Variant report

Variant	rs151143846
Chromosome Location	chr4:110354418-110354419
allele	C/T
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	HEY1	chr4:110354311-110355195	K562	blood:	n/a	chr4:110354644-110354659 chr4:110354755-110354770 chr4:110354733-110354748 chr4:110354706-110354721 chr4:110354742-110354757
2	MAX	chr4:110354394-110355102	A549	lung:	n/a	chr4:110354792-110354801
3	MXI1	chr4:110353193-110356505	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr4:110354384-110355335	A549	lung:	n/a	n/a
5	MTA3	chr4:110354365-110355007	GM12878	blood:	n/a	n/a
6	MAX	chr4:110354348-110355233	HCT-116	colon:	n/a	chr4:110354792-110354801
7	MYC	chr4:110354376-110355322	MCF10A-Er-Src	breast:	n/a	chr4:110354792-110354801
8	POLR2A	chr4:110353759-110355360	HUVEC	blood vessel:	n/a	n/a
9	POU2F2	chr4:110354386-110355070	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:110353823-110355229	MCF10A-Er-Src	breast:	n/a	n/a
11	YY1	chr4:110354309-110354980	H1-hESC	embryonic stem cell:	n/a	chr4:110354752-110354766 chr4:110354534-110354543 chr4:110354721-110354735
12	PML	chr4:110354225-110355112	K562	blood:	n/a	n/a
13	POLR2A	chr4:110353844-110355373	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr4:110354399-110355043	GM12878	blood:	n/a	n/a
15	CTCF	chr4:110354340-110354490	HCFaa	heart:	n/a	n/a
16	CTCF	chr4:110354311-110354947	K562	blood:	n/a	chr4:110354711-110354724 chr4:110354716-110354732 chr4:110354715-110354733 chr4:110354718-110354731
17	BHLHE40	chr4:110354288-110355032	K562	blood:	n/a	chr4:110354719-110354735 chr4:110354642-110354658 chr4:110354645-110354661
18	CTCF	chr4:110354380-110354530	AG04450	lung:	n/a	n/a
19	TAF1	chr4:110354235-110355220	H1-hESC	embryonic stem cell:	n/a	n/a
20	CBX3	chr4:110354275-110355033	K562	blood:	n/a	n/a
21	POLR2A	chr4:110354380-110355104	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr4:110354360-110355219	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr4:110354154-110355274	GM15510	blood:	n/a	n/a
24	POLR2A	chr4:110354397-110355336	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr4:110354347-110355132	GM12891	blood:	n/a	n/a
26	CTCF	chr4:110354360-110354510	HBMEC	blood vessel:	n/a	n/a
27	ZNF384	chr4:110354056-110354980	K562	blood:	n/a	n/a
28	POLR2A	chr4:110354272-110355343	GM12892	blood:	n/a	n/a
29	POLR2A	chr4:110354381-110355705	K562	blood:	n/a	n/a
30	POLR2A	chr4:110354405-110355137	HL-60	blood:	n/a	n/a
31	MAZ	chr4:110353711-110356050	IMR90	lung:	n/a	chr4:110355382-110355392 chr4:110355379-110355388 chr4:110354792-110354801
32	CTCF	chr4:110354418-110354978	K562	blood:	n/a	chr4:110354711-110354724 chr4:110354716-110354732 chr4:110354715-110354733 chr4:110354718-110354731
33	POLR2A	chr4:110354359-110355244	GM12878	blood:	n/a	n/a
34	POLR2A	chr4:110354396-110355143	GM12892	blood:	n/a	n/a
35	POLR2A	chr4:110354343-110355108	SK-N-MC	brain:	n/a	n/a
36	POLR2A	chr4:110354375-110355792	GM18951	blood:	n/a	n/a
37	TBP	chr4:110354340-110355162	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr4:110354390-110355269	Raji	blood:	n/a	n/a
39	MAX	chr4:110354389-110355148	H1-hESC	embryonic stem cell:	n/a	chr4:110354792-110354801
40	MAX	chr4:110354339-110355265	A549	lung:	n/a	chr4:110354792-110354801
41	POLR2A	chr4:110354214-110355330	PFSK-1	brain:	n/a	n/a
42	PML	chr4:110354301-110355162	GM12878	blood:	n/a	n/a
43	POLR2A	chr4:110353840-110355233	IMR90	lung:	n/a	n/a
44	POLR2A	chr4:110354384-110355487	MCF-7	breast:	n/a	n/a
45	MAX	chr4:110354272-110356028	K562	blood:	n/a	chr4:110355382-110355392 chr4:110355379-110355388 chr4:110354792-110354801
46	CTCF	chr4:110354360-110354510	HRPEpiC	eye:	n/a	n/a
47	YY1	chr4:110354410-110355282	HepG2	liver:	n/a	chr4:110354752-110354766 chr4:110354534-110354543 chr4:110354721-110354735
48	POLR2A	chr4:110353925-110355193	HepG2	liver:	n/a	n/a
49	MYC	chr4:110354410-110355233	A549	lung:	n/a	chr4:110354792-110354801
50	POLR2A	chr4:110354339-110355149	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:110351897..110354482-chr4:110431012..110433361,3	MCF-7	breast:
2	chr4:110353826..110356085-chr4:110735938..110738635,3	MCF-7	breast:
3	chr4:110352891..110355275-chr4:110649929..110651520,2	MCF-7	breast:
4	chr4:109540362..109542277-chr4:110353620..110356489,2	K562	blood:
5	chr4:110353269..110354820-chr4:110577196..110580148,2	MCF-7	breast:
6	chr4:110353323..110356452-chr4:110478874..110481567,4	MCF-7	breast:

Variant related genes	Relation type
SEC24B	TF binding region
ENSG00000272795	Chromatin interaction
ENSG00000005059	Chromatin interaction
ENSG00000234492	Chromatin interaction
ENSG00000109534	Chromatin interaction
ENSG00000123739	Chromatin interaction
ENSG00000109475	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv1793428	chr4:110340134-110355591	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1840909	chr4:110350409-110355591	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv3325631	chr4:110354028-110356876	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv3341942	chr4:110354303-110356451	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr4:110353400-110354600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:110353400-110356600	Active TSS	K562	blood
3	chr4:110353600-110354600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr4:110353600-110354600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:110353600-110354600	Flanking Active TSS	HUVEC	blood vessel
6	chr4:110353600-110354600	Flanking Active TSS	Osteobl	bone
7	chr4:110353600-110354800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:110353600-110357000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:110353800-110354600	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr4:110353800-110354600	Flanking Active TSS	GM12878-XiMat	blood
11	chr4:110353800-110356000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:110353800-110356000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:110353800-110356000	Active TSS	Fetal Intestine Large	intestine
14	chr4:110353800-110356400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:110353800-110356400	Active TSS	HSMM	muscle
16	chr4:110353800-110356600	Active TSS	H1 Cell Line	embryonic stem cell
17	chr4:110353800-110356800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:110353800-110357000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:110354000-110354600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr4:110354000-110354600	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr4:110354000-110354600	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr4:110354000-110354600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr4:110354000-110354600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr4:110354000-110354600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr4:110354000-110354600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr4:110354000-110355600	Active TSS	Primary T cells fromperipheralblood	blood
27	chr4:110354000-110355600	Active TSS	Fetal Muscle Trunk	muscle
28	chr4:110354000-110355600	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr4:110354000-110355800	Active TSS	Thymus	Thymus
30	chr4:110354000-110356000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:110354000-110356000	Active TSS	Esophagus	oesophagus
32	chr4:110354000-110356000	Active TSS	Fetal Brain Female	brain
33	chr4:110354000-110356000	Active TSS	Fetal Stomach	stomach
34	chr4:110354000-110356200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:110354000-110356200	Active TSS	H9 Cell Line	embryonic stem cell
36	chr4:110354000-110356200	Bivalent/Poised TSS	HepG2	liver
37	chr4:110354000-110356400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr4:110354000-110356400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:110354000-110356400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:110354000-110356400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:110354000-110356400	Active TSS	Brain Germinal Matrix	brain
42	chr4:110354000-110356400	Active TSS	Right Ventricle	heart
43	chr4:110354000-110356600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:110354000-110356800	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr4:110354000-110356800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:110354000-110356800	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr4:110354000-110356800	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr4:110354000-110356800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:110354000-110356800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:110354000-110356800	Active TSS	Colonic Mucosa	Colon

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