Variant report

Variant	rs56029122
Chromosome Location	chr5:112309978-112309979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:112309455-112310081	MCF-7	breast:	n/a	chr5:112309759-112309767
2	MYC	chr5:112309379-112310271	K562	blood:	n/a	n/a
3	ZC3H11A	chr5:112309845-112310010	K562	blood:	n/a	n/a
4	RCOR1	chr5:112309534-112310085	K562	blood:	n/a	n/a
5	JUND	chr5:112309308-112310019	K562	blood:	n/a	n/a
6	GATA3	chr5:112309433-112310126	MCF-7	breast:	n/a	chr5:112309759-112309767
7	NR2F2	chr5:112309361-112310044	K562	blood:	n/a	n/a
8	CEBPD	chr5:112309539-112310018	K562	blood:	n/a	n/a
9	GATA3	chr5:112309435-112310016	T-47D	breast:	n/a	chr5:112309759-112309767
10	MAFF	chr5:112309628-112310072	K562	blood:	n/a	n/a
11	GATA3	chr5:112309511-112309996	T-47D	breast:	n/a	chr5:112309759-112309767
12	GATA2	chr5:112309530-112310027	K562	blood:	n/a	n/a
13	GATA2	chr5:112309555-112310025	K562	blood:	n/a	n/a
14	TAL1	chr5:112309531-112310026	K562	blood:	n/a	n/a
15	TEAD4	chr5:112309427-112310109	K562	blood:	n/a	n/a
16	MAX	chr5:112309558-112310020	K562	blood:	n/a	n/a
17	EP300	chr5:112309550-112310058	K562	blood:	n/a	n/a
18	GATA1	chr5:112309379-112313322	K562	blood:	n/a	n/a
19	UBTF	chr5:112309660-112310112	K562	blood:	n/a	n/a
20	BHLHE40	chr5:112309562-112310034	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112291720..112294004-chr5:112309905..112311791,2	MCF-7	breast:
2	chr5:112308899..112310478-chr5:112310482..112312099,2	MCF-7	breast:
3	chr5:112255914..112262078-chr5:112308752..112315375,16	MCF-7	breast:
4	chr5:112255338..112258184-chr5:112308831..112311561,3	MCF-7	breast:

No data

Variant related genes	Relation type
DCP2	TF binding region
ENSG00000129625	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55948553	1.00[AMR][1000 genomes]
rs60422435	0.93[AFR][1000 genomes]
rs60696542	1.00[AMR][1000 genomes]
rs73781500	0.93[AFR][1000 genomes]
rs73789242	1.00[AMR][1000 genomes]
rs73789268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73789281	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS 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
4	nsv1028759	chr5:112300490-112358514	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112294000-112311800	Weak transcription	Right Atrium	heart
2	chr5:112298200-112311800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:112300200-112311400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:112305600-112311600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:112305600-112311600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:112305600-112311600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:112305600-112311600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:112305600-112311800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:112305600-112312000	Weak transcription	Hela-S3	cervix
10	chr5:112305800-112310400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:112305800-112311400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:112305800-112311600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:112305800-112311600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:112306000-112311000	Weak transcription	HepG2	liver
15	chr5:112306000-112311400	Weak transcription	A549	lung
16	chr5:112306000-112311600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:112306000-112311600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr5:112306000-112311800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:112307200-112311400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:112307200-112311600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:112307200-112311600	Weak transcription	Fetal Kidney	kidney
22	chr5:112307400-112311400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:112307400-112311400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr5:112307800-112311200	Weak transcription	GM12878-XiMat	blood
25	chr5:112307800-112311400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:112307800-112311600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:112308600-112310000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:112308600-112311800	Enhancers	Placenta	Placenta
29	chr5:112309200-112311800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:112309400-112310000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:112309400-112310000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:112309400-112310200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:112309600-112310000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:112309800-112310000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr5:112309800-112310000	Enhancers	Fetal Thymus	thymus
36	chr5:112309800-112310600	Flanking Active TSS	K562	blood
37	chr5:112309800-112311600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr5:112309800-112312000	Weak transcription	Placenta Amnion	Placenta Amnion

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