Variant report

Variant	rs542542794
Chromosome Location	chr4:56265717-56265718
allele	-/TTG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:56260947-56266145	SK-N-SH	brain:	n/a	n/a
2	FOS	chr4:56264209-56265894	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr4:56265530-56265785	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr4:56265697-56265897	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr4:56261116-56266115	IMR90	lung:	n/a	n/a
6	CHD1	chr4:56261060-56266047	IMR90	lung:	n/a	n/a
7	POLR2A	chr4:56264249-56265911	K562	blood:	n/a	n/a
8	POLR2A	chr4:56265169-56265791	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr4:56265439-56265724	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:56265689-56266184	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:10 , 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	chr4:56210761..56214527-chr4:56265668..56271169,8	K562	blood:
6	chr4:56212672..56213486-chr4:56265314..56266061,2	MCF-7	breast:
7	chr4:56247536..56249762-chr4:56263632..56266279,3	K562	blood:
8	chr4:56206647..56208292-chr4:56265434..56267347,2	MCF-7	breast:
9	chr4:56262170..56264152-chr4:56264363..56265916,3	K562	blood:
10	chr4:56216631..56219493-chr4:56263836..56266245,2	K562	blood:

No data

Variant related genes	Relation type
SRD5A3-AS1	TF binding region
TMEM165	TF binding region
ENSG00000134851	Chromatin interaction
ENSG00000128039	Chromatin interaction
ENSG00000251111	Chromatin interaction
ENSG00000249700	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	chr4:56261400-56266000	Active TSS	Right Atrium	heart
2	chr4:56261600-56266000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:56262800-56266000	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr4:56263400-56265800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
5	chr4:56263400-56265800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr4:56263400-56265800	Transcr. at gene 5' and 3'	NHEK	skin
7	chr4:56263400-56265800	Transcr. at gene 5' and 3'	Osteobl	bone
8	chr4:56263400-56266000	Transcr. at gene 5' and 3'	K562	blood
9	chr4:56263600-56265800	Enhancers	Fetal Heart	heart
10	chr4:56263600-56266000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:56263600-56266000	Enhancers	Primary B cells from peripheral blood	blood
12	chr4:56263800-56265800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr4:56263800-56266200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr4:56264200-56265800	Transcr. at gene 5' and 3'	NH-A	brain
15	chr4:56264200-56266000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
16	chr4:56264200-56266000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
17	chr4:56264200-56266000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:56264200-56266000	Transcr. at gene 5' and 3'	HUVEC	blood vessel
19	chr4:56264200-56267400	Enhancers	Small Intestine	intestine
20	chr4:56264200-56269800	Weak transcription	Spleen	Spleen
21	chr4:56264200-56270200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:56264200-56273000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:56264400-56265800	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr4:56264400-56266000	Genic enhancers	Fetal Intestine Large	intestine
25	chr4:56264600-56266000	Enhancers	Primary hematopoietic stem cells	blood
26	chr4:56264600-56266000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr4:56264600-56266000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr4:56264600-56266000	Active TSS	Brain Cingulate Gyrus	brain
29	chr4:56264600-56266000	Enhancers	Brain Germinal Matrix	brain
30	chr4:56264600-56266000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:56264600-56266000	Enhancers	Fetal Brain Female	brain
32	chr4:56264600-56266200	Genic enhancers	Fetal Muscle Leg	muscle
33	chr4:56264600-56266800	Weak transcription	Placenta	Placenta
34	chr4:56264600-56270000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr4:56264800-56265800	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr4:56264800-56265800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:56264800-56266000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr4:56264800-56266000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:56264800-56266000	Enhancers	Rectal Smooth Muscle	rectum
40	chr4:56264800-56266200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr4:56264800-56266400	Enhancers	Ovary	ovary
42	chr4:56264800-56269800	Weak transcription	Fetal Kidney	kidney
43	chr4:56264800-56282200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr4:56264800-56292200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr4:56265000-56265800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:56265000-56265800	Genic enhancers	Primary B cells from cord blood	blood
47	chr4:56265000-56265800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr4:56265000-56265800	Active TSS	Hela-S3	cervix
49	chr4:56265000-56266000	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr4:56265000-56266000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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