Variant report

Variant	rs73565220
Chromosome Location	chr8:48292870-48292871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48276921..48279533-chr8:48290586..48293171,2	MCF-7	breast:
2	chr8:48288492..48291157-chr8:48291634..48296219,4	MCF-7	breast:
3	chr8:48291685..48296788-chr8:48648654..48651770,5	MCF-7	breast:
4	chr8:48286201..48287772-chr8:48290885..48293117,2	MCF-7	breast:
5	chr8:48289062..48291222-chr8:48292317..48294318,2	K562	blood:

Variant related genes	Relation type
ENSG00000221869	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57274985	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57398386	0.89[AFR][1000 genomes]
rs57564982	1.00[AMR][1000 genomes]
rs57659543	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58056961	1.00[AMR][1000 genomes]
rs58572522	1.00[AMR][1000 genomes]
rs58965290	1.00[AMR][1000 genomes]
rs59053481	1.00[AMR][1000 genomes]
rs59422998	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60256648	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61376238	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61519381	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565212	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565216	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565228	1.00[AMR][1000 genomes]
rs73565235	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565236	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565244	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565247	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565249	1.00[AMR][1000 genomes]
rs73565251	1.00[AMR][1000 genomes]
rs73565254	0.89[AFR][1000 genomes]
rs73565260	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565265	1.00[AMR][1000 genomes]
rs73565271	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565273	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565275	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565280	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565287	1.00[AMR][1000 genomes]
rs73565297	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565299	1.00[AMR][1000 genomes]
rs73567507	1.00[AMR][1000 genomes]
rs73567511	1.00[AMR][1000 genomes]
rs73567576	1.00[AMR][1000 genomes]
rs73567579	1.00[AMR][1000 genomes]
rs73567581	1.00[AMR][1000 genomes]
rs73567582	1.00[AMR][1000 genomes]
rs73567584	1.00[AMR][1000 genomes]
rs73567589	1.00[AMR][1000 genomes]
rs73567590	1.00[AMR][1000 genomes]
rs73567593	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567594	1.00[AMR][1000 genomes]
rs73567596	1.00[AMR][1000 genomes]
rs73567597	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	1.00[AMR][1000 genomes]
rs73582860	0.92[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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7463108	1.00[AMR][1000 genomes]
rs751786	1.00[AMR][1000 genomes]
rs7818094	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1018457	chr8:48289643-48321308	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48248800-48309600	Weak transcription	Thymus	Thymus
2	chr8:48262400-48309600	Weak transcription	Fetal Stomach	stomach
3	chr8:48263200-48297200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:48266600-48297200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:48266800-48297000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:48267000-48295400	Weak transcription	HSMM	muscle
7	chr8:48267800-48295000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:48278800-48309000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:48279000-48299600	Weak transcription	Spleen	Spleen
10	chr8:48279000-48310200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:48280600-48311200	Weak transcription	Aorta	Aorta
12	chr8:48282200-48301200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr8:48282200-48311200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr8:48282200-48312200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr8:48282400-48300200	Weak transcription	Primary T cells from cord blood	blood
16	chr8:48282400-48321200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:48282800-48299800	Weak transcription	Dnd41	blood
18	chr8:48283600-48297200	Weak transcription	Right Atrium	heart
19	chr8:48283800-48300200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:48284000-48300400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:48284200-48300200	Weak transcription	Primary B cells from cord blood	blood
22	chr8:48284200-48301000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:48284600-48296600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:48288600-48294400	Enhancers	Fetal Lung	lung
25	chr8:48288600-48296600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr8:48288600-48296800	Enhancers	Stomach Mucosa	stomach
27	chr8:48288800-48294400	Enhancers	Fetal Intestine Small	intestine
28	chr8:48289000-48294000	Weak transcription	Gastric	stomach
29	chr8:48289000-48295600	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:48289200-48297200	Weak transcription	K562	blood
31	chr8:48289400-48294400	Enhancers	Fetal Intestine Large	intestine
32	chr8:48290000-48293600	Enhancers	HMEC	breast
33	chr8:48290000-48293600	Enhancers	NHEK	skin
34	chr8:48290400-48293800	Weak transcription	Small Intestine	intestine
35	chr8:48290400-48295600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:48290400-48297200	Weak transcription	Left Ventricle	heart
37	chr8:48290400-48299600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:48290400-48311400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:48290600-48293800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:48290800-48293200	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:48290800-48295400	Weak transcription	HSMMtube	muscle
42	chr8:48290800-48322200	Weak transcription	Liver	Liver
43	chr8:48290800-48347400	Weak transcription	HepG2	liver
44	chr8:48291000-48295600	Weak transcription	A549	lung
45	chr8:48291200-48294400	Enhancers	Pancreas	Pancrea
46	chr8:48291400-48294400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr8:48291400-48295200	Weak transcription	Osteobl	bone
48	chr8:48291400-48295400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:48291400-48295600	Weak transcription	Hela-S3	cervix
50	chr8:48291400-48310000	Weak transcription	Fetal Muscle Trunk	muscle

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