Variant report

Variant	rs28566137
Chromosome Location	chr4:100846940-100846941
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100840471..100849591-chr4:100866268..100873122,18	K562	blood:

Variant related genes	Relation type
ENSG00000245322	Chromatin interaction
ENSG00000164031	Chromatin interaction
ENSG00000164032	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10001730	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10002820	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10014424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10016741	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10018937	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10461176	0.94[ASN][1000 genomes]
rs1365494	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17029575	0.82[ASN][1000 genomes]
rs17029577	0.82[ASN][1000 genomes]
rs17029592	0.82[ASN][1000 genomes]
rs17029594	0.86[ASN][1000 genomes]
rs17029601	0.89[AFR][1000 genomes]
rs17029606	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17029641	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17029667	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17029681	0.93[ASN][1000 genomes]
rs17029696	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17029698	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17029717	0.89[ASN][1000 genomes]
rs2282587	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2298734	0.98[ASN][1000 genomes]
rs28375729	0.98[ASN][1000 genomes]
rs28445732	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28497573	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28553972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28561548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28604943	1.00[ASN][1000 genomes]
rs28635099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2866175	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs28705829	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs28709045	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28824275	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28893880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737485	0.82[ASN][1000 genomes]
rs3775510	0.94[ASN][1000 genomes]
rs4463078	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56996205	0.80[ASN][1000 genomes]
rs57001633	0.80[ASN][1000 genomes]
rs57238114	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs57862852	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs58512740	0.82[ASN][1000 genomes]
rs59439986	0.86[ASN][1000 genomes]
rs59768994	1.00[ASN][1000 genomes]
rs60203069	1.00[ASN][1000 genomes]
rs60584294	0.82[ASN][1000 genomes]
rs60899666	0.82[ASN][1000 genomes]
rs60994806	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs61229555	0.93[ASN][1000 genomes]
rs62305048	1.00[AFR][1000 genomes];0.97[ASN][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	nsv879661	chr4:100805207-100869635	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100816000-100867000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:100816000-100867000	Weak transcription	Lung	lung
3	chr4:100816200-100851400	Weak transcription	A549	lung
4	chr4:100816200-100851600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:100816200-100853600	Weak transcription	NHLF	lung
6	chr4:100816200-100866200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:100820000-100866200	Weak transcription	Fetal Heart	heart
8	chr4:100824000-100865800	Weak transcription	Psoas Muscle	Psoas
9	chr4:100824400-100847000	Weak transcription	Brain Angular Gyrus	brain
10	chr4:100824400-100866000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:100824800-100854200	Weak transcription	Brain Anterior Caudate	brain
12	chr4:100827600-100856400	Weak transcription	Brain Substantia Nigra	brain
13	chr4:100828800-100866200	Weak transcription	Stomach Mucosa	stomach
14	chr4:100829200-100856400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:100829200-100866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:100829400-100852600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:100829400-100856200	Weak transcription	HepG2	liver
18	chr4:100829600-100866200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:100836600-100856800	Weak transcription	Spleen	Spleen
20	chr4:100836800-100847400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:100836800-100851800	Strong transcription	Dnd41	blood
22	chr4:100837600-100852600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:100838200-100850200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr4:100838400-100847800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:100838400-100847800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:100838400-100850000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:100838400-100852000	Strong transcription	Fetal Thymus	thymus
28	chr4:100839000-100852200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:100839200-100855600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:100839200-100857400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:100840000-100847000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:100840000-100852800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr4:100840000-100862600	Weak transcription	K562	blood
34	chr4:100840200-100847200	Weak transcription	HMEC	breast
35	chr4:100840200-100848400	Strong transcription	Primary B cells from peripheral blood	blood
36	chr4:100840200-100854000	Weak transcription	Brain Germinal Matrix	brain
37	chr4:100840200-100864600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:100840200-100865800	Weak transcription	Ovary	ovary
39	chr4:100840200-100866000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:100840200-100867000	Weak transcription	Gastric	stomach
41	chr4:100840400-100847200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr4:100840400-100847400	Weak transcription	HSMMtube	muscle
43	chr4:100840400-100848800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:100840400-100850000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:100840400-100850400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:100840400-100851000	Weak transcription	Fetal Brain Male	brain
47	chr4:100840400-100851400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr4:100840400-100851600	Weak transcription	Fetal Brain Female	brain
49	chr4:100840400-100852400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:100840400-100855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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