Variant report

Variant	rs7382583
Chromosome Location	chr6:28626098-28626099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28582481..28584280-chr6:28624035..28626997,3	K562	blood:
2	chr6:28613173..28620583-chr6:28620759..28628573,15	K562	blood:
3	chr6:28624820..28630084-chr6:28630901..28635993,6	K562	blood:
4	chr6:28625879..28628361-chr6:28638766..28641514,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232040	Chromatin interaction
ENSG00000272278	Chromatin interaction
ENSG00000235570	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10080420	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10434846	1.00[ASN][1000 genomes]
rs10733177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10755647	1.00[ASN][1000 genomes]
rs10807032	1.00[ASN][1000 genomes]
rs10807036	0.83[ASN][1000 genomes]
rs10807040	1.00[ASN][1000 genomes]
rs11758055	1.00[ASN][1000 genomes]
rs12332986	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1474986	0.94[ASN][1000 genomes]
rs2057295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108924	1.00[JPT][hapmap]
rs2191036	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2394119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382606	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2859375	1.00[JPT][hapmap]
rs34358978	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34931542	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs381493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384399	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3852211	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389603	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs392471	0.88[ASN][1000 genomes]
rs394772	1.00[ASN][1000 genomes]
rs399558	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3999023	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404343	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408255	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411538	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4121090	1.00[ASN][1000 genomes]
rs418628	1.00[ASN][1000 genomes]
rs418898	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420436	1.00[ASN][1000 genomes]
rs420463	1.00[ASN][1000 genomes]
rs422089	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs424426	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs426922	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429875	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434636	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs442174	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs443924	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449074	1.00[ASN][1000 genomes]
rs454746	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711176	1.00[ASN][1000 genomes]
rs4713172	1.00[ASN][1000 genomes]
rs4713174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5007575	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55860825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456820	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6456829	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456832	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456833	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899512	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6906826	1.00[ASN][1000 genomes]
rs6923163	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925972	1.00[ASN][1000 genomes]
rs6927023	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6935589	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6937042	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6941222	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7381746	1.00[ASN][1000 genomes]
rs7382159	1.00[ASN][1000 genomes]
rs7382309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771490	1.00[ASN][1000 genomes]
rs7773193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911178	0.88[ASN][1000 genomes]
rs9393922	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9393923	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461464	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9468375	1.00[EUR][1000 genomes]
rs9468384	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9468394	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020689	chr6:28449137-28635171	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1031671	chr6:28575172-28678126	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28624600-28626600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:28624600-28626600	Active TSS	Brain Anterior Caudate	brain
3	chr6:28624600-28627200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:28624600-28627200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
5	chr6:28624800-28626800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:28624800-28626800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:28624800-28626800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:28624800-28626800	Active TSS	Ovary	ovary
9	chr6:28624800-28626800	Active TSS	Hela-S3	cervix
10	chr6:28624800-28627000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:28624800-28627000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr6:28624800-28627000	Active TSS	Brain Angular Gyrus	brain
13	chr6:28624800-28627000	Active TSS	Brain Cingulate Gyrus	brain
14	chr6:28624800-28627000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr6:28624800-28627200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:28624800-28627200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr6:28624800-28627200	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr6:28624800-28627200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:28624800-28627200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:28625000-28626600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:28625000-28626600	Active TSS	Brain Hippocampus Middle	brain
22	chr6:28625000-28626600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr6:28625000-28626800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr6:28625000-28626800	Active TSS	Fetal Brain Male	brain
25	chr6:28625000-28627000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:28625000-28627000	Active TSS	Right Atrium	heart
27	chr6:28625000-28627200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
28	chr6:28625000-28627400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:28625000-28627400	Active TSS	Fetal Brain Female	brain
30	chr6:28625200-28626200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:28625200-28626400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:28625200-28626600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
33	chr6:28625200-28626600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:28625200-28626600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
35	chr6:28625200-28626800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:28625200-28626800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:28625200-28626800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
38	chr6:28625200-28627000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr6:28625200-28627000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:28625200-28627000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:28625200-28627000	Bivalent/Poised TSS	NHDF-Ad	bronchial
42	chr6:28625200-28627000	Active TSS	NHLF	lung
43	chr6:28625200-28627200	Active TSS	Fetal Muscle Trunk	muscle
44	chr6:28625200-28627200	Active TSS	A549	lung
45	chr6:28625200-28627200	Active TSS	HSMM	muscle
46	chr6:28625200-28627400	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr6:28625400-28626200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
48	chr6:28625400-28626200	Active TSS	Fetal Lung	lung
49	chr6:28625400-28626200	Active TSS	K562	blood
50	chr6:28625400-28626400	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood

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