Variant report

Variant	rs12905076
Chromosome Location	chr15:58805243-58805244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58800669..58805424-chr15:58807712..58810883,4	K562	blood:
2	chr15:58797035..58800948-chr15:58803702..58808140,4	K562	blood:
3	chr15:58797460..58800451-chr15:58803881..58805523,2	K562	blood:
4	chr15:58801519..58805506-chr15:58811166..58813986,3	K562	blood:

Variant related genes	Relation type
ENSG00000259476	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12904012	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16940372	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16940388	0.81[AFR][1000 genomes]
rs1979178	0.82[AFR][1000 genomes]
rs34522258	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7163555	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3362898	chr15:58705732-58850860	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1043041	chr15:58744505-58876327	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv569601	chr15:58800766-58866156	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58791400-58809400	Weak transcription	Spleen	Spleen
2	chr15:58798600-58807800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr15:58798600-58813200	Weak transcription	Aorta	Aorta
4	chr15:58798800-58807800	Weak transcription	Primary B cells from cord blood	blood
5	chr15:58798800-58812600	Weak transcription	Left Ventricle	heart
6	chr15:58799000-58806000	Weak transcription	Psoas Muscle	Psoas
7	chr15:58799200-58807200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr15:58799200-58809400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:58799400-58807800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr15:58801000-58806600	Enhancers	HSMMtube	muscle
11	chr15:58802800-58806400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:58803400-58805600	Weak transcription	A549	lung
13	chr15:58803600-58805600	Weak transcription	NHDF-Ad	bronchial
14	chr15:58803600-58805800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:58803600-58807000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:58803600-58811800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr15:58803800-58805400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr15:58803800-58805600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:58803800-58805600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:58803800-58805800	Weak transcription	NHEK	skin
21	chr15:58803800-58807800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:58803800-58812600	Weak transcription	Esophagus	oesophagus
23	chr15:58804000-58816200	Weak transcription	Liver	Liver
24	chr15:58804200-58807800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr15:58804600-58806200	Enhancers	Fetal Muscle Trunk	muscle
26	chr15:58804800-58806200	Enhancers	Fetal Muscle Leg	muscle
27	chr15:58805000-58806000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:58805000-58806400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr15:58805000-58806400	Enhancers	HSMM	muscle
30	chr15:58805000-58807200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr15:58805000-58807200	Enhancers	Fetal Thymus	thymus
32	chr15:58805000-58807800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr15:58805000-58809200	Weak transcription	Placenta	Placenta
34	chr15:58805200-58805400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:58805200-58806400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:58805200-58806600	Enhancers	Skeletal Muscle Female	skeletal muscle

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