Variant report

Variant	rs3742591
Chromosome Location	chr14:45433155-45433156
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr14:45432916-45433526	Hela-S3	cervix:	n/a	chr14:45433156-45433170
2	GTF2F1	chr14:45432262-45433556	Hela-S3	cervix:	n/a	n/a
3	SMC3	chr14:45433092-45433570	Hela-S3	cervix:	n/a	n/a
4	MAX	chr14:45433017-45433620	HepG2	liver:	n/a	n/a
5	FOXA1	chr14:45432918-45433223	HepG2	liver:	n/a	n/a
6	SIN3A	chr14:45430238-45433575	H1-hESC	embryonic stem cell:	n/a	chr14:45431389-45431398
7	TEAD4	chr14:45432865-45433353	HepG2	liver:	n/a	n/a
8	MXI1	chr14:45433018-45434396	SK-N-SH	brain:	n/a	n/a
9	SIN3AK20	chr14:45430157-45433877	MCF-7	breast:	n/a	n/a
10	HDAC2	chr14:45432993-45433368	HepG2	liver:	n/a	n/a
11	WRNIP1	chr14:45433067-45433543	GM12878	blood:	n/a	n/a
12	MXI1	chr14:45432644-45434078	IMR90	lung:	n/a	n/a
13	POLR2A	chr14:45432984-45433912	GM12878	blood:	n/a	n/a
14	RCOR1	chr14:45432924-45433359	HepG2	liver:	n/a	n/a
15	MAX	chr14:45432931-45433176	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr14:45432852-45433776	MCF-7	breast:	n/a	n/a
17	MAX	chr14:45433131-45433691	Hela-S3	cervix:	n/a	n/a
18	MXI1	chr14:45432883-45433667	HepG2	liver:	n/a	n/a
19	TCF7L2	chr14:45432692-45433781	HEK293	kidney:	n/a	chr14:45433156-45433170
20	POLR2A	chr14:45432901-45433528	HepG2	liver:	n/a	n/a
21	USF2	chr14:45432151-45433692	Hela-S3	cervix:	n/a	chr14:45433505-45433516
22	TCF7L2	chr14:45432922-45433441	PANC-1	pancreas:	n/a	chr14:45433156-45433170
23	FOXA1	chr14:45432800-45433256	HepG2	liver:	n/a	n/a
24	FOXA2	chr14:45432882-45433197	HepG2	liver:	n/a	n/a
25	MAX	chr14:45432866-45433706	NB4	blood:	n/a	n/a
26	CHD1	chr14:45428882-45433567	IMR90	lung:	n/a	n/a
27	MAFK	chr14:45433001-45433255	HepG2	liver:	n/a	n/a
28	TCF7L2	chr14:45432939-45433333	MCF-7	breast:	n/a	chr14:45433156-45433170

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45432779..45434655-chr14:45476453..45478128,2	MCF-7	breast:
2	chr14:45429603..45434764-chr14:45555039..45559274,5	MCF-7	breast:
3	chr14:45427410..45431483-chr14:45431608..45434596,4	MCF-7	breast:
4	chr14:45429271..45433674-chr14:45463003..45467131,6	MCF-7	breast:
5	chr14:45428391..45434782-chr14:45601313..45606393,12	MCF-7	breast:
6	chr14:45431241..45433637-chr14:45553099..45554668,2	MCF-7	breast:
7	chr14:45429455..45434456-chr14:45457577..45465953,9	MCF-7	breast:
8	chr14:45428929..45435608-chr14:45601966..45608462,12	MCF-7	breast:
9	chr14:45432794..45435904-chr14:45437854..45440378,3	K562	blood:

No data

Variant related genes	Relation type
KLHL28	TF binding region
ENSG00000198718	Chromatin interaction
ENSG00000249163	Chromatin interaction
ENSG00000185246	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000179454	Chromatin interaction
ENSG00000212615	Chromatin interaction
ENSG00000100442	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10145267	0.89[ASN][1000 genomes]
rs10483549	0.86[EUR][1000 genomes]
rs17092465	0.85[EUR][1000 genomes]
rs17115611	0.83[EUR][1000 genomes]
rs17115612	0.85[EUR][1000 genomes]
rs17115619	0.85[EUR][1000 genomes]
rs17115633	0.86[EUR][1000 genomes]
rs17115657	0.86[EUR][1000 genomes]
rs2295158	0.90[EUR][1000 genomes]
rs2295160	0.90[EUR][1000 genomes]
rs3783700	0.86[AMR][1000 genomes]
rs3825629	1.00[ASN][1000 genomes]
rs4141578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7145870	0.92[ASN][1000 genomes]
rs7147644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72474137	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72621070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73346336	0.89[ASN][1000 genomes]
rs73346351	1.00[ASN][1000 genomes]
rs73348060	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73348075	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73348285	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73349816	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73349835	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73350007	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73352246	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73353641	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73353647	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73353650	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1045869	chr14:45415597-45487903	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1259	chr14:45419323-45444660	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 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	chr14:45428400-45436600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:45428600-45433200	Active TSS	K562	blood
3	chr14:45428800-45443400	Active TSS	GM12878-XiMat	blood
4	chr14:45429000-45435000	Active TSS	NHLF	lung
5	chr14:45429000-45435200	Active TSS	Fetal Intestine Large	intestine
6	chr14:45429200-45435000	Active TSS	NHDF-Ad	bronchial
7	chr14:45429200-45435200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr14:45429200-45435200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:45429200-45435400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:45429200-45436800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:45429400-45435000	Active TSS	A549	lung
12	chr14:45429400-45435200	Active TSS	Right Atrium	heart
13	chr14:45429600-45433800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:45429600-45434200	Active TSS	Fetal Muscle Trunk	muscle
15	chr14:45429600-45436200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:45429600-45437000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr14:45429600-45437400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr14:45429800-45434200	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr14:45429800-45435400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:45429800-45435400	Active TSS	Right Ventricle	heart
21	chr14:45429800-45436600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr14:45430000-45433200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:45430000-45435000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr14:45430200-45433200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:45430200-45433200	Active TSS	Esophagus	oesophagus
26	chr14:45430200-45433400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:45430200-45436000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:45430400-45433400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:45431600-45437200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:45431800-45433400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr14:45431800-45433600	Flanking Active TSS	Fetal Thymus	thymus
32	chr14:45431800-45433800	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr14:45431800-45433800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr14:45431800-45434000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr14:45431800-45434000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr14:45431800-45435400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:45432000-45433200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:45432000-45433400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:45432000-45433600	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr14:45432000-45433800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr14:45432000-45433800	Flanking Active TSS	Hela-S3	cervix
42	chr14:45432000-45434000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr14:45432000-45434400	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr14:45432000-45434600	Flanking Active TSS	Liver	Liver
45	chr14:45432000-45435400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr14:45432200-45433200	Flanking Bivalent TSS/Enh	HepG2	liver
47	chr14:45432200-45433400	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr14:45432200-45433600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr14:45432200-45433600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr14:45432200-45433600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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