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995537	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995540	1.00[AFR][1000 genomes]
rs61995542	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995544	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995545	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671246	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72671250	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73585150	1.00[ASN][1000 genomes]
rs8010392	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20809600-20813000	Active TSS	K562	blood
2	chr14:20809800-20812600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr14:20809800-20812800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:20809800-20812800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr14:20810000-20812600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:20810000-20812600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr14:20810000-20812600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:20810000-20812600	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr14:20810000-20812600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr14:20810000-20812600	Active TSS	GM12878-XiMat	blood
11	chr14:20810000-20812800	Active TSS	H1 Cell Line	embryonic stem cell
12	chr14:20810000-20812800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:20810000-20812800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:20810000-20812800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:20810000-20812800	Active TSS	HMEC	breast
16	chr14:20810000-20813000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:20810000-20813000	Active TSS	Brain Germinal Matrix	brain
18	chr14:20810200-20812600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:20810200-20812600	Active TSS	Right Atrium	heart
20	chr14:20810200-20812800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:20810200-20812800	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr14:20810400-20812600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr14:20810400-20812600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:20810400-20812600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:20810400-20812600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:20810400-20812600	Active TSS	Psoas Muscle	Psoas
27	chr14:20810400-20812600	Active TSS	HSMMtube	muscle
28	chr14:20810400-20812800	Active TSS	Stomach Smooth Muscle	stomach
29	chr14:20810400-20812800	Active TSS	HSMM	muscle
30	chr14:20811400-20812600	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr14:20811600-20812600	Active TSS	Fetal Muscle Trunk	muscle
32	chr14:20811800-20812600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:20811800-20812600	Active TSS	Fetal Heart	heart
34	chr14:20811800-20812600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr14:20811800-20812800	Active TSS	A549	lung
36	chr14:20812000-20812600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr14:20812000-20812600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:20812000-20812600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:20812000-20812600	Flanking Active TSS	Liver	Liver
40	chr14:20812000-20812600	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr14:20812000-20812600	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr14:20812000-20812600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr14:20812000-20812600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr14:20812000-20813800	Weak transcription	Lung	lung
45	chr14:20812000-20820600	Weak transcription	Spleen	Spleen
46	chr14:20812000-20822600	Weak transcription	Gastric	stomach
47	chr14:20812200-20812600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:20812200-20812600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr14:20812200-20812600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr14:20812200-20812600	Flanking Active TSS	Primary hematopoietic stem cells	blood

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