Variant report

Variant	rs9684587
Chromosome Location	chr4:122750450-122750451
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	chr4:122743548..122747768-chr4:122748127..122751699,7	K562	blood:
2	chr4:122750402..122752762-chr4:122764492..122767192,2	K562	blood:

Variant related genes	Relation type
ENSG00000145386	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11098645	0.97[EUR][1000 genomes]
rs11098646	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs11098648	0.97[EUR][1000 genomes]
rs11731570	0.93[EUR][1000 genomes]
rs11731917	0.93[EUR][1000 genomes]
rs12512876	0.93[EUR][1000 genomes]
rs1396080	0.94[EUR][1000 genomes]
rs1507994	0.94[EUR][1000 genomes]
rs1507995	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs17452156	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2063165	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2071486	0.94[EUR][1000 genomes]
rs2221628	0.92[EUR][1000 genomes]
rs3217753	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs3217771	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs3217773	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs3217780	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs3828485	0.93[EUR][1000 genomes]
rs4077102	0.85[EUR][1000 genomes]
rs4516739	0.85[EUR][1000 genomes]
rs56077950	0.93[EUR][1000 genomes]
rs56159666	0.93[EUR][1000 genomes]
rs56311153	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs58649165	0.83[EUR][1000 genomes]
rs61217486	0.83[EUR][1000 genomes]
rs6534323	0.84[EUR][1000 genomes]
rs67772833	0.93[EUR][1000 genomes]
rs6815790	0.83[EUR][1000 genomes]
rs6823818	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6826506	0.85[EUR][1000 genomes]
rs6838153	0.92[EUR][1000 genomes]
rs6855269	0.84[EUR][1000 genomes]
rs72680779	0.91[EUR][1000 genomes]
rs7660548	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7686084	0.96[EUR][1000 genomes]
rs7686200	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7691955	0.85[EUR][1000 genomes]
rs769238	0.97[EUR][1000 genomes]
rs769246	0.89[EUR][1000 genomes]
rs7699776	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9684587	EXOSC9	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122745400-122750600	Weak transcription	Gastric	stomach
2	chr4:122745400-122750600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:122745400-122751200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:122745400-122753200	Weak transcription	Lung	lung
5	chr4:122745400-122767200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:122745400-122777600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:122745400-122790400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:122745400-122790600	Weak transcription	Small Intestine	intestine
9	chr4:122745600-122750600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:122745600-122750600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:122745600-122750600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:122745600-122750600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:122745600-122750600	Weak transcription	Left Ventricle	heart
14	chr4:122745600-122750800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr4:122745600-122751800	Weak transcription	Ovary	ovary
16	chr4:122745600-122758000	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:122745600-122758600	Weak transcription	Fetal Kidney	kidney
18	chr4:122745600-122759800	Weak transcription	Fetal Thymus	thymus
19	chr4:122745600-122760400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:122745600-122762000	Weak transcription	Aorta	Aorta
21	chr4:122745600-122764000	Weak transcription	Colonic Mucosa	Colon
22	chr4:122745600-122766200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:122745600-122766600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:122745600-122767200	Weak transcription	Esophagus	oesophagus
25	chr4:122745600-122767200	Weak transcription	Right Ventricle	heart
26	chr4:122745600-122767800	Weak transcription	Pancreas	Pancrea
27	chr4:122745600-122767800	Weak transcription	Thymus	Thymus
28	chr4:122745600-122769200	Weak transcription	Hela-S3	cervix
29	chr4:122745600-122770000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr4:122745600-122781600	Weak transcription	Placenta	Placenta
31	chr4:122745600-122790400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:122745600-122790600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:122745600-122790800	Weak transcription	Psoas Muscle	Psoas
34	chr4:122745800-122750600	Weak transcription	Primary B cells from cord blood	blood
35	chr4:122745800-122750600	Weak transcription	Primary T cells from cord blood	blood
36	chr4:122745800-122750600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:122745800-122750600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:122745800-122750600	Weak transcription	NHEK	skin
39	chr4:122745800-122750800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:122745800-122750800	Weak transcription	Fetal Intestine Large	intestine
41	chr4:122745800-122750800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr4:122745800-122751200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:122745800-122752400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr4:122745800-122753000	Weak transcription	Brain Angular Gyrus	brain
45	chr4:122745800-122753200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:122745800-122753200	Weak transcription	Liver	Liver
47	chr4:122745800-122753800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr4:122745800-122754200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr4:122745800-122754200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:122745800-122754400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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