Variant report

Variant	rs13258336
Chromosome Location	chr8:120840391-120840392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120839573..120843319-chr8:120843374..120845146,4	MCF-7	breast:
2	chr8:120828952..120831622-chr8:120839219..120841091,2	K562	blood:
3	chr8:120833401..120835033-chr8:120838248..120840429,2	K562	blood:
4	chr8:120839422..120842271-chr8:120843516..120845279,4	K562	blood:
5	chr8:120827240..120828744-chr8:120838201..120841104,2	K562	blood:

Variant related genes	Relation type
ENSG00000064313	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10088232	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10096486	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10096846	0.81[ASN][1000 genomes]
rs10101278	0.83[ASN][1000 genomes]
rs10108071	0.91[ASN][1000 genomes]
rs10109513	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10109718	0.82[ASN][1000 genomes]
rs10109808	0.81[ASN][1000 genomes]
rs10109901	0.87[ASN][1000 genomes]
rs10109951	0.87[ASN][1000 genomes]
rs10110061	0.83[ASN][1000 genomes]
rs10110601	0.82[ASN][1000 genomes]
rs10113252	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10113562	0.84[ASN][1000 genomes]
rs10505374	0.88[ASN][1000 genomes]
rs1055130	0.90[ASN][1000 genomes]
rs1055131	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1055133	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11985300	0.81[ASN][1000 genomes]
rs12155707	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12542706	0.88[ASN][1000 genomes]
rs12543087	0.82[ASN][1000 genomes]
rs12545479	0.88[ASN][1000 genomes]
rs12707880	0.90[ASN][1000 genomes]
rs13268676	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13272214	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs14027	0.90[ASN][1000 genomes]
rs1433951	0.82[ASN][1000 genomes]
rs1433952	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1509348	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1567358	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1567359	0.82[ASN][1000 genomes]
rs16893109	0.80[ASN][1000 genomes]
rs16893140	0.81[ASN][1000 genomes]
rs1960438	0.85[ASN][1000 genomes]
rs1960439	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1976575	0.84[ASN][1000 genomes]
rs2043430	0.82[ASN][1000 genomes]
rs2063282	0.81[ASN][1000 genomes]
rs2136375	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2326378	0.81[ASN][1000 genomes]
rs2634	0.87[ASN][1000 genomes]
rs28486048	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28715681	0.84[ASN][1000 genomes]
rs28736344	0.88[ASN][1000 genomes]
rs28756749	0.84[ASN][1000 genomes]
rs34718068	0.87[ASN][1000 genomes]
rs35019302	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35103910	0.83[ASN][1000 genomes]
rs35148850	0.86[ASN][1000 genomes]
rs35496588	0.86[ASN][1000 genomes]
rs35954443	0.81[ASN][1000 genomes]
rs3812463	0.86[ASN][1000 genomes]
rs4870955	0.87[ASN][1000 genomes]
rs4870956	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871577	0.81[ASN][1000 genomes]
rs4871578	0.81[ASN][1000 genomes]
rs4871595	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4871597	0.82[ASN][1000 genomes]
rs4871599	0.82[ASN][1000 genomes]
rs4871629	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871634	0.86[ASN][1000 genomes]
rs4871640	0.87[ASN][1000 genomes]
rs4871642	0.85[ASN][1000 genomes]
rs4871648	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871659	0.86[ASN][1000 genomes]
rs4871660	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6469846	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6469849	0.85[ASN][1000 genomes]
rs6469852	0.85[ASN][1000 genomes]
rs6469853	0.84[ASN][1000 genomes]
rs6469854	0.84[ASN][1000 genomes]
rs67905698	0.83[ASN][1000 genomes]
rs6983932	0.84[ASN][1000 genomes]
rs6989559	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989791	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6992109	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6996250	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7009073	0.82[ASN][1000 genomes]
rs7011974	0.81[ASN][1000 genomes]
rs7012857	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7015793	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7017010	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017045	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7017279	0.86[ASN][1000 genomes]
rs7813438	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7813651	0.88[ASN][1000 genomes]
rs7813680	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7821501	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7827482	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7829198	0.87[ASN][1000 genomes]
rs7832755	0.86[ASN][1000 genomes]
rs7833112	0.88[ASN][1000 genomes]
rs7833490	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7833706	0.89[ASN][1000 genomes]
rs7837589	0.84[ASN][1000 genomes]
rs7839110	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7843304	0.82[ASN][1000 genomes]
rs9297605	0.86[ASN][1000 genomes]
rs9693207	0.81[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	chr8:120812800-120842800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:120812800-120843600	Strong transcription	Placenta	Placenta
6	chr8:120813400-120844200	Weak transcription	Colonic Mucosa	Colon
7	chr8:120814000-120843600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:120815800-120843200	Weak transcription	Pancreas	Pancrea
9	chr8:120818800-120844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:120823800-120842000	Strong transcription	Primary T cells from cord blood	blood
11	chr8:120824000-120843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:120824000-120843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:120824200-120843200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:120824400-120842000	Strong transcription	Liver	Liver
15	chr8:120824800-120843200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:120825400-120844200	Weak transcription	Stomach Mucosa	stomach
17	chr8:120829200-120843200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:120829800-120844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:120830000-120844200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:120830400-120843200	Weak transcription	HMEC	breast
21	chr8:120830600-120841000	Weak transcription	Small Intestine	intestine
22	chr8:120830800-120843800	Weak transcription	Fetal Brain Male	brain
23	chr8:120831800-120840400	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:120831800-120843600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:120832000-120843000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:120832400-120840600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:120832600-120843400	Weak transcription	HUVEC	blood vessel
28	chr8:120833000-120843400	Strong transcription	Fetal Muscle Leg	muscle
29	chr8:120833400-120843400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr8:120833600-120843400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:120833800-120844200	Weak transcription	Brain Angular Gyrus	brain
32	chr8:120834000-120842800	Strong transcription	Brain Germinal Matrix	brain
33	chr8:120834000-120843400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:120834000-120843400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:120834000-120844000	Weak transcription	Fetal Heart	heart
36	chr8:120835400-120841000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:120835400-120843400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:120836000-120842000	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:120836000-120844200	Weak transcription	HSMMtube	muscle
40	chr8:120836400-120842200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:120836600-120842200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:120836600-120843400	Strong transcription	Fetal Stomach	stomach
43	chr8:120836600-120843600	Strong transcription	Fetal Intestine Large	intestine
44	chr8:120836800-120840600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:120836800-120841800	Strong transcription	Ovary	ovary
46	chr8:120836800-120842800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:120836800-120843200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:120836800-120843400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr8:120836800-120843400	Strong transcription	Thymus	Thymus
50	chr8:120837000-120840400	Weak transcription	Placenta Amnion	Placenta Amnion

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