Variant report

Variant	rs4865186
Chromosome Location	chr4:57974993-57974994
allele	A/G
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	CHD1	chr4:57973519-57977830	IMR90	lung:	n/a	n/a
3	MXI1	chr4:57974888-57977913	IMR90	lung:	n/a	n/a

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

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10029224	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10029500	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11133485	1.00[AFR][1000 genomes]
rs4242006	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4262036	1.00[AMR][1000 genomes]
rs4317262	1.00[AMR][1000 genomes]
rs4326070	1.00[AMR][1000 genomes]
rs4346709	1.00[AMR][1000 genomes]
rs4504318	1.00[AMR][1000 genomes]
rs4515224	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4579185	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4590105	1.00[AMR][1000 genomes]
rs4600977	1.00[AMR][1000 genomes]
rs4865184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4865185	1.00[AMR][1000 genomes]
rs4865190	1.00[AMR][1000 genomes]
rs6554415	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6554416	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6554417	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6810409	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6832133	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6839914	1.00[AMR][1000 genomes]
rs6850578	1.00[AMR][1000 genomes]
rs7666436	1.00[AMR][1000 genomes]
rs9992230	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57957200-57975200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr4:57958200-57975200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr4:57958200-57975400	Weak transcription	Small Intestine	intestine
4	chr4:57966200-57975200	Weak transcription	Lung	lung
5	chr4:57969600-57975000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:57969600-57975400	Weak transcription	Colonic Mucosa	Colon
7	chr4:57969800-57975400	Weak transcription	Fetal Lung	lung
8	chr4:57970400-57975600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:57971400-57976200	Active TSS	Stomach Smooth Muscle	stomach
10	chr4:57971600-57975000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:57971600-57975200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:57971800-57975000	Weak transcription	HSMM	muscle
13	chr4:57972000-57975000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:57972200-57975200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:57972400-57977800	Active TSS	Aorta	Aorta
16	chr4:57973200-57975400	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr4:57973200-57977000	Active TSS	Fetal Kidney	kidney
18	chr4:57973200-57977600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr4:57973200-57977600	Active TSS	Psoas Muscle	Psoas
20	chr4:57973200-57977800	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr4:57973400-57975000	Active TSS	Liver	Liver
22	chr4:57973400-57975000	Weak transcription	NHDF-Ad	bronchial
23	chr4:57973400-57975400	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr4:57973400-57975600	Active TSS	Adipose Nuclei	Adipose
25	chr4:57973400-57976600	Weak transcription	Fetal Heart	heart
26	chr4:57973400-57977200	Active TSS	Brain Hippocampus Middle	brain
27	chr4:57973400-57977600	Active TSS	Left Ventricle	heart
28	chr4:57973600-57975000	Weak transcription	Brain Substantia Nigra	brain
29	chr4:57973600-57975200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:57973600-57975200	Active TSS	Fetal Muscle Leg	muscle
31	chr4:57973600-57975200	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr4:57973600-57977600	Active TSS	Right Ventricle	heart
33	chr4:57973600-57977800	Active TSS	Ovary	ovary
34	chr4:57973600-57977800	Active TSS	Right Atrium	heart
35	chr4:57973800-57975000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr4:57973800-57975400	Active TSS	Fetal Muscle Trunk	muscle
37	chr4:57973800-57975400	Weak transcription	Pancreas	Pancrea
38	chr4:57973800-57975400	Weak transcription	Spleen	Spleen
39	chr4:57973800-57975600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:57973800-57977000	Active TSS	HSMMtube	muscle
41	chr4:57973800-57977400	Active TSS	Brain Anterior Caudate	brain
42	chr4:57974000-57975200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:57974000-57976400	Active TSS	NH-A	brain
44	chr4:57974200-57975800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:57974200-57977000	Active TSS	A549	lung
46	chr4:57974200-57977800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:57974400-57975000	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:57974400-57975200	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr4:57974400-57975400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:57974400-57975400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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