Variant report

Variant	rs73242651
Chromosome Location	chr4:57971707-57971708
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	chr4:57971274-57971714	A549	lung:	n/a	n/a
2	POLR2A	chr4:57970133-57972041	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
IGFBP7-AS1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28656154	0.98[ASN][1000 genomes]
rs73242642	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73242643	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73242644	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73242645	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73242646	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73242647	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73242650	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73242656	0.83[AFR][1000 genomes]
rs73242657	0.83[AFR][1000 genomes]
rs73242659	0.91[AFR][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	chr4:57959800-57973400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:57964000-57973200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:57964200-57972200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:57964600-57973200	Weak transcription	Pancreas	Pancrea
10	chr4:57965600-57972600	Weak transcription	Thymus	Thymus
11	chr4:57966200-57975200	Weak transcription	Lung	lung
12	chr4:57967800-57972600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:57967800-57973200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:57968000-57973000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:57969000-57972000	Genic enhancers	HUVEC	blood vessel
16	chr4:57969400-57971800	Enhancers	A549	lung
17	chr4:57969600-57972000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:57969600-57972000	Enhancers	Rectal Smooth Muscle	rectum
19	chr4:57969600-57972400	Weak transcription	Fetal Thymus	thymus
20	chr4:57969600-57972400	Weak transcription	Ovary	ovary
21	chr4:57969600-57972400	Weak transcription	Spleen	Spleen
22	chr4:57969600-57973200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:57969600-57973200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr4:57969600-57973200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:57969600-57974800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:57969600-57975000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:57969600-57975400	Weak transcription	Colonic Mucosa	Colon
28	chr4:57969800-57972600	Weak transcription	Fetal Heart	heart
29	chr4:57969800-57975400	Weak transcription	Fetal Lung	lung
30	chr4:57970200-57971800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:57970200-57974400	Weak transcription	Fetal Stomach	stomach
32	chr4:57970400-57971800	Enhancers	Brain Hippocampus Middle	brain
33	chr4:57970400-57972000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:57970400-57975600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:57970600-57973200	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:57970800-57972000	Enhancers	Brain Anterior Caudate	brain
37	chr4:57970800-57972000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr4:57970800-57972600	Genic enhancers	HSMMtube	muscle
39	chr4:57970800-57973200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:57970800-57973600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:57971000-57972200	Genic enhancers	NHEK	skin
42	chr4:57971000-57972400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:57971000-57973000	Genic enhancers	Osteobl	bone
44	chr4:57971000-57973400	Enhancers	NHDF-Ad	bronchial
45	chr4:57971000-57973800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:57971200-57971800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr4:57971200-57971800	Strong transcription	HSMM	muscle
48	chr4:57971200-57972000	Genic enhancers	NH-A	brain
49	chr4:57971200-57972000	Enhancers	NHLF	lung
50	chr4:57971200-57972200	Enhancers	Colon Smooth Muscle	Colon

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