Variant report

Variant	rs9992230
Chromosome Location	chr4:57964496-57964497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4346709	1.00[AMR][1000 genomes]
rs4504318	0.86[AFR][1000 genomes];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]
rs4600977	0.92[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	0.92[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	1.00[AMR][1000 genomes]
rs6832133	1.00[AMR][1000 genomes]
rs6839914	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6850578	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7666436	0.86[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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57948400-57965200	Weak transcription	Brain Anterior Caudate	brain
2	chr4:57956400-57965400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:57956800-57974400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr4:57957000-57974600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:57957200-57975200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr4:57957400-57967000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:57958000-57968200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:57958200-57964600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr4:57958200-57965400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:57958200-57967000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:57958200-57975200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr4:57958200-57975400	Weak transcription	Small Intestine	intestine
13	chr4:57958400-57967000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:57958800-57967000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:57959800-57973400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:57960000-57966000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:57960600-57968600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:57961200-57964600	Weak transcription	Ovary	ovary
19	chr4:57961200-57967000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:57961200-57967200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:57961400-57968200	Weak transcription	Brain Substantia Nigra	brain
22	chr4:57961400-57969200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:57961600-57965200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:57961600-57966600	Enhancers	A549	lung
25	chr4:57961800-57964600	Enhancers	Aorta	Aorta
26	chr4:57961800-57968200	Weak transcription	HMEC	breast
27	chr4:57962000-57965000	Genic enhancers	Osteobl	bone
28	chr4:57962200-57964600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr4:57962600-57964600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:57962600-57966000	Enhancers	NHLF	lung
31	chr4:57962600-57966200	Genic enhancers	HUVEC	blood vessel
32	chr4:57962800-57964800	Enhancers	Stomach Smooth Muscle	stomach
33	chr4:57963000-57964800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:57963400-57965400	Enhancers	Fetal Muscle Leg	muscle
35	chr4:57963400-57966000	Enhancers	Rectal Smooth Muscle	rectum
36	chr4:57963600-57965000	Enhancers	Right Atrium	heart
37	chr4:57963800-57965000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr4:57963800-57965200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr4:57963800-57966000	Enhancers	Fetal Stomach	stomach
40	chr4:57963800-57966800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:57963800-57969600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr4:57963800-57969800	Enhancers	Fetal Heart	heart
43	chr4:57963800-57970600	Enhancers	NHDF-Ad	bronchial
44	chr4:57964000-57964600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:57964000-57964600	Strong transcription	NHEK	skin
46	chr4:57964000-57964800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:57964000-57965000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:57964000-57965000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:57964000-57965000	Genic enhancers	Muscle Satellite Cultured Cells	--
50	chr4:57964000-57965000	Enhancers	Skeletal Muscle Female	skeletal muscle

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