Variant report

Variant	rs12101991
Chromosome Location	chr15:57129266-57129267
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	chr15:57115805..57118368-chr15:57128099..57130760,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs28647446	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56764594	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57452003	1.00[EUR][1000 genomes]
rs57498481	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58196676	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59958586	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60268394	1.00[EUR][1000 genomes]
rs7175930	1.00[EUR][1000 genomes]
rs7183661	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409238	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73427621	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73427643	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8039759	1.00[EUR][1000 genomes];1.00[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	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv833020	chr15:57055947-57216068	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv457162	chr15:57083006-57225766	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv569577	chr15:57083006-57225766	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr15:57110000-57138600	Weak transcription	Left Ventricle	heart
2	chr15:57113000-57130400	Weak transcription	Thymus	Thymus
3	chr15:57124000-57130600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr15:57124800-57129400	Weak transcription	NHDF-Ad	bronchial
5	chr15:57124800-57131800	Weak transcription	HMEC	breast
6	chr15:57125400-57140400	Weak transcription	Brain Angular Gyrus	brain
7	chr15:57125400-57141000	Weak transcription	Fetal Lung	lung
8	chr15:57125400-57141000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr15:57127200-57130000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr15:57127600-57129400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:57128000-57129400	Enhancers	Fetal Muscle Leg	muscle
12	chr15:57128000-57131000	Enhancers	Adipose Nuclei	Adipose
13	chr15:57128200-57129400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:57128200-57130200	Enhancers	HSMM	muscle
15	chr15:57128200-57140400	Weak transcription	Brain Anterior Caudate	brain
16	chr15:57128200-57158600	Weak transcription	Ovary	ovary
17	chr15:57128400-57129400	Weak transcription	Primary B cells from cord blood	blood
18	chr15:57128400-57129600	Weak transcription	Brain Germinal Matrix	brain
19	chr15:57128400-57130200	Weak transcription	Fetal Thymus	thymus
20	chr15:57128400-57140000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr15:57128400-57140400	Weak transcription	Right Ventricle	heart
22	chr15:57128600-57131800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:57129000-57129400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:57129000-57129600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:57129000-57130000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr15:57129000-57130000	Enhancers	NH-A	brain
27	chr15:57129000-57130000	Enhancers	Osteobl	bone
28	chr15:57129000-57130200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:57129000-57130400	Enhancers	HSMMtube	muscle
30	chr15:57129000-57131200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:57129000-57132000	Enhancers	Dnd41	blood
32	chr15:57129000-57132200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:57129200-57129400	Enhancers	Fetal Kidney	kidney
34	chr15:57129200-57129800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:57129200-57130200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:57129200-57131800	Enhancers	Primary B cells from peripheral blood	blood

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