Variant report

Variant	rs34718068
Chromosome Location	chr8:120834608-120834609
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:120833704..120835365-chr8:120842629..120845087,2	K562	blood:
2	chr8:120828792..120830755-chr8:120834050..120837790,3	K562	blood:
3	chr8:120824401..120827960-chr8:120833572..120835791,3	K562	blood:
4	chr8:120833974..120836492-chr8:120865753..120868120,2	MCF-7	breast:
5	chr8:120833178..120836613-chr8:120842629..120845407,4	K562	blood:
6	chr8:120832935..120836320-chr8:120843396..120846756,3	MCF-7	breast:
7	chr8:120832794..120834658-chr8:120843363..120846062,2	MCF-7	breast:
8	chr8:120833401..120835033-chr8:120838248..120840429,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136982	Chromatin interaction
ENSG00000064313	Chromatin interaction

Extended variants
information (count: 150 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs10087723	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10088232	0.85[ASN][1000 genomes]
rs10095282	0.85[ASN][1000 genomes]
rs10096486	0.86[ASN][1000 genomes]
rs10096846	0.91[ASN][1000 genomes]
rs10101278	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10102038	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10103886	0.86[ASN][1000 genomes]
rs10109513	0.86[ASN][1000 genomes]
rs10109718	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10109808	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10109901	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109951	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110061	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10110601	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10113252	0.86[ASN][1000 genomes]
rs10113562	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10505374	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1055131	0.86[ASN][1000 genomes]
rs1055133	0.86[ASN][1000 genomes]
rs11985300	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11989053	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12155707	0.88[ASN][1000 genomes]
rs12542706	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12543087	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12545479	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12707876	0.88[ASN][1000 genomes]
rs12707880	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13252708	0.86[ASN][1000 genomes]
rs13253139	0.86[ASN][1000 genomes]
rs13255420	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13255850	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13257002	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13258336	0.87[ASN][1000 genomes]
rs13261032	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13262434	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13268676	0.86[ASN][1000 genomes]
rs13270831	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13272214	0.82[ASN][1000 genomes]
rs13272852	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs14027	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1433951	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1433952	0.84[ASN][1000 genomes]
rs1433953	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1469755	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1509348	0.84[ASN][1000 genomes]
rs1567358	0.84[ASN][1000 genomes]
rs1567359	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16893025	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16893027	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16893071	0.88[ASN][1000 genomes]
rs16893077	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16893101	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16893104	0.89[ASN][1000 genomes]
rs16893109	0.90[ASN][1000 genomes]
rs16893113	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16893140	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1960438	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1960439	0.80[ASN][1000 genomes]
rs1976575	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2043430	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2043431	0.88[ASN][1000 genomes]
rs2048239	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2063282	0.91[ASN][1000 genomes]
rs2136374	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2136375	0.82[ASN][1000 genomes]
rs2289011	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2326377	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2326378	0.91[ASN][1000 genomes]
rs2634	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28421406	0.89[ASN][1000 genomes]
rs28486048	0.87[ASN][1000 genomes]
rs28486074	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28576821	0.89[ASN][1000 genomes]
rs28634937	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28665481	0.89[ASN][1000 genomes]
rs28711081	0.85[ASN][1000 genomes]
rs28715681	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28736344	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28756749	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34070855	0.86[ASN][1000 genomes]
rs35019302	0.85[ASN][1000 genomes]
rs35103910	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35449013	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35496588	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35521072	0.85[ASN][1000 genomes]
rs35660840	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35954443	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3812463	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4870955	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870956	0.90[ASN][1000 genomes]
rs4871578	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871595	0.84[ASN][1000 genomes]
rs4871599	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871629	0.87[ASN][1000 genomes]
rs4871634	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871640	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871642	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871648	0.90[ASN][1000 genomes]
rs4871659	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871660	0.81[ASN][1000 genomes]
rs62526565	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6469841	0.87[ASN][1000 genomes]
rs6469846	0.87[ASN][1000 genomes]
rs6469849	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6469852	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6469853	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6469854	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs67905698	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6983932	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6989559	0.87[ASN][1000 genomes]
rs6989791	0.88[ASN][1000 genomes]
rs6992109	0.86[ASN][1000 genomes]
rs6992632	0.85[ASN][1000 genomes]
rs6994604	0.89[ASN][1000 genomes]
rs6996250	0.90[ASN][1000 genomes]
rs6997976	0.87[ASN][1000 genomes]
rs7001182	0.80[AMR][1000 genomes]
rs7005200	0.85[ASN][1000 genomes]
rs7009073	0.92[ASN][1000 genomes]
rs7011974	0.91[ASN][1000 genomes]
rs7012791	0.83[ASN][1000 genomes]
rs7012857	0.87[ASN][1000 genomes]
rs7017010	0.86[ASN][1000 genomes]
rs7017045	0.87[ASN][1000 genomes]
rs7017279	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7813438	0.87[ASN][1000 genomes]
rs7813651	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7813680	0.85[ASN][1000 genomes]
rs7821501	0.86[ASN][1000 genomes]
rs7825803	0.85[ASN][1000 genomes]
rs7827482	0.90[ASN][1000 genomes]
rs7829198	0.81[ASN][1000 genomes]
rs7829390	0.81[ASN][1000 genomes]
rs7833112	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7833490	0.88[ASN][1000 genomes]
rs7837213	0.89[ASN][1000 genomes]
rs7837589	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7839110	0.86[ASN][1000 genomes]
rs7843304	0.92[ASN][1000 genomes]
rs9297603	0.83[ASN][1000 genomes]
rs9297604	0.88[ASN][1000 genomes]
rs9693207	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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	26 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	chr8:120781600-120844200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:120805200-120841400	Weak transcription	Gastric	stomach
3	chr8:120805200-120843000	Weak transcription	Psoas Muscle	Psoas
4	chr8:120806600-120836800	Weak transcription	Esophagus	oesophagus
5	chr8:120812800-120835000	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr8:120812800-120835400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr8:120812800-120837600	Strong transcription	Primary B cells from peripheral blood	blood
8	chr8:120812800-120842800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr8:120812800-120843600	Strong transcription	Placenta	Placenta
10	chr8:120813400-120835800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:120813400-120844200	Weak transcription	Colonic Mucosa	Colon
12	chr8:120813800-120835600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr8:120814000-120843600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:120814400-120835600	Strong transcription	Dnd41	blood
15	chr8:120815200-120839800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:120815400-120836800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:120815800-120836800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:120815800-120843200	Weak transcription	Pancreas	Pancrea
19	chr8:120816800-120836800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:120817200-120836800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:120818400-120836800	Weak transcription	Lung	lung
22	chr8:120818600-120836800	Weak transcription	Spleen	Spleen
23	chr8:120818600-120837200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:120818800-120844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:120822000-120836800	Weak transcription	Aorta	Aorta
26	chr8:120823800-120842000	Strong transcription	Primary T cells from cord blood	blood
27	chr8:120824000-120843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:120824000-120843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:120824200-120836000	Strong transcription	Fetal Thymus	thymus
30	chr8:120824200-120843200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:120824400-120835000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:120824400-120842000	Strong transcription	Liver	Liver
33	chr8:120824800-120843200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr8:120825000-120836800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:120825400-120844200	Weak transcription	Stomach Mucosa	stomach
36	chr8:120826600-120837200	Weak transcription	Fetal Kidney	kidney
37	chr8:120827400-120835800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:120827600-120836800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:120827600-120836800	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:120827800-120837800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:120828000-120834800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:120828000-120835000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:120828200-120836800	Weak transcription	NHLF	lung
44	chr8:120828400-120835600	Strong transcription	K562	blood
45	chr8:120828600-120835200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr8:120828600-120835200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr8:120829200-120843200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr8:120829400-120835800	Strong transcription	Primary B cells from cord blood	blood
49	chr8:120829400-120836200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:120829600-120838000	Strong transcription	Adipose Nuclei	Adipose

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