Variant report

Variant	rs35341163
Chromosome Location	chr4:122759166-122759167
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	chr4:122726600..122728748-chr4:122758977..122760929,2	K562	blood:
2	chr4:122738481..122743178-chr4:122755904..122760615,4	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10001889	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10004284	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10007956	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10013916	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10023020	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10024820	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10024878	0.80[AFR][1000 genomes]
rs10028375	0.85[AFR][1000 genomes]
rs10084948	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1048433	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11098643	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11724322	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11733882	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11734075	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12510839	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13106764	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13108360	0.80[ASN][1000 genomes]
rs13108419	0.90[AFR][1000 genomes]
rs13113421	0.90[AFR][1000 genomes]
rs13117282	0.80[AFR][1000 genomes]
rs13119055	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13121963	0.80[ASN][1000 genomes]
rs13127488	0.80[AFR][1000 genomes]
rs13128434	0.90[AFR][1000 genomes]
rs13130789	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13133876	0.80[ASN][1000 genomes]
rs13140070	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13145213	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13152701	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17005256	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2271176	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28435300	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28522256	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28672860	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3217772	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34445121	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35495505	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3762840	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3811742	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4075065	0.90[AFR][1000 genomes]
rs4075066	0.90[AFR][1000 genomes]
rs4240262	0.90[AFR][1000 genomes]
rs4240263	0.90[AFR][1000 genomes]
rs4240264	0.90[AFR][1000 genomes]
rs4833232	0.90[AFR][1000 genomes]
rs4833233	0.86[ASN][1000 genomes]
rs4833234	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4833235	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4833236	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4833773	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4833775	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs5004355	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67150579	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs67775544	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6811867	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6822155	0.90[AFR][1000 genomes]
rs6830443	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6845901	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7676867	0.85[AFR][1000 genomes]
rs769236	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7699289	0.90[AFR][1000 genomes]
rs951974	0.80[AFR][1000 genomes]
rs966555	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9993206	0.90[AFR][1000 genomes]
rs9995319	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9998785	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9999362	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3413741	chr4:122759137-122759388	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35341163	EXOSC9	Cis_1M	lymphoblastoid	RTeQTL
rs35341163	CCNA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 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	chr4:122745600-122759800	Weak transcription	Fetal Thymus	thymus
6	chr4:122745600-122760400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:122745600-122762000	Weak transcription	Aorta	Aorta
8	chr4:122745600-122764000	Weak transcription	Colonic Mucosa	Colon
9	chr4:122745600-122766200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:122745600-122766600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:122745600-122767200	Weak transcription	Esophagus	oesophagus
12	chr4:122745600-122767200	Weak transcription	Right Ventricle	heart
13	chr4:122745600-122767800	Weak transcription	Pancreas	Pancrea
14	chr4:122745600-122767800	Weak transcription	Thymus	Thymus
15	chr4:122745600-122769200	Weak transcription	Hela-S3	cervix
16	chr4:122745600-122770000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr4:122745600-122781600	Weak transcription	Placenta	Placenta
18	chr4:122745600-122790400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:122745600-122790600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:122745600-122790800	Weak transcription	Psoas Muscle	Psoas
21	chr4:122745800-122759800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:122745800-122761600	Weak transcription	Brain Substantia Nigra	brain
23	chr4:122745800-122764000	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:122745800-122765600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:122745800-122765600	Weak transcription	Fetal Heart	heart
26	chr4:122745800-122766600	Weak transcription	Fetal Brain Male	brain
27	chr4:122745800-122766600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:122745800-122766800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:122745800-122767200	Weak transcription	HSMMtube	muscle
30	chr4:122745800-122767400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:122745800-122768600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:122745800-122770200	Weak transcription	GM12878-XiMat	blood
33	chr4:122745800-122772000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:122745800-122779200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:122745800-122781200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr4:122745800-122786800	Weak transcription	A549	lung
37	chr4:122745800-122790200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:122745800-122790400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:122745800-122790400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:122745800-122790400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:122745800-122790800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr4:122747400-122761000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:122748400-122762800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:122749200-122764600	Weak transcription	NH-A	brain
45	chr4:122749400-122764000	Weak transcription	NHLF	lung
46	chr4:122750200-122773600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:122750600-122762600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:122750600-122763000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:122750800-122770600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:122751000-122764000	Weak transcription	Left Ventricle	heart

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