Variant report

Variant	rs6471478
Chromosome Location	chr8:95733263-95733264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:94752319..94754025-chr8:95731183..95733270,2	K562	blood:
2	chr8:95564818..95567463-chr8:95729750..95733556,7	MCF-7	breast:
3	chr8:95731670..95733358-chr8:95907566..95910332,2	MCF-7	breast:
4	chr8:95728931..95733735-chr8:95735785..95738955,5	K562	blood:
5	chr8:95731040..95733498-chr8:95907170..95908983,2	MCF-7	breast:
6	chr8:95564422..95566417-chr8:95731300..95733624,2	K562	blood:
7	chr8:95730604..95734079-chr8:95734980..95738829,4	K562	blood:
8	chr8:95564422..95566417-chr8:95730460..95733624,3	K562	blood:
9	chr8:95650894..95656484-chr8:95728446..95733482,20	MCF-7	breast:
10	chr8:95650400..95656999-chr8:95729644..95735467,19	MCF-7	breast:
11	chr8:95485981..95488677-chr8:95730553..95733529,2	K562	blood:
12	chr8:95731513..95733267-chr8:95825138..95827545,2	MCF-7	breast:
13	chr8:95730539..95733622-chr8:95834206..95838888,6	K562	blood:
14	chr8:95732129..95734691-chr8:95765341..95767828,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253848	Chromatin interaction
ENSG00000183808	Chromatin interaction
ENSG00000104413	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000261437	Chromatin interaction
ENSG00000197275	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000253704	Chromatin interaction
ENSG00000212998	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000164944	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10091213	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10110080	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1046155	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1046163	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11785	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12386792	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12543234	0.81[ASN][1000 genomes]
rs12543258	0.81[ASN][1000 genomes]
rs12543514	0.83[ASN][1000 genomes]
rs12545296	0.82[ASN][1000 genomes]
rs12545776	0.85[ASN][1000 genomes]
rs12546263	0.85[ASN][1000 genomes]
rs12546282	0.85[ASN][1000 genomes]
rs12548165	0.83[ASN][1000 genomes]
rs12675372	0.82[ASN][1000 genomes]
rs12676890	0.82[ASN][1000 genomes]
rs12676908	0.82[ASN][1000 genomes]
rs12677807	0.82[ASN][1000 genomes]
rs12677830	0.82[ASN][1000 genomes]
rs12678311	0.82[ASN][1000 genomes]
rs12678709	0.82[ASN][1000 genomes]
rs12678729	0.82[ASN][1000 genomes]
rs13248437	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13254184	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13260827	0.92[ASN][1000 genomes]
rs13266255	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13267007	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1365203	0.86[ASN][1000 genomes]
rs15710	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs15726	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2052719	0.81[ASN][1000 genomes]
rs2052720	0.81[ASN][1000 genomes]
rs2052721	0.81[ASN][1000 genomes]
rs2288260	0.85[ASN][1000 genomes]
rs2554396	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2554397	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2722874	0.88[ASN][1000 genomes]
rs2722876	0.88[ASN][1000 genomes]
rs2722883	0.88[ASN][1000 genomes]
rs2722884	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28659779	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34733016	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3864655	0.81[ASN][1000 genomes]
rs4008177	0.85[ASN][1000 genomes]
rs4639480	0.83[ASN][1000 genomes]
rs55890917	0.82[ASN][1000 genomes]
rs57653937	0.85[ASN][1000 genomes]
rs58422141	0.83[ASN][1000 genomes]
rs59515090	0.82[ASN][1000 genomes]
rs59557867	0.86[ASN][1000 genomes]
rs60573557	0.85[ASN][1000 genomes]
rs62523459	0.82[ASN][1000 genomes]
rs6471460	0.85[ASN][1000 genomes]
rs6471461	0.83[ASN][1000 genomes]
rs6471462	0.85[ASN][1000 genomes]
rs6471464	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6471465	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6471466	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6471467	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6471468	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6471470	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6471471	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6471472	0.87[ASN][1000 genomes]
rs6471473	0.85[ASN][1000 genomes]
rs6471474	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6471475	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67900173	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6992360	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7009161	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7010722	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7016360	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7017752	0.85[ASN][1000 genomes]
rs7017996	0.81[ASN][1000 genomes]
rs72676929	0.81[ASN][1000 genomes]
rs72676935	0.82[ASN][1000 genomes]
rs7387164	0.85[ASN][1000 genomes]
rs7388010	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7461991	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7462846	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7464856	0.81[ASN][1000 genomes]
rs7812489	0.85[ASN][1000 genomes]
rs7813107	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7813216	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7813657	0.83[ASN][1000 genomes]
rs7814238	0.83[ASN][1000 genomes]
rs7815719	0.86[ASN][1000 genomes]
rs7816188	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7816645	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7823050	0.93[ASN][1000 genomes]
rs7824332	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7827727	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7829467	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7832022	0.83[ASN][1000 genomes]
rs7832771	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7833299	0.82[ASN][1000 genomes]
rs7833363	0.83[ASN][1000 genomes]
rs7836949	0.83[ASN][1000 genomes]
rs7840284	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7842246	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7842400	0.85[ASN][1000 genomes]
rs7842716	0.85[ASN][1000 genomes]
rs9643347	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9692638	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv611751	chr8:95721435-95742394	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95730600-95733800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr8:95730800-95733600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:95730800-95733800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr8:95731000-95733400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr8:95731000-95733400	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr8:95731000-95733400	Active TSS	GM12878-XiMat	blood
7	chr8:95731000-95733400	Active TSS	HSMM	muscle
8	chr8:95731000-95733600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr8:95731000-95733800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr8:95731000-95733800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:95731000-95734000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:95731000-95734000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:95731000-95734000	Active TSS	NHDF-Ad	bronchial
14	chr8:95731000-95734200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:95731200-95733400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:95731200-95733400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:95731200-95733400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:95731200-95733600	Active TSS	Placenta	Placenta
19	chr8:95731200-95733600	Active TSS	Right Ventricle	heart
20	chr8:95731200-95733800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr8:95731200-95734000	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:95731400-95733400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:95731400-95733400	Active TSS	Muscle Satellite Cultured Cells	--
24	chr8:95731400-95733400	Active TSS	Brain Hippocampus Middle	brain
25	chr8:95731400-95733400	Active TSS	Colon Smooth Muscle	Colon
26	chr8:95731400-95733400	Active TSS	Fetal Intestine Large	intestine
27	chr8:95731400-95733400	Active TSS	Fetal Intestine Small	intestine
28	chr8:95731400-95733400	Active TSS	A549	lung
29	chr8:95731400-95733400	Active TSS	Hela-S3	cervix
30	chr8:95731400-95733600	Active TSS	Left Ventricle	heart
31	chr8:95731400-95733600	Active TSS	K562	blood
32	chr8:95731400-95733800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:95731400-95733800	Active TSS	HMEC	breast
34	chr8:95732400-95733400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:95732400-95733600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:95732400-95734000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr8:95732600-95733600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:95732600-95733600	Flanking Active TSS	Fetal Thymus	thymus
39	chr8:95732600-95733800	Flanking Active TSS	HUVEC	blood vessel
40	chr8:95732600-95734000	Flanking Active TSS	Dnd41	blood
41	chr8:95732800-95733600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr8:95732800-95733600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr8:95732800-95733600	Active TSS	HepG2	liver
44	chr8:95732800-95733600	Flanking Active TSS	NH-A	brain
45	chr8:95732800-95733800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:95732800-95733800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:95732800-95733800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:95732800-95733800	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr8:95732800-95739200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:95732800-95739600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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