Variant report

Variant	rs2584352
Chromosome Location	chr4:187533860-187533861
allele	G/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	CEBPB	chr4:187533788-187534015	HepG2	liver:	n/a	chr4:187533925-187533936 chr4:187533879-187533892

Variant related genes	Relation type
FAT1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11944099	1.00[EUR][1000 genomes]
rs11947727	1.00[EUR][1000 genomes]
rs1280101	0.85[AFR][1000 genomes]
rs1280104	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs1296982	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs73015634	1.00[EUR][1000 genomes]
rs73017582	1.00[EUR][1000 genomes]
rs73019654	1.00[EUR][1000 genomes]
rs73019698	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023052	chr4:187244679-187534428	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1016739	chr4:187249894-187534428	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1022113	chr4:187268460-187534065	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1016261	chr4:187332658-187564927	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv537436	chr4:187332658-187564927	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription 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	20 gene(s)	inside rSNPs	diseases
9	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv1015619	chr4:187442453-187595058	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1023800	chr4:187444255-187593799	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187501200-187542400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:187501800-187562200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:187502800-187535200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:187503800-187542600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:187504200-187554600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:187504400-187545200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:187504800-187544000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:187505200-187538800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:187505200-187544400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:187506800-187546000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:187507000-187546200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:187508000-187542800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:187508200-187572600	Weak transcription	Psoas Muscle	Psoas
14	chr4:187508800-187560800	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr4:187509200-187560600	Strong transcription	Fetal Intestine Large	intestine
16	chr4:187509400-187565000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:187509600-187534600	Strong transcription	Adipose Nuclei	Adipose
18	chr4:187512200-187543600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:187512200-187544600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:187512400-187544600	Weak transcription	Hela-S3	cervix
21	chr4:187513000-187545000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:187513400-187542200	Strong transcription	NHLF	lung
23	chr4:187513800-187545000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:187513800-187545600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr4:187513800-187546400	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr4:187514400-187538200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:187515000-187539200	Weak transcription	Stomach Mucosa	stomach
28	chr4:187515000-187542200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:187515400-187545200	Weak transcription	Brain Germinal Matrix	brain
30	chr4:187516000-187535000	Strong transcription	NHDF-Ad	bronchial
31	chr4:187516000-187547400	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr4:187516400-187534600	Strong transcription	Fetal Kidney	kidney
33	chr4:187516800-187534200	Weak transcription	Fetal Brain Female	brain
34	chr4:187516800-187534600	Weak transcription	Brain Angular Gyrus	brain
35	chr4:187517000-187535600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:187519200-187535200	Weak transcription	Spleen	Spleen
37	chr4:187520200-187558200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr4:187520400-187556800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr4:187523800-187545000	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:187524000-187537400	Strong transcription	Fetal Stomach	stomach
41	chr4:187524000-187539400	Strong transcription	Fetal Intestine Small	intestine
42	chr4:187525000-187565800	Weak transcription	Brain Hippocampus Middle	brain
43	chr4:187526000-187545600	Strong transcription	HepG2	liver
44	chr4:187526800-187543800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:187526800-187545200	Strong transcription	Fetal Lung	lung
46	chr4:187527200-187534800	Strong transcription	Colon Smooth Muscle	Colon
47	chr4:187527200-187538200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:187527400-187534000	Weak transcription	Right Ventricle	heart
49	chr4:187527800-187535000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:187528000-187536600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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