Variant report

Variant	rs6791777
Chromosome Location	chr3:48654483-48654484
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48645526..48649899-chr3:48652582..48656275,6	K562	blood:
2	chr3:48647850..48649899-chr3:48653593..48656321,2	K562	blood:

Variant related genes	Relation type
ENSG00000010256	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10780032	1.00[EUR][1000 genomes]
rs11130169	1.00[EUR][1000 genomes]
rs11915428	1.00[EUR][1000 genomes]
rs13318132	1.00[EUR][1000 genomes]
rs14828	1.00[EUR][1000 genomes]
rs28523319	1.00[EUR][1000 genomes]
rs3924179	1.00[EUR][1000 genomes]
rs4858818	1.00[EUR][1000 genomes]
rs55782175	1.00[EUR][1000 genomes]
rs58708931	1.00[EUR][1000 genomes]
rs58835493	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58914641	1.00[EUR][1000 genomes]
rs59352296	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60338814	1.00[EUR][1000 genomes]
rs60352528	1.00[EUR][1000 genomes]
rs6442122	1.00[EUR][1000 genomes]
rs6793732	1.00[EUR][1000 genomes]
rs6801348	1.00[EUR][1000 genomes]
rs72930094	1.00[EUR][1000 genomes]
rs72931155	1.00[EUR][1000 genomes]
rs72931157	1.00[EUR][1000 genomes]
rs72931171	1.00[EUR][1000 genomes]
rs73830466	1.00[EUR][1000 genomes]
rs73830478	1.00[EUR][1000 genomes]
rs73831577	1.00[EUR][1000 genomes]
rs73831579	1.00[EUR][1000 genomes]
rs7633433	1.00[EUR][1000 genomes]
rs898226	1.00[EUR][1000 genomes]
rs9852211	1.00[EUR][1000 genomes]
rs9860187	1.00[EUR][1000 genomes]
rs9876812	1.00[EUR][1000 genomes]
rs9882714	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv818138	chr3:48610925-48731487	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv590246	chr3:48628014-48721040	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48647400-48654600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:48647400-48654600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr3:48647400-48654800	Weak transcription	Gastric	stomach
4	chr3:48647600-48654600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:48648400-48654600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:48648400-48661200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:48648600-48654600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:48648600-48654600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:48649000-48672000	Weak transcription	Fetal Brain Male	brain
10	chr3:48651800-48662400	Weak transcription	NHLF	lung
11	chr3:48652000-48654600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:48652000-48654600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:48652000-48654600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:48652800-48654600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr3:48653400-48655400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:48653400-48656600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:48653400-48656600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:48653400-48656600	ZNF genes & repeats	Dnd41	blood
19	chr3:48653600-48654600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:48653600-48656200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr3:48654000-48654600	Weak transcription	Hela-S3	cervix
22	chr3:48654200-48654800	Weak transcription	Brain Germinal Matrix	brain
23	chr3:48654200-48656200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr3:48654400-48654600	Weak transcription	Placenta	Placenta
25	chr3:48654400-48655400	ZNF genes & repeats	Colonic Mucosa	Colon
26	chr3:48654400-48655400	ZNF genes & repeats	HepG2	liver
27	chr3:48654400-48655400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
28	chr3:48654400-48655600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:48654400-48655600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:48654400-48656000	ZNF genes & repeats	Fetal Intestine Small	intestine

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