Variant report

Variant	rs34186579
Chromosome Location	chr14:68230188-68230189
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr14:68230109-68230584	HepG2	liver:	n/a	n/a
2	CEBPB	chr14:68230150-68230528	HepG2	liver:	n/a	n/a
3	CEBPB	chr14:68230118-68230549	A549	lung:	n/a	n/a
4	CEBPB	chr14:68230176-68230418	HepG2	liver:	n/a	n/a
5	NR3C1	chr14:68230166-68230411	A549	lung:	n/a	n/a
6	EP300	chr14:68230154-68230443	HepG2	liver:	n/a	n/a
7	CEBPB	chr14:68230080-68230828	MCF-7	breast:	n/a	n/a
8	FOXA1	chr14:68230090-68230493	T-47D	breast:	n/a	n/a
9	CEBPB	chr14:68230046-68230653	MCF-7	breast:	n/a	n/a
10	FOXA1	chr14:68230173-68230451	HepG2	liver:	n/a	n/a
11	STAT3	chr14:68229981-68230529	MCF10A-Er-Src	breast:	n/a	chr14:68230366-68230377
12	CEBPB	chr14:68230169-68230517	A549	lung:	n/a	n/a
13	FOXA1	chr14:68230064-68230573	HepG2	liver:	n/a	n/a
14	GATA3	chr14:68230170-68230530	T-47D	breast:	n/a	n/a
15	MAFK	chr14:68230169-68230543	HepG2	liver:	n/a	n/a
16	MAFK	chr14:68230183-68230543	HepG2	liver:	n/a	n/a
17	FOXA1	chr14:68230037-68230510	HepG2	liver:	n/a	n/a
18	CEBPB	chr14:68230148-68230575	HepG2	liver:	n/a	n/a
19	MAFF	chr14:68230177-68230545	HepG2	liver:	n/a	n/a
20	FOXA1	chr14:68230082-68230532	HepG2	liver:	n/a	n/a
21	JUND	chr14:68230163-68230517	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68229141..68231002-chr14:68234239..68236824,2	MCF-7	breast:
2	chr14:68228502..68230325-chr14:68235170..68236942,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZFYVE26	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12878157	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880908	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12881114	1.00[ASN][1000 genomes]
rs17782871	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34157082	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34612763	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34666247	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35103502	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67583198	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71421388	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7410	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr14:68202800-68230800	Weak transcription	Right Atrium	heart
2	chr14:68206200-68251000	Weak transcription	K562	blood
3	chr14:68211600-68230800	Weak transcription	Stomach Mucosa	stomach
4	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:68213000-68233000	Strong transcription	Primary hematopoietic stem cells	blood
6	chr14:68213000-68233000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:68213000-68280800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:68213200-68243200	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:68213400-68281200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:68213600-68279600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:68213800-68237000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:68213800-68280600	Strong transcription	Liver	Liver
13	chr14:68214000-68232000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:68214000-68258200	Strong transcription	Brain Germinal Matrix	brain
15	chr14:68214600-68232800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr14:68214600-68281000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:68214800-68266800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:68214800-68276200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr14:68214800-68280200	Strong transcription	Fetal Thymus	thymus
20	chr14:68216600-68267200	Strong transcription	Fetal Stomach	stomach
21	chr14:68218600-68236400	Strong transcription	GM12878-XiMat	blood
22	chr14:68220000-68251200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr14:68220200-68232800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr14:68220200-68273000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:68221600-68233800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr14:68222400-68230600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:68223800-68257600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr14:68224200-68244000	Strong transcription	Fetal Muscle Leg	muscle
29	chr14:68224800-68281000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:68225000-68281000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:68225400-68242600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:68226000-68248800	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr14:68226000-68257600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr14:68226200-68230600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr14:68226200-68233000	Strong transcription	Adipose Nuclei	Adipose
36	chr14:68226200-68257600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:68226200-68257600	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr14:68226200-68281000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:68226400-68231000	Strong transcription	Brain Angular Gyrus	brain
40	chr14:68226400-68232800	Strong transcription	Brain Substantia Nigra	brain
41	chr14:68226400-68233000	Strong transcription	Primary B cells from cord blood	blood
42	chr14:68226400-68239200	Strong transcription	HUVEC	blood vessel
43	chr14:68226400-68257600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr14:68226400-68257600	Strong transcription	Brain Anterior Caudate	brain
45	chr14:68226400-68257600	Strong transcription	Brain Cingulate Gyrus	brain
46	chr14:68226400-68257600	Strong transcription	Brain Hippocampus Middle	brain
47	chr14:68226400-68257600	Strong transcription	Fetal Lung	lung
48	chr14:68226400-68257600	Strong transcription	Ovary	ovary
49	chr14:68226400-68257800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:68226400-68257800	Strong transcription	Primary T cells from cord blood	blood

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