Variant report

Variant	rs9893653
Chromosome Location	chr17:18239547-18239548
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	chr17:18238390..18240017-chr17:18241737..18243530,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16961060	1.00[AMR][1000 genomes]
rs28523978	0.83[AMR][1000 genomes]
rs28630807	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4925174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73980863	0.83[AMR][1000 genomes]
rs9897239	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9897954	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9898548	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9904323	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9907277	1.00[AMR][1000 genomes]
rs9907337	0.93[AFR][1000 genomes]
rs9909732	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9911649	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9941377	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
4	nsv833386	chr17:18170261-18332726	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv1057081	chr17:18171516-18256347	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv543247	chr17:18171516-18256347	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1062368	chr17:18180747-18259234	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv833387	chr17:18200081-18378155	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	esv1806346	chr17:18200081-18446384	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	esv1812661	chr17:18200081-18446384	Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	nsv428333	chr17:18200081-18446384	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv427992	chr17:18200081-19192047	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription 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 miRNA target site	100 gene(s)	inside rSNPs	diseases
13	esv2758443	chr17:18234525-18446384	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
14	esv2758677	chr17:18234525-18446384	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
15	esv1829832	chr17:18235992-18405148	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18219400-18266000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:18222400-18266200	Weak transcription	Small Intestine	intestine
3	chr17:18222600-18240800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr17:18222600-18243200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:18223600-18240800	Strong transcription	Fetal Muscle Leg	muscle
6	chr17:18223600-18265400	Strong transcription	Fetal Stomach	stomach
7	chr17:18223800-18240800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:18223800-18253600	Strong transcription	Thymus	Thymus
9	chr17:18224000-18240800	Strong transcription	Dnd41	blood
10	chr17:18224200-18240800	Strong transcription	Fetal Muscle Trunk	muscle
11	chr17:18224200-18253000	Weak transcription	Fetal Heart	heart
12	chr17:18224400-18249400	Weak transcription	K562	blood
13	chr17:18224800-18240600	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr17:18224800-18240800	Strong transcription	Fetal Brain Female	brain
15	chr17:18224800-18241000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr17:18224800-18241000	Strong transcription	Adipose Nuclei	Adipose
17	chr17:18225400-18240800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:18225600-18240400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:18225600-18241600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr17:18225800-18240800	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr17:18225800-18241000	Strong transcription	Brain Hippocampus Middle	brain
22	chr17:18226200-18241000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:18227400-18239800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr17:18227600-18243800	Weak transcription	HUVEC	blood vessel
25	chr17:18227800-18243600	Weak transcription	Stomach Mucosa	stomach
26	chr17:18228200-18265800	Weak transcription	Fetal Brain Male	brain
27	chr17:18228600-18241600	Strong transcription	Fetal Intestine Small	intestine
28	chr17:18228600-18251400	Weak transcription	HSMMtube	muscle
29	chr17:18228600-18266000	Weak transcription	HSMM	muscle
30	chr17:18228800-18249400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr17:18229000-18266000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr17:18229800-18241600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr17:18229800-18243600	Strong transcription	Liver	Liver
34	chr17:18230000-18260000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr17:18230200-18260200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:18230200-18265600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr17:18230400-18243400	Weak transcription	NH-A	brain
38	chr17:18230600-18243000	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr17:18231000-18266000	Weak transcription	Psoas Muscle	Psoas
40	chr17:18231200-18260600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr17:18231400-18240800	Strong transcription	Brain Anterior Caudate	brain
42	chr17:18233800-18240800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr17:18234600-18243800	Weak transcription	Fetal Kidney	kidney
44	chr17:18234600-18249400	Weak transcription	Osteobl	bone
45	chr17:18235400-18241000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr17:18235400-18256600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr17:18235600-18240800	Strong transcription	Fetal Thymus	thymus
48	chr17:18235800-18245800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr17:18235800-18265400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr17:18236000-18242600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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