Variant report

Variant	rs4600977
Chromosome Location	chr4:57973413-57973414
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	chr4:57972428-57977904	IMR90	lung:	n/a	n/a
2	POLR2A	chr4:57973165-57974098	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000238541	TF binding region
IGFBP7-AS1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10029224	1.00[AMR][1000 genomes]
rs10029500	1.00[AMR][1000 genomes]
rs4242006	1.00[AMR][1000 genomes]
rs4262036	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4317262	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4326070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4346709	1.00[AMR][1000 genomes]
rs4504318	1.00[AMR][1000 genomes]
rs4515224	1.00[AMR][1000 genomes]
rs4579185	1.00[AMR][1000 genomes]
rs4590105	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4865184	1.00[AMR][1000 genomes]
rs4865185	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4865186	1.00[AMR][1000 genomes]
rs4865190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6554415	1.00[AMR][1000 genomes]
rs6554416	1.00[AMR][1000 genomes]
rs6554417	1.00[AMR][1000 genomes]
rs6810409	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6832133	1.00[AMR][1000 genomes]
rs6839914	1.00[AMR][1000 genomes]
rs6850578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7666436	1.00[AMR][1000 genomes]
rs9992230	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57956800-57974400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:57957000-57974600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:57957200-57975200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:57958200-57975200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr4:57958200-57975400	Weak transcription	Small Intestine	intestine
6	chr4:57966200-57975200	Weak transcription	Lung	lung
7	chr4:57969600-57974800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:57969600-57975000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:57969600-57975400	Weak transcription	Colonic Mucosa	Colon
10	chr4:57969800-57975400	Weak transcription	Fetal Lung	lung
11	chr4:57970200-57974400	Weak transcription	Fetal Stomach	stomach
12	chr4:57970400-57975600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:57970800-57973600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:57971000-57973800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:57971400-57976200	Active TSS	Stomach Smooth Muscle	stomach
16	chr4:57971600-57974400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:57971600-57975000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:57971600-57975200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:57971800-57974200	Weak transcription	A549	lung
20	chr4:57971800-57975000	Weak transcription	HSMM	muscle
21	chr4:57972000-57973800	Weak transcription	Brain Anterior Caudate	brain
22	chr4:57972000-57974400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:57972000-57974400	Weak transcription	NHLF	lung
24	chr4:57972000-57975000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:57972200-57975200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:57972400-57977800	Active TSS	Aorta	Aorta
27	chr4:57973000-57973600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:57973000-57973800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:57973000-57973800	Enhancers	Spleen	Spleen
30	chr4:57973000-57974000	Transcr. at gene 5' and 3'	NH-A	brain
31	chr4:57973000-57974400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
32	chr4:57973000-57974800	Transcr. at gene 5' and 3'	Osteobl	bone
33	chr4:57973200-57973600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:57973200-57973600	Enhancers	Brain Substantia Nigra	brain
35	chr4:57973200-57973600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr4:57973200-57973600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
37	chr4:57973200-57973600	Flanking Active TSS	Ovary	ovary
38	chr4:57973200-57973600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr4:57973200-57973600	Flanking Active TSS	Right Ventricle	heart
40	chr4:57973200-57973800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:57973200-57973800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr4:57973200-57973800	Active TSS	Duodenum Mucosa	Duodenum
43	chr4:57973200-57974000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:57973200-57974200	ZNF genes & repeats	HMEC	breast
45	chr4:57973200-57974600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:57973200-57975400	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr4:57973200-57977000	Active TSS	Fetal Kidney	kidney
48	chr4:57973200-57977600	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr4:57973200-57977600	Active TSS	Psoas Muscle	Psoas
50	chr4:57973200-57977800	Active TSS	Duodenum Smooth Muscle	Duodenum

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