Variant report

Variant	rs28364834
Chromosome Location	chr14:39573232-39573233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr14:39571279-39573448	HepG2	liver:	n/a	n/a
2	HEY1	chr14:39571434-39573445	HepG2	liver:	n/a	n/a
3	TEAD4	chr14:39571287-39573436	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:39573225-39573474	ProgFib	skin:	n/a	n/a
5	MAFK	chr14:39572326-39573324	HepG2	liver:	n/a	n/a
6	MTA3	chr14:39572038-39573282	GM12878	blood:	n/a	n/a
7	MAFF	chr14:39572303-39573274	HepG2	liver:	n/a	n/a
8	MYBL2	chr14:39570718-39573407	HepG2	liver:	n/a	n/a
9	NFIC	chr14:39571324-39573375	HepG2	liver:	n/a	n/a
10	MAZ	chr14:39571354-39573460	IMR90	lung:	n/a	n/a
11	MBD4	chr14:39571281-39573292	HepG2	liver:	n/a	n/a
12	POLR2A	chr14:39571364-39573446	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:39573191-39573269	K562	blood:	n/a	n/a
14	POLR2A	chr14:39572183-39573443	HepG2	liver:	n/a	n/a
15	HCFC1	chr14:39571467-39573294	Hela-S3	cervix:	n/a	n/a
16	FOXA1	chr14:39571501-39573256	HepG2	liver:	n/a	n/a
17	POLR2A	chr14:39571528-39573398	GM12891	blood:	n/a	n/a
18	POLR2A	chr14:39571443-39573390	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAFK	chr14:39572442-39573309	IMR90	lung:	n/a	n/a
20	MAFK	chr14:39572317-39573254	Hela-S3	cervix:	n/a	n/a
21	TBP	chr14:39573186-39573464	K562	blood:	n/a	n/a
22	ARID3A	chr14:39571463-39573232	HepG2	liver:	n/a	n/a
23	RFX5	chr14:39573177-39573265	GM12878	blood:	n/a	n/a
24	MBD4	chr14:39571325-39573324	HepG2	liver:	n/a	n/a
25	POLR2A	chr14:39571075-39574433	HepG2	liver:	n/a	n/a
26	NFIC	chr14:39571378-39573322	HepG2	liver:	n/a	n/a
27	MAFK	chr14:39573088-39573302	HepG2	liver:	n/a	n/a
28	HEY1	chr14:39571381-39573400	HepG2	liver:	n/a	n/a
29	POLR2A	chr14:39571511-39573411	IMR90	lung:	n/a	n/a
30	POLR2A	chr14:39571541-39573375	HepG2	liver:	n/a	n/a
31	POLR2A	chr14:39571432-39573398	HepG2	liver:	n/a	n/a
32	POLR2A	chr14:39572111-39573375	GM12878	blood:	n/a	n/a
33	POLR2A	chr14:39571383-39573308	HepG2	liver:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39572245..39573793-chr14:39838003..39840919,2	MCF-7	breast:
2	chr14:39570644..39573336-chr14:39733309..39737125,4	MCF-7	breast:
3	chr14:39572117..39574614-chr14:39901062..39903055,2	MCF-7	breast:
4	chr12:31012012..31014998-chr14:39572460..39574108,2	MCF-7	breast:
5	chr14:39570348..39574070-chr14:39637691..39640941,4	MCF-7	breast:
6	chr14:39571162..39573957-chr14:39700069..39703541,3	MCF-7	breast:
7	chr14:39572251..39574864-chr14:39637876..39641106,3	MCF-7	breast:
8	chr14:39569997..39574883-chr14:39575393..39578347,7	MCF-7	breast:
9	chr14:39572264..39573816-chr14:39900834..39903460,2	MCF-7	breast:
10	chr14:39570753..39574803-chr14:39575206..39579488,6	K562	blood:
11	chr14:39570993..39573887-chr14:39839322..39841759,2	MCF-7	breast:
12	chr14:39571044..39574449-chr14:39575206..39581914,9	K562	blood:
13	chr14:39572308..39574521-chr14:39576459..39578520,2	MCF-7	breast:

No data

Variant related genes	Relation type
SEC23A	TF binding region
ENSG00000258591	TF binding region
ENSG00000150526	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000258118	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000271424	Chromatin interaction
ENSG00000258591	Chromatin interaction
ENSG00000100934	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000182400	Chromatin interaction
ENSG00000165355	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs12882909	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12883114	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12891260	0.89[ASN][1000 genomes]
rs12891438	0.89[ASN][1000 genomes]
rs12896384	0.89[ASN][1000 genomes]
rs12896963	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12897263	0.89[ASN][1000 genomes]
rs12897381	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12897593	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17616347	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17617123	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17617289	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17679493	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1884383	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1884386	0.84[ASN][1000 genomes]
rs1950508	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1980611	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1980612	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1980613	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2038359	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2038360	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2273315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2415533	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2753596	0.82[ASN][1000 genomes]
rs34328534	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34870044	0.85[ASN][1000 genomes]
rs34896803	0.89[ASN][1000 genomes]
rs34984050	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35006421	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35114880	0.84[ASN][1000 genomes]
rs35270180	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35395604	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35412542	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35502984	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35534904	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35729735	0.89[ASN][1000 genomes]
rs35767652	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36057038	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4555056	0.81[ASN][1000 genomes]
rs55902358	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55993688	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57550673	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59881143	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60085216	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6571887	0.83[ASN][1000 genomes]
rs66488055	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67190795	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67968129	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7140282	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7140321	0.84[ASN][1000 genomes]
rs71407778	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7144730	0.83[ASN][1000 genomes]
rs7145712	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7152392	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs715267	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7157774	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8007028	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8007240	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8008726	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8011244	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8011494	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8017648	0.84[ASN][1000 genomes]
rs8020321	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9743466	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9743749	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39569600-39573400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:39570400-39573400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:39570400-39573400	Active TSS	NH-A	brain
4	chr14:39570600-39573400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:39570800-39573400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:39570800-39573400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr14:39570800-39573400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr14:39571000-39573400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr14:39571000-39573400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:39571000-39573400	Active TSS	Right Atrium	heart
11	chr14:39571000-39573600	Active TSS	NHLF	lung
12	chr14:39571200-39573400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:39571200-39573400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr14:39571200-39573400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr14:39571200-39573400	Active TSS	Colonic Mucosa	Colon
16	chr14:39571200-39573400	Active TSS	Right Ventricle	heart
17	chr14:39571200-39573600	Active TSS	NHDF-Ad	bronchial
18	chr14:39571400-39573400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr14:39571400-39573400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr14:39571400-39573400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr14:39571400-39573400	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr14:39571400-39573400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr14:39571400-39573400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:39571400-39573400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:39571400-39573400	Active TSS	Psoas Muscle	Psoas
26	chr14:39571400-39573600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:39571400-39573600	Active TSS	GM12878-XiMat	blood
28	chr14:39571400-39573600	Active TSS	NHEK	skin
29	chr14:39571600-39573400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr14:39571600-39573400	Active TSS	Pancreas	Pancrea
31	chr14:39571600-39573400	Active TSS	HMEC	breast
32	chr14:39571600-39573600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:39571600-39573600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:39571800-39573400	Active TSS	K562	blood
35	chr14:39572400-39573800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:39572800-39573400	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr14:39572800-39573400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr14:39572800-39573400	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr14:39572800-39573400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:39572800-39573400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr14:39572800-39573400	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr14:39572800-39573400	Flanking Active TSS	Fetal Brain Female	brain
43	chr14:39572800-39573400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr14:39572800-39573400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr14:39572800-39573400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr14:39572800-39573400	Flanking Active TSS	HUVEC	blood vessel
47	chr14:39572800-39573400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr14:39572800-39573600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:39572800-39573600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:39573000-39573400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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