Variant report

Variant	rs2282625
Chromosome Location	chr11:57001928-57001929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:56996267..56998926-chr11:57000187..57002136,2	K562	blood:
2	chr11:57000179..57002436-chr11:57003214..57005510,2	K562	blood:
3	chr11:56999799..57002436-chr11:57003214..57005140,3	K562	blood:

Variant related genes	Relation type
ENSG00000134817	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10736681	0.81[ASN][1000 genomes]
rs11228958	0.91[EUR][1000 genomes]
rs11604352	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35783847	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4939115	0.81[ASN][1000 genomes]
rs4939117	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4939118	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56998800-57003400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:56998800-57003400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:56998800-57004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:56998800-57005000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:56999200-57007800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:56999800-57004800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:57000600-57002400	Active TSS	Fetal Stomach	stomach
8	chr11:57000600-57002800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:57001000-57002200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:57001000-57002200	Enhancers	Left Ventricle	heart
11	chr11:57001000-57003000	Enhancers	K562	blood
12	chr11:57001000-57004600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
13	chr11:57001000-57004600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
14	chr11:57001200-57002000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
15	chr11:57001200-57002200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:57001200-57002600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
17	chr11:57001200-57004600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
18	chr11:57001600-57002000	Weak transcription	Spleen	Spleen
19	chr11:57001600-57002200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
20	chr11:57001600-57002800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:57001600-57003600	Active TSS	Fetal Kidney	kidney
22	chr11:57001800-57002000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr11:57001800-57002000	Flanking Active TSS	Placenta	Placenta
24	chr11:57001800-57002200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:57001800-57002200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:57001800-57002400	Enhancers	Right Ventricle	heart
27	chr11:57001800-57002800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:57001800-57002800	Active TSS	Fetal Muscle Leg	muscle

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