Variant report

Variant	rs115119057
Chromosome Location	chr4:53524451-53524452
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	chr4:53523862-53524499	H1-hESC	embryonic stem cell:	n/a	chr4:53524247-53524256 chr4:53524246-53524256 chr4:53524245-53524260 chr4:53524249-53524256 chr4:53524246-53524257 chr4:53524246-53524257
2	MAX	chr4:53523862-53524462	H1-hESC	embryonic stem cell:	n/a	chr4:53524247-53524256 chr4:53524246-53524256 chr4:53524245-53524260 chr4:53524249-53524256 chr4:53524246-53524257 chr4:53524246-53524257
3	POLR2A	chr4:53523867-53524651	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr4:53524340-53524490	AG04449	skin:	n/a	n/a
5	POLR2A	chr4:53523695-53524727	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr4:53523802-53524585	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr4:53524442-53524929	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr4:53523964-53524492	H1-hESC	embryonic stem cell:	n/a	chr4:53524291-53524300
9	TBP	chr4:53523762-53524541	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr4:53523523-53524471	H1-hESC	embryonic stem cell:	n/a	n/a
11	WRNIP1	chr4:53524441-53524925	GM12878	blood:	n/a	n/a
12	MAX	chr4:53523847-53524609	H1-hESC	embryonic stem cell:	n/a	chr4:53524247-53524256 chr4:53524246-53524256 chr4:53524245-53524260 chr4:53524249-53524256 chr4:53524246-53524257 chr4:53524246-53524257
13	TAF1	chr4:53524010-53524474	H1-hESC	embryonic stem cell:	n/a	n/a
14	USF1	chr4:53523994-53524502	H1-hESC	embryonic stem cell:	n/a	n/a
15	MXI1	chr4:53523748-53524657	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTBP2	chr4:53523874-53524645	H1-hESC	embryonic stem cell:	n/a	n/a
17	KAP1	chr4:53523779-53524497	HEK293	kidney:	n/a	n/a
18	MXI1	chr4:53523572-53526602	IMR90	lung:	n/a	n/a
19	CTCF	chr4:53524320-53524470	AG10803	skin:	n/a	n/a
20	POLR2A	chr4:53523837-53524656	H1-hESC	embryonic stem cell:	n/a	n/a
21	SIN3A	chr4:53523707-53526506	H1-hESC	embryonic stem cell:	n/a	chr4:53526089-53526102 chr4:53525406-53525417 chr4:53525373-53525383
22	MYC	chr4:53523822-53524528	H1-hESC	embryonic stem cell:	n/a	chr4:53524247-53524256 chr4:53524246-53524256 chr4:53524245-53524260 chr4:53524249-53524256 chr4:53524246-53524257 chr4:53524246-53524257
23	MAX	chr4:53523905-53524466	ECC-1	luminal epithelium:	n/a	chr4:53524247-53524256 chr4:53524246-53524256 chr4:53524245-53524260 chr4:53524249-53524256 chr4:53524246-53524257 chr4:53524246-53524257
24	POLR2A	chr4:53523759-53526466	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr4:53523614-53524532	H1-hESC	embryonic stem cell:	n/a	n/a
26	E2F6	chr4:53523819-53524671	H1-hESC	embryonic stem cell:	n/a	chr4:53524291-53524300
27	CTCF	chr4:53524360-53524510	HFF	foreskin:	n/a	n/a
28	ZNF143	chr4:53523989-53524724	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:53523849..53530507-chr4:53576531..53584814,17	K562	blood:
2	chr4:53524001..53527558-chr4:53577308..53580194,4	MCF-7	breast:
3	chr4:53519355..53522911-chr4:53523707..53526726,6	MCF-7	breast:
4	chr4:53523914..53526614-chr4:53586643..53588754,3	MCF-7	breast:
5	chr4:53492777..53495734-chr4:53523846..53526517,2	K562	blood:
6	chr4:53523968..53528771-chr4:53576572..53580241,9	MCF-7	breast:
7	chr4:53522789..53525024-chr4:53586830..53589438,2	K562	blood:
8	chr4:53515781..53522890-chr4:53523068..53527068,15	MCF-7	breast:
9	chr4:53522503..53529252-chr4:53576629..53581800,10	K562	blood:

Variant related genes	Relation type
USP46-AS1	TF binding region
USP46	TF binding region
ENSG00000264585	Chromatin interaction
ENSG00000212588	Chromatin interaction
ENSG00000226950	Chromatin interaction
ENSG00000248375	Chromatin interaction
ENSG00000109189	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	nsv594201	chr4:52798624-53732445	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1000931	chr4:53420849-53689319	Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS 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	25 gene(s)	inside rSNPs	diseases
3	nsv537093	chr4:53420849-53689319	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv948860	chr4:53421172-53675549	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription 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	25 gene(s)	inside rSNPs	diseases
5	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv2754049	chr4:53454272-53539672	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv524494	chr4:53459620-53582065	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	esv3344129	chr4:53524220-53527168	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53511600-53524600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:53513800-53524600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:53518600-53525200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:53518800-53524600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:53523000-53527000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:53523600-53524600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:53523600-53524600	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr4:53523600-53524600	Enhancers	Psoas Muscle	Psoas
9	chr4:53523600-53524800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr4:53523600-53524800	Enhancers	Primary B cells from peripheral blood	blood
11	chr4:53523600-53524800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:53523600-53524800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:53523600-53524800	Flanking Active TSS	Right Ventricle	heart
14	chr4:53523600-53524800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr4:53523600-53524800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr4:53523600-53525000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
17	chr4:53523600-53526400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr4:53523800-53524600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr4:53523800-53524600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:53523800-53524600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:53523800-53524600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:53523800-53524600	Flanking Active TSS	Esophagus	oesophagus
23	chr4:53523800-53524600	Flanking Active TSS	Fetal Stomach	stomach
24	chr4:53523800-53524600	Flanking Active TSS	Ovary	ovary
25	chr4:53523800-53524600	Flanking Active TSS	HMEC	breast
26	chr4:53523800-53524800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr4:53523800-53524800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:53523800-53524800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:53523800-53524800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr4:53523800-53524800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:53523800-53524800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:53523800-53524800	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr4:53523800-53524800	Flanking Active TSS	Fetal Brain Female	brain
34	chr4:53523800-53524800	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr4:53523800-53524800	Flanking Active TSS	Left Ventricle	heart
36	chr4:53523800-53525000	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr4:53523800-53525000	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr4:53523800-53525000	Flanking Active TSS	HepG2	liver
39	chr4:53523800-53526200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr4:53523800-53526400	Active TSS	Brain Angular Gyrus	brain
41	chr4:53523800-53526600	Active TSS	H9 Cell Line	embryonic stem cell
42	chr4:53523800-53526600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:53523800-53526600	Active TSS	NHLF	lung
44	chr4:53523800-53526800	Active TSS	NHDF-Ad	bronchial
45	chr4:53523800-53527200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:53524000-53524600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr4:53524000-53524600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:53524000-53524600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:53524000-53524600	Flanking Active TSS	Fetal Heart	heart
50	chr4:53524000-53524600	Enhancers	Placenta Amnion	Placenta Amnion

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