Variant report

Variant	rs542420918
Chromosome Location	chr4:56265494-56265495
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr4:56265234-56265532	K562	blood:	n/a	n/a
2	MXI1	chr4:56260947-56266145	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr4:56265265-56265627	GM12878	blood:	n/a	n/a
4	FOS	chr4:56264209-56265894	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr4:56265338-56265545	H1-hESC	embryonic stem cell:	n/a	n/a
6	WRNIP1	chr4:56265342-56265598	GM12878	blood:	n/a	n/a
7	POLR2A	chr4:56265403-56265546	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAFK	chr4:56265472-56265661	K562	blood:	n/a	n/a
9	POLR2A	chr4:56261116-56266115	IMR90	lung:	n/a	n/a
10	POLR2A	chr4:56265393-56265565	GM12878	blood:	n/a	n/a
11	FOS	chr4:56264180-56265531	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr4:56265293-56265599	HepG2	liver:	n/a	n/a
13	CHD1	chr4:56261060-56266047	IMR90	lung:	n/a	n/a
14	POLR2A	chr4:56264045-56265557	PBDE	blood:	n/a	n/a
15	CUX1	chr4:56265404-56265692	K562	blood:	n/a	n/a
16	POLR2A	chr4:56265302-56265599	Hela-S3	cervix:	n/a	n/a
17	STAT3	chr4:56264173-56265531	MCF10A-Er-Src	breast:	n/a	chr4:56264390-56264401 chr4:56264742-56264753
18	POLR2A	chr4:56264249-56265911	K562	blood:	n/a	n/a
19	CCNT2	chr4:56265302-56265538	K562	blood:	n/a	n/a
20	FOS	chr4:56264233-56265510	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr4:56265169-56265791	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr4:56265439-56265724	GM12878	blood:	n/a	n/a
23	POLR2A	chr4:56265315-56265584	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:56261651..56266514-chr4:56267808..56271520,10	MCF-7	breast:
2	chr4:56211148..56230966-chr4:56256626..56269458,54	MCF-7	breast:
3	chr4:56211242..56218739-chr4:56258356..56267013,28	MCF-7	breast:
4	chr4:56211281..56215987-chr4:56257992..56268538,18	K562	blood:
5	chr4:56212672..56213486-chr4:56265314..56266061,2	MCF-7	breast:
6	chr4:56247536..56249762-chr4:56263632..56266279,3	K562	blood:
7	chr4:56206647..56208292-chr4:56265434..56267347,2	MCF-7	breast:
8	chr4:56262170..56264152-chr4:56264363..56265916,3	K562	blood:
9	chr4:56216631..56219493-chr4:56263836..56266245,2	K562	blood:

No data

Variant related genes	Relation type
TMEM165	TF binding region
SRD5A3-AS1	TF binding region
ENSG00000249700	Chromatin interaction
ENSG00000128039	Chromatin interaction
ENSG00000134851	Chromatin interaction
ENSG00000251111	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	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1011722	chr4:56261349-56325600	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv3513387	chr4:56265445-56270643	Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3513386	chr4:56265495-56269293	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3513388	chr4:56265495-56269293	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 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	chr4:56261400-56265600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr4:56261400-56265600	Active TSS	HSMMtube	muscle
3	chr4:56261400-56266000	Active TSS	Right Atrium	heart
4	chr4:56261600-56266000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:56262400-56265600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:56262800-56265600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr4:56262800-56266000	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr4:56263400-56265800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
9	chr4:56263400-56265800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr4:56263400-56265800	Transcr. at gene 5' and 3'	NHEK	skin
11	chr4:56263400-56265800	Transcr. at gene 5' and 3'	Osteobl	bone
12	chr4:56263400-56266000	Transcr. at gene 5' and 3'	K562	blood
13	chr4:56263600-56265600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:56263600-56265800	Enhancers	Fetal Heart	heart
15	chr4:56263600-56266000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:56263600-56266000	Enhancers	Primary B cells from peripheral blood	blood
17	chr4:56263800-56265600	Active TSS	Liver	Liver
18	chr4:56263800-56265800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr4:56263800-56266200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr4:56264200-56265600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:56264200-56265600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr4:56264200-56265600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:56264200-56265800	Transcr. at gene 5' and 3'	NH-A	brain
24	chr4:56264200-56266000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
25	chr4:56264200-56266000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
26	chr4:56264200-56266000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:56264200-56266000	Transcr. at gene 5' and 3'	HUVEC	blood vessel
28	chr4:56264200-56267400	Enhancers	Small Intestine	intestine
29	chr4:56264200-56269800	Weak transcription	Spleen	Spleen
30	chr4:56264200-56270200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:56264200-56273000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:56264400-56265600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:56264400-56265600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:56264400-56265600	Flanking Active TSS	HepG2	liver
35	chr4:56264400-56265800	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr4:56264400-56266000	Genic enhancers	Fetal Intestine Large	intestine
37	chr4:56264600-56265600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:56264600-56265600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
39	chr4:56264600-56266000	Enhancers	Primary hematopoietic stem cells	blood
40	chr4:56264600-56266000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr4:56264600-56266000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr4:56264600-56266000	Active TSS	Brain Cingulate Gyrus	brain
43	chr4:56264600-56266000	Enhancers	Brain Germinal Matrix	brain
44	chr4:56264600-56266000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:56264600-56266000	Enhancers	Fetal Brain Female	brain
46	chr4:56264600-56266200	Genic enhancers	Fetal Muscle Leg	muscle
47	chr4:56264600-56266800	Weak transcription	Placenta	Placenta
48	chr4:56264600-56270000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr4:56264800-56265600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:56264800-56265600	Enhancers	Skeletal Muscle Male	skeletal muscle

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