Variant report

Variant	rs61748753
Chromosome Location	chr4:57777078-57777079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr4:57776766-57777136	K562	blood:	n/a	n/a
2	RCOR1	chr4:57777006-57777143	K562	blood:	n/a	n/a
3	NR2F2	chr4:57776727-57777205	K562	blood:	n/a	n/a
4	MAZ	chr4:57776775-57777104	K562	blood:	n/a	n/a
5	WRNIP1	chr4:57776794-57777179	GM12878	blood:	n/a	n/a
6	NR2F2	chr4:57776775-57777141	K562	blood:	n/a	n/a
7	JUND	chr4:57776899-57777099	K562	blood:	n/a	n/a
8	TEAD4	chr4:57776836-57777190	K562	blood:	n/a	n/a
9	MAX	chr4:57776712-57777150	K562	blood:	n/a	n/a
10	MYC	chr4:57776845-57777116	K562	blood:	n/a	n/a
11	POLR2A	chr4:57776776-57777080	K562	blood:	n/a	n/a
12	RCOR1	chr4:57776786-57777170	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:57772839..57777394-chr4:57841397..57848240,17	K562	blood:
2	chr4:57772988..57775343-chr4:57776220..57778579,3	MCF-7	breast:
3	chr4:57252189..57254981-chr4:57775973..57777493,2	MCF-7	breast:
4	chr4:57774412..57776864-chr4:57776976..57782053,6	K562	blood:
5	chr4:57771524..57779492-chr4:57841270..57849741,26	K562	blood:

No data

Variant related genes	Relation type
REST	TF binding region
ENSG00000047315	Chromatin interaction
ENSG00000084092	Chromatin interaction
ENSG00000157426	Chromatin interaction
ENSG00000084093	Chromatin interaction
ENSG00000269921	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11573061	1.00[AFR][1000 genomes]
rs11935933	1.00[AFR][1000 genomes]
rs12642813	1.00[AFR][1000 genomes]
rs73242635	1.00[AFR][1000 genomes]
rs73242636	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv822562	chr4:57768655-57779715	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57773600-57777200	Active TSS	Colonic Mucosa	Colon
2	chr4:57773600-57777200	Active TSS	HSMMtube	muscle
3	chr4:57773600-57777200	Active TSS	NH-A	brain
4	chr4:57773800-57777200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:57774600-57777200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr4:57775600-57777400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:57775600-57777400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:57775800-57777600	Enhancers	Brain Angular Gyrus	brain
9	chr4:57775800-57777800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:57775800-57786200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:57776000-57777200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:57776000-57777200	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr4:57776000-57777200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr4:57776000-57777200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr4:57776000-57778000	Enhancers	Stomach Mucosa	stomach
16	chr4:57776000-57778200	Enhancers	Small Intestine	intestine
17	chr4:57776200-57777200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:57776200-57777200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:57776200-57777200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr4:57776200-57777200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr4:57776200-57777200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr4:57776200-57777400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:57776200-57777400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:57776200-57777400	Weak transcription	Placenta	Placenta
25	chr4:57776200-57777600	Enhancers	Liver	Liver
26	chr4:57776200-57777600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr4:57776200-57777800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr4:57776200-57778000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr4:57776200-57778200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:57776200-57778200	Enhancers	Brain Hippocampus Middle	brain
31	chr4:57776200-57778200	Enhancers	Brain Substantia Nigra	brain
32	chr4:57776200-57778200	Enhancers	Colon Smooth Muscle	Colon
33	chr4:57776200-57781200	Enhancers	Adipose Nuclei	Adipose
34	chr4:57776400-57777200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr4:57776400-57777200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr4:57776400-57777200	Enhancers	HUVEC	blood vessel
37	chr4:57776400-57777400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:57776400-57777400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:57776400-57777600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr4:57776400-57777800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr4:57776400-57778200	Enhancers	Primary B cells from peripheral blood	blood
42	chr4:57776400-57778200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr4:57776400-57780800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:57776400-57784000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr4:57776400-57789400	Weak transcription	Right Ventricle	heart
46	chr4:57776600-57777200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr4:57776600-57777200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:57776600-57777200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr4:57776600-57777200	Enhancers	Aorta	Aorta
50	chr4:57776600-57777400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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