Variant report

Variant	rs73582848
Chromosome Location	chr8:48178305-48178306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48172011..48175371-chr8:48175575..48179063,4	K562	blood:
2	chr8:48170564..48176708-chr8:48177102..48184865,12	K562	blood:

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:65)

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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2362918	1.00[AMR][1000 genomes]
rs4286963	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56807775	1.00[AMR][1000 genomes]
rs57210767	1.00[AMR][1000 genomes]
rs57274985	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57564982	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57659543	1.00[AMR][1000 genomes]
rs58056961	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59053481	1.00[AMR][1000 genomes]
rs59422998	1.00[AMR][1000 genomes]
rs60256648	1.00[AMR][1000 genomes]
rs61376238	1.00[AMR][1000 genomes]
rs61519381	1.00[AMR][1000 genomes]
rs73565212	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565216	1.00[AMR][1000 genomes]
rs73565219	1.00[AMR][1000 genomes]
rs73565220	1.00[AMR][1000 genomes]
rs73565225	1.00[AMR][1000 genomes]
rs73565226	1.00[AMR][1000 genomes]
rs73565228	1.00[AMR][1000 genomes]
rs73565235	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565236	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565244	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565247	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565249	1.00[AMR][1000 genomes]
rs73565251	1.00[AMR][1000 genomes]
rs73565260	1.00[AMR][1000 genomes]
rs73565265	1.00[AMR][1000 genomes]
rs73565271	1.00[AMR][1000 genomes]
rs73565273	1.00[AMR][1000 genomes]
rs73565275	1.00[AMR][1000 genomes]
rs73565280	1.00[AMR][1000 genomes]
rs73565287	1.00[AMR][1000 genomes]
rs73565297	1.00[AMR][1000 genomes]
rs73565299	1.00[AMR][1000 genomes]
rs73567507	1.00[AMR][1000 genomes]
rs73581046	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581061	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581066	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581072	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581084	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581087	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581088	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581090	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581092	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581097	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581099	0.89[AFR][1000 genomes]
rs73581100	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582803	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582806	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582831	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582835	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582836	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582845	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582860	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	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48174200-48188400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:48174200-48198400	Weak transcription	Spleen	Spleen
3	chr8:48174200-48199000	Weak transcription	Esophagus	oesophagus
4	chr8:48174200-48203800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:48174400-48192000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:48174400-48197400	Weak transcription	Right Atrium	heart
7	chr8:48174600-48178800	Weak transcription	Fetal Intestine Small	intestine
8	chr8:48174600-48193200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:48174600-48193400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:48174600-48195800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:48174600-48198200	Weak transcription	Liver	Liver
12	chr8:48174800-48180600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:48174800-48182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:48174800-48182600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:48174800-48183800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:48174800-48188800	Weak transcription	HSMM	muscle
17	chr8:48174800-48197200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:48174800-48198200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr8:48175000-48182600	Weak transcription	Primary B cells from cord blood	blood
20	chr8:48175000-48190600	Weak transcription	HMEC	breast
21	chr8:48175200-48178600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:48175200-48179000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:48175200-48179600	Weak transcription	NHEK	skin
24	chr8:48175200-48182600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:48175200-48182600	Weak transcription	A549	lung
26	chr8:48175200-48189200	Weak transcription	HSMMtube	muscle
27	chr8:48175200-48191800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:48175200-48193400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:48175200-48197000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:48175200-48197800	Weak transcription	Hela-S3	cervix
31	chr8:48175200-48198800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:48175400-48180000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:48175400-48180000	Weak transcription	NHDF-Ad	bronchial
34	chr8:48175400-48182400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:48175400-48182800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:48175400-48188400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:48175400-48189200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:48175400-48193000	Weak transcription	Left Ventricle	heart
39	chr8:48175400-48193400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr8:48175400-48193600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:48175400-48203600	Weak transcription	NHLF	lung
42	chr8:48175600-48181200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:48176000-48191800	Weak transcription	Dnd41	blood
44	chr8:48176800-48179800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:48177400-48182600	Weak transcription	Monocytes-CD14+_RO01746	blood

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