Variant report

Variant	rs3093868
Chromosome Location	chr14:20810311-20810312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr14:20810293-20812079	H1-hESC	embryonic stem cell:	n/a	n/a
2	HA-E2F1	chr14:20810160-20812167	MCF-7	breast:	n/a	chr14:20810623-20810640 chr14:20811879-20811888 chr14:20811780-20811789 chr14:20811716-20811725 chr14:20810770-20810779 chr14:20811778-20811787 chr14:20811732-20811743 chr14:20810754-20810765
3	CHD1	chr14:20809994-20811440	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:20810305-20810553	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr14:20810076-20812526	SK-N-SH	brain:	n/a	n/a

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20809897..20813381-chr14:20823524..20827429,6	MCF-7	breast:
2	chr14:20808367..20810653-chr14:20924028..20926387,4	K562	blood:
3	chr14:20809943..20813054-chr14:20921915..20924936,4	MCF-7	breast:
4	chr14:20810118..20813648-chr14:20925784..20931556,9	MCF-7	breast:
5	chr14:20809730..20812813-chr14:21079988..21085543,7	MCF-7	breast:
6	chr14:20772552..20774812-chr14:20810086..20811786,2	MCF-7	breast:
7	chr14:20809796..20812159-chr14:20938616..20940999,3	MCF-7	breast:
8	chr14:20810111..20813161-chr14:21149711..21152468,4	K562	blood:
9	chr14:20809894..20812869-chr7:150755610..150758204,2	MCF-7	breast:
10	chr14:20809589..20811753-chr14:20819736..20822429,2	MCF-7	breast:
11	chr14:20810041..20813384-chr14:20935508..20939122,8	MCF-7	breast:
12	chr14:20809095..20813799-chr14:21074403..21078570,5	MCF-7	breast:
13	chr14:20807684..20813516-chr14:20919958..20928823,14	K562	blood:
14	chr14:20810182..20812934-chr14:20937866..20940179,2	K562	blood:
15	chr14:20792687..20795168-chr14:20809070..20811262,2	K562	blood:
16	chr14:20808270..20815666-chr14:20919802..20926735,19	MCF-7	breast:
17	chr14:20810154..20811667-chr14:24036078..24038023,2	MCF-7	breast:
18	chr14:20810149..20812340-chr14:20869686..20872237,4	MCF-7	breast:
19	chr14:20792855..20795465-chr14:20809576..20811625,4	MCF-7	breast:
20	chr14:20810147..20812907-chr14:20836126..20842394,9	MCF-7	breast:
21	chr14:20809950..20813130-chr14:21150094..21153288,8	MCF-7	breast:
22	chr14:20809378..20813101-chr14:20879937..20884504,11	MCF-7	breast:
23	chr14:20809910..20813476-chr14:20877400..20881790,6	MCF-7	breast:
24	chr14:20809810..20811515-chr14:20846784..20849983,4	MCF-7	breast:
25	chr14:20809861..20811431-chr14:20813629..20815213,2	MCF-7	breast:
26	chr14:20809818..20812962-chr14:20928607..20931811,3	K562	blood:
27	chr14:20810085..20811615-chr14:21149711..21153396,3	K562	blood:
28	chr14:20810223..20812919-chr14:20881907..20884862,2	K562	blood:
29	chr14:20809769..20811935-chr14:20871300..20873011,2	MCF-7	breast:
30	chr11:75676550..75678071-chr14:20809872..20811501,5	MCF-7	breast:
31	chr14:20809761..20813005-chr14:20927609..20931720,11	MCF-7	breast:
32	chr14:20789888..20792247-chr14:20810100..20811908,2	MCF-7	breast:

No data

Variant related genes	Relation type
PARP2	TF binding region
ENSG00000129484	Chromatin interaction
ENSG00000164889	Chromatin interaction
ENSG00000173464	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000259171	Chromatin interaction
ENSG00000164885	Chromatin interaction
ENSG00000200225	Chromatin interaction
ENSG00000254846	Chromatin interaction
ENSG00000222489	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000239327	Chromatin interaction
ENSG00000258818	Chromatin interaction
ENSG00000214274	Chromatin interaction
ENSG00000213983	Chromatin interaction
ENSG00000238344	Chromatin interaction
ENSG00000258459	Chromatin interaction
ENSG00000259060	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000129566	Chromatin interaction
ENSG00000136319	Chromatin interaction
ENSG00000165782	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1953550	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2002245	0.81[AMR][1000 genomes]
rs2318863	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3093871	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093878	0.83[EUR][1000 genomes]
rs3093883	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093894	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093926	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45583431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs45622542	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56383558	1.00[AFR][1000 genomes];0.81[AMR][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];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61993959	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995461	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995462	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995463	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995493	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995494	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995495	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995497	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995498	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995500	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995510	0.94[AMR][1000 genomes]
rs61995513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995538	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61995540	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61995542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995546	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671246	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72671250	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73585150	1.00[ASN][1000 genomes]
rs8010392	1.00[AFR][1000 genomes];0.94[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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20802000-20810400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr14:20802400-20810400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:20809600-20810400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:20809600-20810400	Active TSS	HepG2	liver
5	chr14:20809600-20813000	Active TSS	K562	blood
6	chr14:20809800-20810400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr14:20809800-20812200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:20809800-20812400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:20809800-20812600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr14:20809800-20812800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:20809800-20812800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr14:20810000-20810400	Enhancers	Primary B cells from cord blood	blood
13	chr14:20810000-20810400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:20810000-20810400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:20810000-20810400	Flanking Active TSS	Dnd41	blood
16	chr14:20810000-20810400	Enhancers	HSMM	muscle
17	chr14:20810000-20810600	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr14:20810000-20810600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:20810000-20810600	Flanking Active TSS	HUVEC	blood vessel
20	chr14:20810000-20811000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr14:20810000-20811000	Active TSS	A549	lung
22	chr14:20810000-20811800	Active TSS	Fetal Brain Female	brain
23	chr14:20810000-20812000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr14:20810000-20812200	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr14:20810000-20812200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:20810000-20812200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:20810000-20812200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:20810000-20812200	Active TSS	Brain Anterior Caudate	brain
29	chr14:20810000-20812400	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr14:20810000-20812400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:20810000-20812600	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr14:20810000-20812600	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr14:20810000-20812600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:20810000-20812600	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr14:20810000-20812600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr14:20810000-20812600	Active TSS	GM12878-XiMat	blood
37	chr14:20810000-20812800	Active TSS	H1 Cell Line	embryonic stem cell
38	chr14:20810000-20812800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:20810000-20812800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:20810000-20812800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:20810000-20812800	Active TSS	HMEC	breast
42	chr14:20810000-20813000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:20810000-20813000	Active TSS	Brain Germinal Matrix	brain
44	chr14:20810200-20810400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr14:20810200-20810400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr14:20810200-20810400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr14:20810200-20810400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr14:20810200-20810400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:20810200-20810400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr14:20810200-20810400	Weak transcription	Placenta Amnion	Placenta Amnion

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