Variant report

Variant	rs7699776
Chromosome Location	chr4:122753885-122753886
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	chr4:122745006..122746599-chr4:122752412..122755944,3	K562	blood:

Variant related genes	Relation type
ENSG00000145386	Chromatin interaction

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];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098648	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731570	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731917	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12502635	0.88[CHB][hapmap]
rs12512876	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12650359	0.89[CHB][hapmap]
rs1396080	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1507994	0.91[CEU][hapmap];0.84[CHB][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1507995	0.91[CEU][hapmap];0.94[CHB][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17452156	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063165	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071486	0.91[CEU][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2221628	1.00[CEU][hapmap];0.94[CHB][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3217753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3217771	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3217773	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3217780	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828485	0.88[CEU][hapmap];0.94[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3924987	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4077102	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4516739	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56077950	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159666	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56311153	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58649165	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61217486	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6534323	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67772833	0.95[EUR][1000 genomes]
rs6813653	0.81[ASN][1000 genomes]
rs6815790	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6821305	0.90[ASN][1000 genomes]
rs6823818	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824258	0.88[CHB][hapmap];0.80[ASN][1000 genomes]
rs6826506	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6838153	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855269	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72680779	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7660548	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686084	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]
rs7686200	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7691955	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs769238	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs769246	0.92[EUR][1000 genomes]
rs9684587	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
rs7699776	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	chr4:122745400-122767200	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	chr4:122745600-122758000	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:122745600-122758600	Weak transcription	Fetal Kidney	kidney
7	chr4:122745600-122759800	Weak transcription	Fetal Thymus	thymus
8	chr4:122745600-122760400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:122745600-122762000	Weak transcription	Aorta	Aorta
10	chr4:122745600-122764000	Weak transcription	Colonic Mucosa	Colon
11	chr4:122745600-122766200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:122745600-122766600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:122745600-122767200	Weak transcription	Esophagus	oesophagus
14	chr4:122745600-122767200	Weak transcription	Right Ventricle	heart
15	chr4:122745600-122767800	Weak transcription	Pancreas	Pancrea
16	chr4:122745600-122767800	Weak transcription	Thymus	Thymus
17	chr4:122745600-122769200	Weak transcription	Hela-S3	cervix
18	chr4:122745600-122770000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr4:122745600-122781600	Weak transcription	Placenta	Placenta
20	chr4:122745600-122790400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:122745600-122790600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:122745600-122790800	Weak transcription	Psoas Muscle	Psoas
23	chr4:122745800-122754200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:122745800-122754200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:122745800-122754400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:122745800-122754400	Weak transcription	HMEC	breast
27	chr4:122745800-122758000	Weak transcription	Fetal Muscle Leg	muscle
28	chr4:122745800-122758400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:122745800-122758800	Weak transcription	HUVEC	blood vessel
30	chr4:122745800-122759800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:122745800-122761600	Weak transcription	Brain Substantia Nigra	brain
32	chr4:122745800-122764000	Weak transcription	Brain Hippocampus Middle	brain
33	chr4:122745800-122765600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr4:122745800-122765600	Weak transcription	Fetal Heart	heart
35	chr4:122745800-122766600	Weak transcription	Fetal Brain Male	brain
36	chr4:122745800-122766600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:122745800-122766800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:122745800-122767200	Weak transcription	HSMMtube	muscle
39	chr4:122745800-122767400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:122745800-122768600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:122745800-122770200	Weak transcription	GM12878-XiMat	blood
42	chr4:122745800-122772000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr4:122745800-122779200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:122745800-122781200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr4:122745800-122786800	Weak transcription	A549	lung
46	chr4:122745800-122790200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:122745800-122790400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:122745800-122790400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr4:122745800-122790400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr4:122745800-122790800	Weak transcription	Placenta Amnion	Placenta Amnion

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