Variant report

Variant	rs8068306
Chromosome Location	chr17:15306099-15306100
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	chr17:15305336..15307467-chr17:15334554..15337219,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs7216189	1.00[AMR][1000 genomes]
rs7218367	1.00[AMR][1000 genomes]
rs73285825	1.00[AMR][1000 genomes]
rs8071528	1.00[AMR][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	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv907703	chr17:15199907-15370701	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15302000-15307800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr17:15302400-15306600	Weak transcription	Small Intestine	intestine
3	chr17:15302400-15307000	Weak transcription	Fetal Intestine Small	intestine
4	chr17:15302400-15309200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:15302600-15306200	Weak transcription	Colon Smooth Muscle	Colon
6	chr17:15302600-15306800	Weak transcription	Fetal Lung	lung
7	chr17:15302600-15307400	Weak transcription	Placenta	Placenta
8	chr17:15302600-15307600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr17:15302600-15308200	Weak transcription	Lung	lung
10	chr17:15302600-15309600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:15302800-15306600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr17:15302800-15306600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr17:15302800-15306600	Weak transcription	Right Atrium	heart
14	chr17:15302800-15306800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr17:15302800-15307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:15302800-15309400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr17:15302800-15311600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr17:15302800-15312200	Weak transcription	Brain Substantia Nigra	brain
19	chr17:15302800-15312400	Weak transcription	Brain Hippocampus Middle	brain
20	chr17:15302800-15312800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr17:15303000-15306400	Weak transcription	Fetal Stomach	stomach
22	chr17:15303000-15306600	Weak transcription	Adipose Nuclei	Adipose
23	chr17:15303000-15306600	Weak transcription	Fetal Muscle Leg	muscle
24	chr17:15303000-15306600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr17:15303000-15306600	Weak transcription	HSMM	muscle
26	chr17:15303000-15306800	Weak transcription	Osteobl	bone
27	chr17:15303000-15307200	Weak transcription	Brain Anterior Caudate	brain
28	chr17:15303000-15307200	Weak transcription	HSMMtube	muscle
29	chr17:15303000-15307600	Weak transcription	HepG2	liver
30	chr17:15303000-15309200	Weak transcription	Left Ventricle	heart
31	chr17:15303000-15312400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr17:15303200-15306600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:15303200-15306600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr17:15303200-15306600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:15303200-15306600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:15303200-15306600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr17:15303200-15306600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr17:15303200-15306600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr17:15303200-15307200	Weak transcription	NHLF	lung
40	chr17:15303200-15307400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr17:15303200-15309600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr17:15303800-15306600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:15303800-15306800	Weak transcription	NH-A	brain
44	chr17:15303800-15306800	Weak transcription	NHDF-Ad	bronchial
45	chr17:15304600-15308800	Enhancers	Ovary	ovary
46	chr17:15305600-15306200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr17:15306000-15307200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr17:15306000-15308000	Enhancers	Stomach Smooth Muscle	stomach

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