Variant report

Variant	rs8064754
Chromosome Location	chr17:15858669-15858670
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15856750..15859514-chr17:15860824..15862643,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4791655	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4791656	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4791657	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8074681	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
5	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
9	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
10	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv907709	chr17:15851196-15937487	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS 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	28 gene(s)	inside rSNPs	diseases
12	nsv907708	chr17:15851196-15950751	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS 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	30 gene(s)	inside rSNPs	diseases
13	nsv1057493	chr17:15852125-15930718	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv543215	chr17:15852125-15930718	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv907710	chr17:15854257-15950751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv960192	chr17:15856207-15867176	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15849600-15860600	Weak transcription	Pancreas	Pancrea
2	chr17:15850200-15859200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr17:15850200-15860600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:15851000-15859600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr17:15851000-15862200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr17:15851200-15861800	Weak transcription	NHLF	lung
7	chr17:15851200-15869600	Weak transcription	Gastric	stomach
8	chr17:15851400-15859400	Weak transcription	HSMMtube	muscle
9	chr17:15851400-15861800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:15852000-15859400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr17:15852000-15860400	Weak transcription	Lung	lung
12	chr17:15852200-15859200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr17:15852200-15860600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:15852200-15861000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr17:15852200-15861800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr17:15852200-15861800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:15852800-15859200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr17:15853400-15861800	Genic enhancers	NHEK	skin
19	chr17:15854600-15860600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr17:15854800-15861000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr17:15855000-15860000	Weak transcription	Esophagus	oesophagus
22	chr17:15855200-15859600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr17:15855400-15861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:15855800-15859200	Weak transcription	K562	blood
25	chr17:15855800-15859800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr17:15855800-15869800	Weak transcription	Fetal Intestine Small	intestine
27	chr17:15856000-15860800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr17:15856200-15858800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr17:15856400-15859600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr17:15856400-15860400	Weak transcription	Stomach Mucosa	stomach
31	chr17:15856400-15861800	Enhancers	NHDF-Ad	bronchial
32	chr17:15857000-15858800	Enhancers	Osteobl	bone
33	chr17:15857200-15858800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr17:15857200-15858800	Enhancers	Hela-S3	cervix
35	chr17:15857200-15860400	Enhancers	HMEC	breast
36	chr17:15857200-15860600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr17:15857200-15866600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr17:15857400-15859000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr17:15857600-15858800	Enhancers	A549	lung
40	chr17:15857600-15859400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr17:15857800-15858800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr17:15857800-15861800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr17:15858000-15859200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr17:15858000-15861800	Weak transcription	Placenta	Placenta
45	chr17:15858000-15868200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr17:15858200-15859200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr17:15858200-15859400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:15858200-15859400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr17:15858200-15859800	Enhancers	HepG2	liver
50	chr17:15858200-15861800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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