Variant report

Variant	rs7686084
Chromosome Location	chr4:122764725-122764726
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:122745296..122747989-chr4:122762768..122765096,2	K562	blood:
2	chr4:122750402..122752762-chr4:122764492..122767192,2	K562	blood:
3	chr4:122745115..122747989-chr4:122763596..122768679,4	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11098645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098648	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731570	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12502635	0.88[CHB][hapmap]
rs12512876	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12650359	0.89[CHB][hapmap]
rs1396080	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1507994	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1507995	0.91[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17452156	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071486	0.91[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2221628	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3217753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3217771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3217773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3217780	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828485	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3924987	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4077102	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4516739	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56077950	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159666	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56311153	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58649165	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61217486	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6534323	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67772833	0.94[EUR][1000 genomes]
rs6813653	0.81[ASN][1000 genomes]
rs6815790	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6821305	0.90[ASN][1000 genomes]
rs6823818	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824258	0.88[CHB][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs6826506	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6838153	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855269	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72680779	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7660548	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7691955	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs769238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs769246	0.91[EUR][1000 genomes]
rs7699776	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9684587	0.96[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
rs7686084	EXOSC9	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122745400-122767200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:122745400-122777600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:122745400-122790400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:122745400-122790600	Weak transcription	Small Intestine	intestine
5	chr4:122745600-122766200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:122745600-122766600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:122745600-122767200	Weak transcription	Esophagus	oesophagus
8	chr4:122745600-122767200	Weak transcription	Right Ventricle	heart
9	chr4:122745600-122767800	Weak transcription	Pancreas	Pancrea
10	chr4:122745600-122767800	Weak transcription	Thymus	Thymus
11	chr4:122745600-122769200	Weak transcription	Hela-S3	cervix
12	chr4:122745600-122770000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr4:122745600-122781600	Weak transcription	Placenta	Placenta
14	chr4:122745600-122790400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:122745600-122790600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:122745600-122790800	Weak transcription	Psoas Muscle	Psoas
17	chr4:122745800-122765600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr4:122745800-122765600	Weak transcription	Fetal Heart	heart
19	chr4:122745800-122766600	Weak transcription	Fetal Brain Male	brain
20	chr4:122745800-122766600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:122745800-122766800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:122745800-122767200	Weak transcription	HSMMtube	muscle
23	chr4:122745800-122767400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:122745800-122768600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:122745800-122770200	Weak transcription	GM12878-XiMat	blood
26	chr4:122745800-122772000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:122745800-122779200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr4:122745800-122781200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:122745800-122786800	Weak transcription	A549	lung
30	chr4:122745800-122790200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:122745800-122790400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:122745800-122790400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:122745800-122790400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:122745800-122790800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:122750200-122773600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:122750800-122770600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:122751200-122766600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:122751400-122789800	Weak transcription	NHEK	skin
39	chr4:122751400-122790400	Weak transcription	Primary B cells from cord blood	blood
40	chr4:122751600-122770400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:122751600-122790200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:122752000-122767200	Weak transcription	Gastric	stomach
43	chr4:122752400-122770400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr4:122753400-122770400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:122753800-122767400	Weak transcription	Brain Angular Gyrus	brain
46	chr4:122754000-122765600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:122754000-122778200	Weak transcription	Lung	lung
48	chr4:122754600-122767200	Weak transcription	Dnd41	blood
49	chr4:122754600-122790000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr4:122755400-122790800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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