Variant report

Variant	rs73847014
Chromosome Location	chr4:128543889-128543890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr4:128543833-128544620	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr4:128543828-128544582	A549	lung:	n/a	n/a
3	POLR2A	chr4:128543829-128544786	HEK293	kidney:	n/a	n/a
4	CTCF	chr4:128543820-128543970	HFF	foreskin:	n/a	n/a
5	POLR2A	chr4:128543751-128545758	SK-N-MC	brain:	n/a	n/a
6	CTBP2	chr4:128543856-128544935	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr4:128543740-128543890	HPAF	blood vessel:	n/a	n/a
8	ZNF263	chr4:128543740-128544894	HEK293-T-REx	kidney:	n/a	chr4:128543976-128543985
9	MAX	chr4:128543876-128544631	HepG2	liver:	n/a	n/a
10	CTCF	chr4:128543816-128544498	A549	lung:	n/a	chr4:128544258-128544267
11	RAD21	chr4:128543804-128544534	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr4:128543715-128544947	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr4:128543885-128544647	H1-hESC	embryonic stem cell:	n/a	chr4:128544322-128544331 chr4:128544031-128544041
14	POLR2A	chr4:128543889-128544324	MCF10A-Er-Src	breast:	n/a	n/a
15	MAX	chr4:128543849-128544672	HepG2	liver:	n/a	n/a
16	MAX	chr4:128543873-128544723	H1-hESC	embryonic stem cell:	n/a	chr4:128544706-128544716
17	CTCF	chr4:128543861-128544507	H1-hESC	embryonic stem cell:	n/a	chr4:128544258-128544267
18	RAD21	chr4:128543855-128544377	ECC-1	luminal epithelium:	n/a	n/a
19	RAD21	chr4:128543886-128544302	SK-N-SH_RA	brain:	n/a	n/a
20	E2F6	chr4:128543827-128544627	A549	lung:	n/a	chr4:128544322-128544331 chr4:128544031-128544041
21	YY1	chr4:128543840-128544590	H1-hESC	embryonic stem cell:	n/a	chr4:128544320-128544334 chr4:128544027-128544036 chr4:128544322-128544331
22	MAX	chr4:128543820-128544623	ECC-1	luminal epithelium:	n/a	n/a
23	CTCF	chr4:128543780-128543930	NHLF	lung:	n/a	n/a
24	ZNF143	chr4:128543860-128544672	H1-hESC	embryonic stem cell:	n/a	chr4:128544500-128544510
25	MAX	chr4:128543773-128544735	A549	lung:	n/a	chr4:128544706-128544716
26	E2F6	chr4:128543812-128544774	H1-hESC	embryonic stem cell:	n/a	chr4:128544322-128544331 chr4:128544031-128544041

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:128543078..128545882-chr4:128552977..128554729,2	MCF-7	breast:

Variant related genes	Relation type
INTU	TF binding region
ENSG00000164066	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55856325	1.00[AMR][1000 genomes]
rs57569721	1.00[AMR][1000 genomes]
rs61002561	1.00[AMR][1000 genomes]
rs6827230	1.00[AMR][1000 genomes]
rs6836676	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847013	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847015	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847016	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847018	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847019	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847020	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847021	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847022	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847023	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847024	1.00[AMR][1000 genomes]
rs73847026	1.00[AMR][1000 genomes]
rs7654838	1.00[AMR][1000 genomes]
rs7655450	1.00[AMR][1000 genomes]
rs7689666	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9942182	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9942183	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1029214	chr4:128292215-128683123	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537247	chr4:128292215-128683123	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv879916	chr4:128422400-128694288	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv879917	chr4:128478408-128841252	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv1800085	chr4:128502675-128557864	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv830056	chr4:128517139-128676557	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv879918	chr4:128543742-128694288	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv879919	chr4:128543742-128697519	Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128543600-128544000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:128543600-128544000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr4:128543600-128544000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:128543600-128544000	Flanking Active TSS	Fetal Brain Female	brain
5	chr4:128543600-128544000	Bivalent Enhancer	Fetal Heart	heart
6	chr4:128543600-128544600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
7	chr4:128543600-128545000	Bivalent Enhancer	Stomach Mucosa	stomach
8	chr4:128543600-128545200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:128543600-128545200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
10	chr4:128543600-128545200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:128543600-128545400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr4:128543600-128545400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:128543600-128545600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr4:128543600-128545600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr4:128543600-128545600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr4:128543600-128545600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr4:128543600-128546000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:128543600-128546400	Active TSS	Brain Anterior Caudate	brain
19	chr4:128543800-128544000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr4:128543800-128544000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:128543800-128544000	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
22	chr4:128543800-128544000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:128543800-128544000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
24	chr4:128543800-128544000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:128543800-128544000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:128543800-128544000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:128543800-128544000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:128543800-128544000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:128543800-128544000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:128543800-128544000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
31	chr4:128543800-128544000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
32	chr4:128543800-128544000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:128543800-128544000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
34	chr4:128543800-128544000	Active TSS	Brain Germinal Matrix	brain
35	chr4:128543800-128544000	Bivalent/Poised TSS	Fetal Brain Male	brain
36	chr4:128543800-128544000	Bivalent Enhancer	Fetal Intestine Large	intestine
37	chr4:128543800-128544000	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
38	chr4:128543800-128544000	Bivalent Enhancer	Fetal Lung	lung
39	chr4:128543800-128544000	Enhancers	Psoas Muscle	Psoas
40	chr4:128543800-128544000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
41	chr4:128543800-128544000	Active TSS	Right Ventricle	heart
42	chr4:128543800-128544000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
43	chr4:128543800-128544000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
44	chr4:128543800-128544000	Bivalent/Poised TSS	NHDF-Ad	bronchial
45	chr4:128543800-128544000	Bivalent/Poised TSS	NHLF	lung
46	chr4:128543800-128544000	Flanking Bivalent TSS/Enh	Osteobl	bone
47	chr4:128543800-128544200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:128543800-128544200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
49	chr4:128543800-128544200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:128543800-128544200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin

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