Variant report

Variant	rs1660947
Chromosome Location	chr15:57124212-57124213
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	chr15:57118084..57120874-chr15:57123511..57126088,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12904421	1.00[AFR][1000 genomes]
rs1621520	1.00[AFR][1000 genomes]
rs1642934	1.00[AFR][1000 genomes]
rs1647375	1.00[AFR][1000 genomes]
rs1647393	1.00[AFR][1000 genomes]
rs1657931	1.00[AFR][1000 genomes]
rs1660949	1.00[AFR][1000 genomes]
rs169892	1.00[AFR][1000 genomes]
rs2414483	1.00[AFR][1000 genomes]
rs7162654	1.00[AFR][1000 genomes]
rs933765	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv569576	chr15:57012816-57126917	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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:42 , 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	chr15:57114600-57124400	Weak transcription	Fetal Thymus	thymus
4	chr15:57117000-57129000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:57117600-57124400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr15:57122400-57125600	Enhancers	Adipose Nuclei	Adipose
7	chr15:57122600-57128000	Weak transcription	Brain Germinal Matrix	brain
8	chr15:57123000-57125400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:57123200-57125200	Enhancers	Brain Substantia Nigra	brain
10	chr15:57123200-57125800	Enhancers	Brain Cingulate Gyrus	brain
11	chr15:57123400-57124400	Weak transcription	Ovary	ovary
12	chr15:57123600-57125200	Enhancers	Colon Smooth Muscle	Colon
13	chr15:57123800-57124400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:57123800-57124400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr15:57123800-57124400	Enhancers	Stomach Smooth Muscle	stomach
16	chr15:57123800-57124800	Enhancers	NHLF	lung
17	chr15:57123800-57125400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr15:57123800-57125400	Enhancers	Brain Angular Gyrus	brain
19	chr15:57123800-57125400	Enhancers	Brain Hippocampus Middle	brain
20	chr15:57124000-57124400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:57124000-57124800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:57124000-57124800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:57124000-57124800	Enhancers	Fetal Brain Female	brain
24	chr15:57124000-57125200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr15:57124000-57125200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr15:57124000-57125400	Enhancers	Fetal Lung	lung
27	chr15:57124000-57125400	Enhancers	Rectal Smooth Muscle	rectum
28	chr15:57124000-57130600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr15:57124200-57124400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:57124200-57124400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:57124200-57124400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr15:57124200-57124600	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr15:57124200-57124800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:57124200-57124800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr15:57124200-57124800	Flanking Active TSS	A549	lung
36	chr15:57124200-57124800	Active TSS	NHDF-Ad	bronchial
37	chr15:57124200-57124800	Flanking Active TSS	Osteobl	bone
38	chr15:57124200-57125000	Flanking Active TSS	Liver	Liver
39	chr15:57124200-57125000	Enhancers	Fetal Brain Male	brain
40	chr15:57124200-57125200	Enhancers	Fetal Muscle Leg	muscle
41	chr15:57124200-57125200	Enhancers	Stomach Mucosa	stomach
42	chr15:57124200-57125400	Enhancers	Fetal Stomach	stomach

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