Variant report

Variant	rs4593498
Chromosome Location	chr8:10655470-10655471
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10654838..10657527-chr8:10667570..10669417,2	K562	blood:
2	chr8:10655273..10657441-chr8:10673003..10675779,2	MCF-7	breast:
3	chr8:10517902..10518777-chr8:10655034..10655826,2	K562	blood:
4	chr8:10648269..10650512-chr8:10653379..10655643,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10089615	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10094907	0.82[ASN][1000 genomes]
rs10097283	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10097531	0.82[ASN][1000 genomes]
rs10098699	0.84[EUR][1000 genomes]
rs10099021	0.84[ASN][1000 genomes]
rs10099137	0.83[ASN][1000 genomes]
rs10100265	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10105487	0.84[ASN][1000 genomes]
rs10107289	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10109034	0.82[ASN][1000 genomes]
rs10481451	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1073913	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1115866	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1115867	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11250074	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11250076	0.85[EUR][1000 genomes]
rs11250077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11250078	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12056936	0.81[ASN][1000 genomes]
rs12542888	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12550169	0.82[ASN][1000 genomes]
rs12550720	0.82[ASN][1000 genomes]
rs12676417	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12681175	0.85[ASN][1000 genomes]
rs13276026	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1821002	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1897207	0.84[ASN][1000 genomes]
rs1968400	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1968401	0.86[ASN][1000 genomes]
rs2005309	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2005311	0.80[ASN][1000 genomes]
rs2116093	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2116095	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2277130	0.83[EUR][1000 genomes]
rs2409658	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2409663	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2409669	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28570522	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28592638	0.87[ASN][1000 genomes]
rs2898248	0.89[ASN][1000 genomes]
rs2898251	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34653170	0.84[EUR][1000 genomes]
rs35091929	0.82[EUR][1000 genomes]
rs4240669	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4240670	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4321967	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4504595	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4551304	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4840513	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4840516	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4840517	0.86[ASN][1000 genomes]
rs4841441	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4841452	0.82[EUR][1000 genomes]
rs6601521	0.88[ASN][1000 genomes]
rs6601522	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6601523	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6601527	0.86[ASN][1000 genomes]
rs6601529	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6601530	0.81[ASN][1000 genomes]
rs6980805	0.83[EUR][1000 genomes]
rs6984744	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6985218	0.86[ASN][1000 genomes]
rs6989370	0.86[ASN][1000 genomes]
rs6993841	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7002117	0.86[ASN][1000 genomes]
rs7002282	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7018334	0.95[EUR][1000 genomes]
rs718741	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs718742	0.86[ASN][1000 genomes]
rs752446	0.93[ASN][1000 genomes]
rs7813706	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7814142	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7814757	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7820819	0.83[ASN][1000 genomes]
rs7826458	0.83[ASN][1000 genomes]
rs7833945	0.80[EUR][1000 genomes]
rs7834466	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7836833	0.86[ASN][1000 genomes]
rs7838341	0.83[ASN][1000 genomes]
rs891554	0.84[ASN][1000 genomes]
rs891555	0.84[ASN][1000 genomes]
rs891556	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9329231	0.86[ASN][1000 genomes]
rs9969626	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
8	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1024806	chr8:10605438-10662555	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1031709	chr8:10610545-10657726	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv2764105	chr8:10610557-10657726	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
14	nsv429860	chr8:10615990-10685890	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1023085	chr8:10617908-10657584	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv539470	chr8:10617908-10657584	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
18	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
19	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4593498	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10610800-10662000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:10618800-10665200	Weak transcription	Fetal Brain Female	brain
3	chr8:10619200-10656400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:10619400-10661600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:10620000-10669800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:10621200-10662000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:10621400-10656000	Weak transcription	HepG2	liver
8	chr8:10622800-10656000	Weak transcription	A549	lung
9	chr8:10623400-10656800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:10623400-10662600	Weak transcription	Fetal Thymus	thymus
11	chr8:10623400-10662800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:10623400-10665000	Weak transcription	Fetal Intestine Large	intestine
13	chr8:10623600-10667000	Weak transcription	Thymus	Thymus
14	chr8:10623800-10656800	Weak transcription	Gastric	stomach
15	chr8:10635400-10664400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:10635600-10656800	Weak transcription	Ovary	ovary
17	chr8:10640200-10669800	Weak transcription	Aorta	Aorta
18	chr8:10640600-10662800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr8:10641200-10657000	Weak transcription	Psoas Muscle	Psoas
20	chr8:10641200-10665000	Weak transcription	Dnd41	blood
21	chr8:10641400-10662000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr8:10644200-10661400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:10644400-10656800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:10645000-10670000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:10646800-10662800	Weak transcription	GM12878-XiMat	blood
26	chr8:10647000-10674400	Weak transcription	Right Ventricle	heart
27	chr8:10647000-10681200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:10647200-10656000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:10647200-10656800	Weak transcription	Primary B cells from cord blood	blood
30	chr8:10647200-10656800	Weak transcription	NHLF	lung
31	chr8:10647200-10657000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:10647200-10657000	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:10647200-10659400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:10647200-10661800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:10647200-10673600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr8:10647600-10655600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:10647600-10656000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:10647600-10656200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:10647800-10655800	Weak transcription	NH-A	brain
40	chr8:10647800-10656000	Weak transcription	HSMM	muscle
41	chr8:10647800-10657000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr8:10647800-10661600	Weak transcription	Brain Anterior Caudate	brain
43	chr8:10647800-10669800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:10648000-10656800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:10648000-10656800	Weak transcription	Placenta	Placenta
46	chr8:10648000-10656800	Weak transcription	Left Ventricle	heart
47	chr8:10648000-10657000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:10648200-10655800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:10648200-10656800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:10648200-10656800	Weak transcription	Lung	lung

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