Variant report

Variant	rs17023581
Chromosome Location	chr4:148555860-148555861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148554354..148557729-chr4:148560321..148563884,3	K562	blood:
2	chr4:148550854..148553435-chr4:148554989..148557051,2	K562	blood:

Variant related genes	Relation type
ENSG00000164169	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10024194	0.93[YRI][hapmap];0.85[AMR][1000 genomes]
rs1119887	1.00[MEX][hapmap]
rs11932755	0.85[AMR][1000 genomes]
rs11932883	0.85[AMR][1000 genomes]
rs17023844	1.00[MEX][hapmap]
rs28676674	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34001293	0.85[AMR][1000 genomes]
rs57632432	0.85[AMR][1000 genomes]
rs58012022	0.85[AMR][1000 genomes]
rs58285779	0.85[AMR][1000 genomes]
rs59938265	0.85[AMR][1000 genomes]
rs61312957	0.85[AMR][1000 genomes]
rs61355480	0.85[AMR][1000 genomes]
rs61363583	0.85[AMR][1000 genomes]
rs72945871	0.85[AMR][1000 genomes]
rs72945873	0.85[AMR][1000 genomes]
rs72945877	0.85[AMR][1000 genomes]
rs72945879	0.85[AMR][1000 genomes]
rs72945896	0.85[AMR][1000 genomes]
rs72947812	0.85[AMR][1000 genomes]
rs72947824	0.85[AMR][1000 genomes]
rs72947833	0.85[AMR][1000 genomes]
rs72947849	0.85[AMR][1000 genomes]
rs72947870	0.85[AMR][1000 genomes]
rs72947876	0.85[AMR][1000 genomes]
rs72947892	0.85[AMR][1000 genomes]
rs72949789	0.85[AMR][1000 genomes]
rs72949795	0.85[AMR][1000 genomes]
rs72949796	0.85[AMR][1000 genomes]
rs9993312	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1019205	chr4:148524852-148576265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17023581	ENSG00000164168	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148539400-148576800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:148539800-148557200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:148540800-148561000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:148541400-148563400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:148542200-148564200	Strong transcription	Fetal Thymus	thymus
6	chr4:148542400-148560400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr4:148542400-148562200	Weak transcription	Fetal Brain Male	brain
8	chr4:148542400-148575000	Weak transcription	Small Intestine	intestine
9	chr4:148542400-148576600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:148542600-148557000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:148542600-148565200	Weak transcription	Fetal Heart	heart
12	chr4:148542600-148567400	Weak transcription	Stomach Mucosa	stomach
13	chr4:148543000-148560400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:148543200-148559600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:148543200-148560800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr4:148543600-148559000	Strong transcription	Placenta	Placenta
17	chr4:148543600-148560000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr4:148543800-148558200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:148543800-148558800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr4:148543800-148559000	Strong transcription	Osteobl	bone
21	chr4:148543800-148559800	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr4:148543800-148560000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:148543800-148560200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:148543800-148560200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:148543800-148560400	Strong transcription	HSMM	muscle
26	chr4:148543800-148563800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:148543800-148564200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:148543800-148565400	Strong transcription	Liver	Liver
29	chr4:148544000-148558800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr4:148544000-148560000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr4:148544200-148557000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr4:148544400-148560200	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr4:148544600-148560600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:148545000-148559800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr4:148545600-148558400	Strong transcription	HUVEC	blood vessel
36	chr4:148548400-148599800	Weak transcription	Gastric	stomach
37	chr4:148548600-148604400	Weak transcription	Esophagus	oesophagus
38	chr4:148548800-148556600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:148548800-148562000	Weak transcription	Right Ventricle	heart
40	chr4:148549000-148576400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:148549000-148599800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:148549400-148559800	Strong transcription	Adipose Nuclei	Adipose
43	chr4:148549400-148563400	Strong transcription	Dnd41	blood
44	chr4:148549600-148560200	Strong transcription	Primary hematopoietic stem cells	blood
45	chr4:148550600-148558400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr4:148550600-148558800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr4:148550600-148559000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:148550600-148559000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:148550600-148559400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr4:148551400-148603600	Weak transcription	Hela-S3	cervix

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