Variant report

Variant	rs3093871
Chromosome Location	chr14:20810735-20810736
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:0)
Chromatin interactive
region (count:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:20810654-20812092	K562	blood:	n/a	n/a
2	JUND	chr14:20810435-20812496	SK-N-SH	brain:	n/a	chr14:20811878-20811887 chr14:20811779-20811788
3	YY1	chr14:20810605-20812449	SK-N-SH	brain:	n/a	chr14:20811694-20811713
4	POLR2A	chr14:20810594-20812065	K562	blood:	n/a	n/a
5	RUNX3	chr14:20810492-20812113	GM12878	blood:	n/a	n/a
6	TEAD4	chr14:20810554-20811057	K562	blood:	n/a	chr14:20810872-20810881
7	RELA	chr14:20810668-20812086	GM15510	blood:	n/a	n/a
8	SIN3AK20	chr14:20810481-20812369	MCF-7	breast:	n/a	n/a
9	POLR2A	chr14:20810719-20812309	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:20810533-20812114	ECC-1	luminal epithelium:	n/a	n/a
11	ZBTB7A	chr14:20810617-20810789	HepG2	liver:	n/a	n/a
12	POLR2A	chr14:20810538-20812125	GM19099	blood:	n/a	n/a
13	TAF1	chr14:20810631-20810974	K562	blood:	n/a	n/a
14	ARID3A	chr14:20810633-20810908	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:20810389-20812222	Raji	blood:	n/a	n/a
16	SP1	chr14:20810598-20812151	A549	lung:	n/a	chr14:20811879-20811888
17	HEY1	chr14:20810705-20811087	K562	blood:	n/a	n/a
18	POLR2A	chr14:20810675-20812149	GM12878	blood:	n/a	n/a
19	POLR2A	chr14:20810727-20812339	MCF-7	breast:	n/a	n/a
20	CREB1	chr14:20810528-20812378	HepG2	liver:	n/a	chr14:20811777-20811790
21	TEAD4	chr14:20810422-20812333	HepG2	liver:	n/a	chr14:20810872-20810881
22	MAX	chr14:20810570-20811074	A549	lung:	n/a	n/a
23	TBP	chr14:20810643-20810822	GM12878	blood:	n/a	n/a
24	POLR2A	chr14:20810611-20812146	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr14:20810454-20812089	K562	blood:	n/a	n/a
26	UBTF	chr14:20810398-20812018	K562	blood:	n/a	n/a
27	POLR2A	chr14:20810685-20812252	K562	blood:	n/a	n/a
28	POLR2A	chr14:20810347-20812358	H1-hESC	embryonic stem cell:	n/a	n/a
29	JUND	chr14:20810628-20812263	K562	blood:	n/a	chr14:20811878-20811887 chr14:20811779-20811788
30	REST	chr14:20810402-20812735	H1-neurons	neurons:	n/a	chr14:20810852-20810872
31	TCF7L2	chr14:20810685-20811699	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr14:20810678-20812243	GM12878	blood:	n/a	n/a
33	POLR2A	chr14:20810565-20812062	Hela-S3	cervix:	n/a	n/a
34	GTF3C2	chr14:20810441-20811628	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr14:20810678-20812097	GM18505	blood:	n/a	n/a
36	SIN3A	chr14:20810506-20812341	H1-hESC	embryonic stem cell:	n/a	n/a
37	TCF12	chr14:20810443-20812137	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr14:20810566-20812112	H1-hESC	embryonic stem cell:	n/a	n/a
39	YY1	chr14:20810611-20812054	H1-hESC	embryonic stem cell:	n/a	chr14:20811694-20811713
40	POLR2A	chr14:20810656-20811079	HepG2	liver:	n/a	n/a
41	TAF1	chr14:20810293-20812079	H1-hESC	embryonic stem cell:	n/a	n/a
42	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
43	MAZ	chr14:20810650-20812459	GM12878	blood:	n/a	n/a
44	CHD2	chr14:20810688-20812109	Hela-S3	cervix:	n/a	chr14:20811880-20811890
45	POLR2A	chr14:20810454-20812349	GM12891	blood:	n/a	n/a
46	POLR2A	chr14:20810572-20812037	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr14:20810650-20812047	GM19193	blood:	n/a	n/a
48	POLR2A	chr14:20810640-20812249	HepG2	liver:	n/a	n/a
49	SREBP2	chr14:20810435-20812520	GM12878	blood:	n/a	n/a
50	POLR2A	chr14:20810540-20812155	HL-60	blood:	n/a	n/a

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20809897..20813381-chr14:20823524..20827429,6	MCF-7	breast:
2	chr14:20809943..20813054-chr14:20921915..20924936,4	MCF-7	breast:
3	chr14:20810118..20813648-chr14:20925784..20931556,9	MCF-7	breast:
4	chr14:20809730..20812813-chr14:21079988..21085543,7	MCF-7	breast:
5	chr14:20810709..20813377-chr14:20857493..20860829,3	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	chr14:20810396..20814723-chr14:20817267..20820679,8	MCF-7	breast:
15	chr14:20810314..20812793-chr15:38855404..38857234,2	MCF-7	breast:
16	chr14:20810182..20812934-chr14:20937866..20940179,2	K562	blood:
17	chr14:20792687..20795168-chr14:20809070..20811262,2	K562	blood:
18	chr14:20808270..20815666-chr14:20919802..20926735,19	MCF-7	breast:
19	chr14:20810154..20811667-chr14:24036078..24038023,2	MCF-7	breast:
20	chr14:20810407..20812907-chr14:21075998..21078180,2	K562	blood:
21	chr14:20810149..20812340-chr14:20869686..20872237,4	MCF-7	breast:
22	chr14:20792855..20795465-chr14:20809576..20811625,4	MCF-7	breast:
23	chr14:20810147..20812907-chr14:20836126..20842394,9	MCF-7	breast:
24	chr14:20809950..20813130-chr14:21150094..21153288,8	MCF-7	breast:
25	chr14:20809378..20813101-chr14:20879937..20884504,11	MCF-7	breast:
26	chr14:20809910..20813476-chr14:20877400..20881790,6	MCF-7	breast:
27	chr14:20809810..20811515-chr14:20846784..20849983,4	MCF-7	breast:
28	chr14:20809861..20811431-chr14:20813629..20815213,2	MCF-7	breast:
29	chr14:20809818..20812962-chr14:20928607..20931811,3	K562	blood:
30	chr14:20810085..20811615-chr14:21149711..21153396,3	K562	blood:
31	chr14:20810223..20812919-chr14:20881907..20884862,2	K562	blood:
32	chr14:20809769..20811935-chr14:20871300..20873011,2	MCF-7	breast:
33	chr11:75676550..75678071-chr14:20809872..20811501,5	MCF-7	breast:
34	chr14:20809761..20813005-chr14:20927609..20931720,11	MCF-7	breast:
35	chr14:20789888..20792247-chr14:20810100..20811908,2	MCF-7	breast:

No data

Variant related genes	Relation type
PARP2	TF binding region
ENSG00000254846	Chromatin interaction
ENSG00000258459	Chromatin interaction
ENSG00000164885	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000172575	Chromatin interaction
ENSG00000258818	Chromatin interaction
ENSG00000213983	Chromatin interaction
ENSG00000129566	Chromatin interaction
ENSG00000136319	Chromatin interaction
ENSG00000173464	Chromatin interaction
ENSG00000259171	Chromatin interaction
ENSG00000214274	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000164889	Chromatin interaction
ENSG00000259060	Chromatin interaction
ENSG00000222489	Chromatin interaction
ENSG00000200225	Chromatin interaction
ENSG00000165782	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000239327	Chromatin interaction
ENSG00000238344	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1953550	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2318863	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3093868	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[CEU][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45583431	1.00[AFR][1000 genomes];0.94[AMR][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];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995498	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995500	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995503	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995504	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995508	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995509	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995510	0.89[AMR][1000 genomes]
rs61995513	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995534	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995536	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995537	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995538	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61995540	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61995542	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995544	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995545	1.00[AFR][1000 genomes];0.94[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];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72671250	1.00[AFR][1000 genomes];0.80[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: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	chr14:20809800-20812200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:20809800-20812400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:20809800-20812600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr14:20809800-20812800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:20809800-20812800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr14:20810000-20811000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr14:20810000-20811000	Active TSS	A549	lung
9	chr14:20810000-20811800	Active TSS	Fetal Brain Female	brain
10	chr14:20810000-20812000	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr14:20810000-20812200	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr14:20810000-20812200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:20810000-20812200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:20810000-20812200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:20810000-20812200	Active TSS	Brain Anterior Caudate	brain
16	chr14:20810000-20812400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr14:20810000-20812400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:20810000-20812600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr14:20810000-20812600	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr14:20810000-20812600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:20810000-20812600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr14:20810000-20812600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr14:20810000-20812600	Active TSS	GM12878-XiMat	blood
24	chr14:20810000-20812800	Active TSS	H1 Cell Line	embryonic stem cell
25	chr14:20810000-20812800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:20810000-20812800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:20810000-20812800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:20810000-20812800	Active TSS	HMEC	breast
29	chr14:20810000-20813000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:20810000-20813000	Active TSS	Brain Germinal Matrix	brain
31	chr14:20810200-20810800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr14:20810200-20810800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr14:20810200-20811000	Active TSS	NHDF-Ad	bronchial
34	chr14:20810200-20811200	Active TSS	Fetal Muscle Trunk	muscle
35	chr14:20810200-20812000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr14:20810200-20812000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:20810200-20812000	Active TSS	Liver	Liver
38	chr14:20810200-20812200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:20810200-20812200	Active TSS	Brain Hippocampus Middle	brain
40	chr14:20810200-20812200	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr14:20810200-20812200	Active TSS	Fetal Kidney	kidney
42	chr14:20810200-20812200	Active TSS	Osteobl	bone
43	chr14:20810200-20812400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:20810200-20812400	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr14:20810200-20812400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr14:20810200-20812400	Active TSS	Fetal Intestine Large	intestine
47	chr14:20810200-20812400	Active TSS	Fetal Intestine Small	intestine
48	chr14:20810200-20812400	Active TSS	Fetal Muscle Leg	muscle
49	chr14:20810200-20812400	Active TSS	Placenta	Placenta
50	chr14:20810200-20812400	Active TSS	Fetal Stomach	stomach

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