Variant report

Variant	rs73582860
Chromosome Location	chr8:48223781-48223782
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48222564..48225151-chr8:48648619..48650407,2	MCF-7	breast:
2	chr8:48222519..48229115-chr8:48647530..48652731,12	MCF-7	breast:
3	chr8:48223569..48225954-chr8:48642409..48644484,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221869	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs16925237	1.00[AMR][1000 genomes]
rs16926041	1.00[AMR][1000 genomes]
rs16926621	1.00[AMR][1000 genomes]
rs16927308	1.00[AMR][1000 genomes]
rs16927336	1.00[AMR][1000 genomes]
rs1833510	1.00[AMR][1000 genomes]
rs2362918	1.00[AMR][1000 genomes]
rs4286963	1.00[AMR][1000 genomes]
rs56807775	1.00[AMR][1000 genomes]
rs57210767	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57274985	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57398386	0.92[AFR][1000 genomes]
rs57564982	1.00[AMR][1000 genomes]
rs57659543	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58056961	1.00[AMR][1000 genomes]
rs58965290	1.00[AMR][1000 genomes]
rs59053481	1.00[AMR][1000 genomes]
rs59422998	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60256648	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61376238	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61519381	1.00[AMR][1000 genomes]
rs73565212	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565216	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565219	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565220	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565225	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565226	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565228	1.00[AMR][1000 genomes]
rs73565235	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565236	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565244	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565247	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565249	1.00[AMR][1000 genomes]
rs73565251	1.00[AMR][1000 genomes]
rs73565254	0.92[AFR][1000 genomes]
rs73565260	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565265	1.00[AMR][1000 genomes]
rs73565271	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565273	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565275	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565280	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565287	1.00[AMR][1000 genomes]
rs73565297	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565299	1.00[AMR][1000 genomes]
rs73567507	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567511	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567576	1.00[AMR][1000 genomes]
rs73567579	1.00[AMR][1000 genomes]
rs73581046	1.00[AMR][1000 genomes]
rs73581061	1.00[AMR][1000 genomes]
rs73581066	1.00[AMR][1000 genomes]
rs73581072	1.00[AMR][1000 genomes]
rs73581084	1.00[AMR][1000 genomes]
rs73581087	1.00[AMR][1000 genomes]
rs73581088	1.00[AMR][1000 genomes]
rs73581090	1.00[AMR][1000 genomes]
rs73581092	1.00[AMR][1000 genomes]
rs73581097	1.00[AMR][1000 genomes]
rs73581100	1.00[AMR][1000 genomes]
rs73582803	1.00[AMR][1000 genomes]
rs73582806	1.00[AMR][1000 genomes]
rs73582831	1.00[AMR][1000 genomes]
rs73582835	1.00[AMR][1000 genomes]
rs73582836	1.00[AMR][1000 genomes]
rs73582845	1.00[AMR][1000 genomes]
rs73582848	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582863	1.00[AMR][1000 genomes]
rs73582864	1.00[AMR][1000 genomes]
rs73582865	1.00[AMR][1000 genomes]
rs73582867	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028036	chr8:47531749-48256108	Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1019289	chr8:47536056-48251883	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv539591	chr8:47536056-48251883	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv530882	chr8:47620846-48223868	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv916549	chr8:47982642-48223882	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv1023786	chr8:48163412-48235252	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1031331	chr8:48163412-48239160	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1032993	chr8:48167423-48246277	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1030486	chr8:48167423-48247297	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv3381784	chr8:48223149-48232447	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48183200-48227800	Weak transcription	Stomach Mucosa	stomach
2	chr8:48189600-48225000	Weak transcription	HUVEC	blood vessel
3	chr8:48199200-48227800	Weak transcription	HMEC	breast
4	chr8:48204400-48227800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:48204600-48227000	Weak transcription	K562	blood
6	chr8:48204600-48229600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:48205000-48227600	Weak transcription	Hela-S3	cervix
8	chr8:48207200-48231200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:48207400-48224200	Weak transcription	Spleen	Spleen
10	chr8:48207400-48224600	Weak transcription	HepG2	liver
11	chr8:48207400-48229600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:48207400-48238200	Weak transcription	Aorta	Aorta
13	chr8:48207400-48258000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr8:48207600-48227200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:48207600-48245600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:48207600-48248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:48208400-48227800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:48208400-48240000	Weak transcription	Placenta	Placenta
19	chr8:48208400-48243800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:48208800-48242400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:48209000-48227600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:48209400-48227600	Weak transcription	Osteobl	bone
23	chr8:48209400-48230800	Weak transcription	Brain Substantia Nigra	brain
24	chr8:48209400-48266000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:48210000-48228000	Weak transcription	Left Ventricle	heart
26	chr8:48210000-48242800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:48210600-48243000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:48216200-48224200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:48216200-48224200	Weak transcription	Esophagus	oesophagus
30	chr8:48216200-48227800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr8:48216200-48228400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:48216200-48228600	Weak transcription	Lung	lung
33	chr8:48216200-48229600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:48216200-48229600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:48216200-48229600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:48216200-48229600	Weak transcription	Pancreas	Pancrea
37	chr8:48216200-48229800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:48216200-48249600	Weak transcription	Ovary	ovary
39	chr8:48216200-48252400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:48216400-48232200	Weak transcription	Thymus	Thymus
41	chr8:48216600-48229600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:48216800-48229400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:48216800-48242600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:48217400-48231800	Weak transcription	Brain Germinal Matrix	brain
45	chr8:48219400-48229600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:48219400-48229600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:48219400-48231200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:48222000-48229800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:48222000-48243000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:48222400-48227200	Weak transcription	Liver	Liver

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