Variant report

Variant	rs60425436
Chromosome Location	chr17:19583177-19583178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28672208	1.00[AMR][1000 genomes]
rs59733667	1.00[AMR][1000 genomes]
rs59997043	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61420595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7208792	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7215552	1.00[AMR][1000 genomes]
rs7225274	0.94[AFR][1000 genomes]
rs7225451	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8071025	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8073767	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8079509	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8080984	0.80[AFR][1000 genomes];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	nsv428337	chr17:19340045-19585774	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1061408	chr17:19458185-19613357	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv1062485	chr17:19558644-19608008	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv907866	chr17:19582533-19697976	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19567600-19584800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr17:19568600-19606800	Weak transcription	Psoas Muscle	Psoas
3	chr17:19569600-19584000	Weak transcription	Placenta	Placenta
4	chr17:19569800-19591000	Weak transcription	Fetal Brain Male	brain
5	chr17:19574800-19583600	Weak transcription	GM12878-XiMat	blood
6	chr17:19575000-19590200	Weak transcription	Right Ventricle	heart
7	chr17:19575400-19585400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr17:19575600-19584000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr17:19575800-19584600	Weak transcription	HSMM	muscle
10	chr17:19575800-19586600	Weak transcription	Colon Smooth Muscle	Colon
11	chr17:19576000-19584600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr17:19576000-19596200	Weak transcription	Fetal Heart	heart
13	chr17:19576200-19584000	Strong transcription	Fetal Muscle Leg	muscle
14	chr17:19576800-19583200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:19577200-19585200	Strong transcription	Fetal Brain Female	brain
16	chr17:19578400-19583400	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr17:19578400-19585000	Strong transcription	Stomach Smooth Muscle	stomach
18	chr17:19578600-19583200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
19	chr17:19578600-19583400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr17:19578600-19583400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr17:19578600-19583600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr17:19578800-19583200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr17:19578800-19583200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr17:19578800-19585200	Strong transcription	Fetal Stomach	stomach
25	chr17:19579000-19583200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:19579000-19583400	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr17:19579200-19583200	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr17:19579400-19583200	Strong transcription	Fetal Intestine Small	intestine
29	chr17:19579400-19583800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr17:19579600-19583400	Weak transcription	Fetal Lung	lung
31	chr17:19579600-19583400	Strong transcription	Lung	lung
32	chr17:19579800-19583600	ZNF genes & repeats	Brain Anterior Caudate	brain
33	chr17:19579800-19584000	Weak transcription	Primary B cells from cord blood	blood
34	chr17:19580400-19583400	Weak transcription	NHEK	skin
35	chr17:19580400-19584200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr17:19580400-19584800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr17:19580600-19583600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr17:19580600-19583600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr17:19580600-19584000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr17:19580600-19584400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr17:19580600-19585200	Weak transcription	Primary T cells from cord blood	blood
42	chr17:19580600-19586600	Weak transcription	Colonic Mucosa	Colon
43	chr17:19580600-19586600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr17:19580600-19589200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr17:19580800-19585200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
46	chr17:19580800-19586800	Weak transcription	Fetal Intestine Large	intestine
47	chr17:19580800-19589600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:19581000-19584600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr17:19581000-19584800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr17:19581200-19583400	ZNF genes & repeats	Brain Cingulate Gyrus	brain

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