Variant report

Variant	rs60482254
Chromosome Location	chr11:9523363-9523364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9482368..9484203-chr11:9521822..9523441,2	K562	blood:

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11042379	0.80[AFR][1000 genomes]
rs12274646	0.80[AFR][1000 genomes]
rs34972213	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56080598	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57050521	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58602953	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59113683	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59158354	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59571955	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404392	1.00[AMR][1000 genomes]
rs73406261	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406268	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406269	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406283	0.89[AFR][1000 genomes]
rs73406286	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406291	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406301	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
3	nsv1039537	chr11:9455387-9535970	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9484600-9544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:9489600-9524000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr11:9489800-9523400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr11:9491400-9525400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:9491400-9551600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:9492000-9527200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:9492200-9525400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:9492800-9527800	Strong transcription	Fetal Stomach	stomach
9	chr11:9495600-9525400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:9496600-9528200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:9499200-9526000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:9501800-9534000	Weak transcription	Psoas Muscle	Psoas
13	chr11:9505200-9525200	Strong transcription	Placenta	Placenta
14	chr11:9506000-9525200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr11:9506800-9525400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:9506800-9525400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:9507000-9523400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr11:9507200-9523400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:9507200-9525400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:9507200-9525400	Strong transcription	Adipose Nuclei	Adipose
21	chr11:9508800-9525000	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:9509200-9523600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:9509200-9525200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:9509200-9525200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:9509200-9525400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:9509200-9525400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:9509200-9525400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:9511400-9524400	Strong transcription	Fetal Muscle Leg	muscle
29	chr11:9511600-9525000	Strong transcription	Ovary	ovary
30	chr11:9511600-9527800	Weak transcription	Hela-S3	cervix
31	chr11:9511600-9528200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:9511600-9528400	Weak transcription	NHLF	lung
33	chr11:9512200-9525200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:9512200-9525400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:9514400-9525400	Strong transcription	Primary T cells from cord blood	blood
36	chr11:9515000-9523400	Strong transcription	Primary B cells from cord blood	blood
37	chr11:9515000-9523400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr11:9515200-9523400	Strong transcription	Colon Smooth Muscle	Colon
39	chr11:9515200-9523400	Strong transcription	Left Ventricle	heart
40	chr11:9515200-9523400	Strong transcription	Dnd41	blood
41	chr11:9515200-9523400	Strong transcription	Osteobl	bone
42	chr11:9515200-9525000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr11:9515400-9523400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:9515400-9523400	Strong transcription	Lung	lung
45	chr11:9515400-9523600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:9515400-9525400	Strong transcription	Fetal Thymus	thymus
47	chr11:9515400-9525800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:9515600-9523400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:9515600-9525200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:9515600-9525400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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