Variant report

Variant	rs10110080
Chromosome Location	chr8:95730924-95730925
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:95730767-95732960	SK-N-MC	brain:	n/a	n/a
2	TEAD4	chr8:95730861-95731331	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr8:95730711-95731306	HepG2	liver:	n/a	n/a
4	POLR2A	chr8:95730769-95730968	MCF-7	breast:	n/a	n/a
5	TEAD4	chr8:95730818-95732826	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr8:95730479-95730993	K562	blood:	n/a	n/a
7	POLR2A	chr8:95730849-95731167	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95564818..95567463-chr8:95729750..95733556,7	MCF-7	breast:
2	chr8:95724740..95726809-chr8:95728368..95731829,3	K562	blood:
3	chr8:95728931..95733735-chr8:95735785..95738955,5	K562	blood:
4	chr8:95729243..95731329-chr8:96054222..96055835,2	MCF-7	breast:
5	chr8:95730604..95734079-chr8:95734980..95738829,4	K562	blood:
6	chr8:95448469..95450952-chr8:95730677..95732921,2	K562	blood:
7	chr8:95715757..95719252-chr8:95729531..95731963,3	MCF-7	breast:
8	chr8:95728931..95732611-chr8:95833805..95837140,4	MCF-7	breast:
9	chr8:95594768..95596866-chr8:95728891..95731835,2	MCF-7	breast:
10	chr8:95729194..95732045-chr8:95835297..95837724,2	MCF-7	breast:
11	chr8:95564422..95566417-chr8:95730460..95733624,3	K562	blood:
12	chr8:95729482..95731832-chr8:95838705..95841521,2	MCF-7	breast:
13	chr6:34855264..34858113-chr8:95729278..95731801,2	MCF-7	breast:
14	chr15:65596705..65598634-chr8:95730431..95732078,2	MCF-7	breast:
15	chr8:95680054..95682233-chr8:95729748..95731453,2	MCF-7	breast:
16	chr8:95650894..95656484-chr8:95728446..95733482,20	MCF-7	breast:
17	chr8:95650400..95656999-chr8:95729644..95735467,19	MCF-7	breast:
18	chr8:95485981..95488677-chr8:95730553..95733529,2	K562	blood:
19	chr8:95576615..95579797-chr8:95730119..95732056,3	MCF-7	breast:
20	chr8:95730539..95733622-chr8:95834206..95838888,6	K562	blood:

No data

Variant related genes	Relation type
DPY19L4	TF binding region
ENSG00000199701	TF binding region
ENSG00000156162	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000104413	Chromatin interaction
ENSG00000265817	Chromatin interaction
ENSG00000253704	Chromatin interaction
ENSG00000199701	Chromatin interaction
ENSG00000064995	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000064999	Chromatin interaction
ENSG00000253175	Chromatin interaction
ENSG00000261437	Chromatin interaction
ENSG00000197275	Chromatin interaction
ENSG00000164944	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10091213	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1046155	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1046163	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956925	0.87[EUR][1000 genomes]
rs11785	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12386792	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12543234	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12543253	0.87[EUR][1000 genomes]
rs12543258	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12543514	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12544778	0.89[EUR][1000 genomes]
rs12545296	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12545776	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12546263	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12546282	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12548165	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12675372	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12676890	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12676908	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12677807	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12677830	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12678311	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12678709	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12678729	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13248437	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254184	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13260827	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13266255	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13267007	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1365203	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1365205	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1549466	0.87[EUR][1000 genomes]
rs15710	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs15726	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17717161	0.87[EUR][1000 genomes]
rs2052718	0.81[ASN][1000 genomes]
rs2052719	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2052720	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2052721	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2241504	0.87[EUR][1000 genomes]
rs2288260	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2303453	0.82[EUR][1000 genomes]
rs2554396	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2554397	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2722874	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2722876	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2722883	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2722884	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28659779	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34733016	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3864655	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4008177	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4639480	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55890917	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57653937	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58422141	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59515090	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59557867	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60573557	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62523459	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6471460	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6471461	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6471462	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6471464	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6471465	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6471466	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6471467	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6471468	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6471470	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471471	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6471472	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6471473	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471474	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471475	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6471478	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66477120	0.89[EUR][1000 genomes]
rs66850135	0.89[EUR][1000 genomes]
rs67900173	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6992360	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009161	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7010722	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7016360	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7017752	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7017996	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72676924	0.87[EUR][1000 genomes]
rs72676929	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72676935	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7387164	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7388010	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7461991	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7462846	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7464856	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7812489	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7813107	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7813216	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7813657	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7814238	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7815719	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7816188	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7816645	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7820240	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7820441	0.82[EUR][1000 genomes]
rs7823050	0.88[ASN][1000 genomes]
rs7824332	0.90[ASN][1000 genomes]
rs7827727	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829467	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7832022	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7832771	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7833299	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7833363	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7836949	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7840284	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7842246	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7842400	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7842716	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9643347	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9692638	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv511392	chr8:95721252-95732766	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95714400-95731400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:95718400-95731400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:95718800-95731200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:95719400-95731000	Weak transcription	Placenta	Placenta
5	chr8:95719600-95731000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:95720000-95731000	Weak transcription	Fetal Intestine Large	intestine
7	chr8:95720200-95731000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:95720200-95731000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:95723000-95731000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:95724600-95731000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:95726600-95731000	Weak transcription	HMEC	breast
12	chr8:95726600-95731000	Weak transcription	NHEK	skin
13	chr8:95729000-95731600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:95730400-95731000	Active TSS	Hela-S3	cervix
15	chr8:95730400-95731000	Enhancers	K562	blood
16	chr8:95730400-95731200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr8:95730400-95731400	Flanking Active TSS	Dnd41	blood
18	chr8:95730600-95731000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:95730600-95731000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:95730600-95731000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:95730600-95731000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:95730600-95731000	Enhancers	Fetal Thymus	thymus
23	chr8:95730600-95731200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:95730600-95731200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr8:95730600-95731200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:95730600-95733800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr8:95730800-95731000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:95730800-95731000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:95730800-95731000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:95730800-95731000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr8:95730800-95731000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:95730800-95731000	Enhancers	Brain Hippocampus Middle	brain
33	chr8:95730800-95731000	Enhancers	Fetal Intestine Small	intestine
34	chr8:95730800-95731000	Enhancers	Small Intestine	intestine
35	chr8:95730800-95731200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:95730800-95731200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr8:95730800-95731200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr8:95730800-95731200	Enhancers	Primary T cells from cord blood	blood
39	chr8:95730800-95731200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:95730800-95731200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr8:95730800-95731200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:95730800-95731200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:95730800-95731200	Enhancers	Liver	Liver
44	chr8:95730800-95731200	Enhancers	Fetal Muscle Trunk	muscle
45	chr8:95730800-95731200	Enhancers	Fetal Muscle Leg	muscle
46	chr8:95730800-95731200	Enhancers	Fetal Stomach	stomach
47	chr8:95730800-95731200	Enhancers	Placenta Amnion	Placenta Amnion
48	chr8:95730800-95731200	Enhancers	Psoas Muscle	Psoas
49	chr8:95730800-95731400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:95730800-95731400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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