Variant report

Variant	rs58018957
Chromosome Location	chr4:48550416-48550417
allele	C/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	POLR2A	chr4:48550190-48551611	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48549603..48551495-chr4:48553529..48555735,2	K562	blood:

Variant related genes	Relation type
FRYL	TF binding region
ENSG00000075539	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs56837574	1.00[AFR][1000 genomes]
rs58763365	0.83[AFR][1000 genomes]
rs60553677	0.83[AFR][1000 genomes]
rs60750323	1.00[AFR][1000 genomes]
rs6447653	1.00[AFR][1000 genomes]
rs6811201	0.83[AFR][1000 genomes]
rs6825721	1.00[AFR][1000 genomes]
rs6854313	1.00[AFR][1000 genomes]
rs73814790	1.00[AFR][1000 genomes]
rs73814792	1.00[AFR][1000 genomes]
rs73814793	1.00[AFR][1000 genomes]
rs73814794	1.00[AFR][1000 genomes]
rs73814796	1.00[AFR][1000 genomes]
rs73814797	1.00[AFR][1000 genomes]
rs73815309	1.00[AFR][1000 genomes]
rs73815310	1.00[AFR][1000 genomes]
rs73815313	1.00[AFR][1000 genomes]
rs73815320	0.83[AFR][1000 genomes]
rs73815323	1.00[AFR][1000 genomes]
rs73817830	1.00[AFR][1000 genomes]
rs73817831	1.00[AFR][1000 genomes]
rs73817833	1.00[AFR][1000 genomes]
rs7665696	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48498600-48593000	Strong transcription	Rectal Mucosa Donor 31	rectum
2	chr4:48499000-48578800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:48499000-48589400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr4:48499600-48581400	Strong transcription	Dnd41	blood
5	chr4:48500200-48588800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr4:48501400-48578600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr4:48504400-48575400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:48505200-48575400	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:48507200-48564000	Strong transcription	Fetal Thymus	thymus
10	chr4:48507600-48568600	Strong transcription	Primary T cells from cord blood	blood
11	chr4:48515800-48625000	Weak transcription	Hela-S3	cervix
12	chr4:48519400-48566200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:48522600-48563200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:48525000-48595600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:48525200-48552800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:48528200-48596000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:48533000-48552600	Weak transcription	Aorta	Aorta
18	chr4:48540600-48580400	Strong transcription	Fetal Intestine Large	intestine
19	chr4:48540800-48576000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr4:48541000-48580600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:48541000-48587800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr4:48541200-48553600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:48541200-48560000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:48541200-48566600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr4:48541200-48567000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:48541200-48594000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr4:48541400-48554400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:48541400-48554400	Strong transcription	Brain Hippocampus Middle	brain
29	chr4:48541400-48555800	Strong transcription	Primary B cells from cord blood	blood
30	chr4:48541400-48566200	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:48541400-48581200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr4:48541600-48568800	Strong transcription	Placenta	Placenta
33	chr4:48541600-48581400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:48541800-48554200	Strong transcription	Adipose Nuclei	Adipose
35	chr4:48541800-48579800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr4:48542000-48554400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:48542000-48556200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:48542200-48553800	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:48542400-48554400	Strong transcription	Left Ventricle	heart
40	chr4:48542400-48564000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:48542400-48564000	Strong transcription	Stomach Smooth Muscle	stomach
42	chr4:48542400-48568200	Strong transcription	Brain Substantia Nigra	brain
43	chr4:48542800-48604400	Weak transcription	A549	lung
44	chr4:48544000-48551000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr4:48544400-48560200	Weak transcription	Fetal Heart	heart
46	chr4:48544400-48561000	Weak transcription	Stomach Mucosa	stomach
47	chr4:48544400-48566000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:48545200-48618200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:48545800-48558200	Weak transcription	HepG2	liver
50	chr4:48546000-48571800	Weak transcription	Psoas Muscle	Psoas

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