Variant report

Variant	rs56273245
Chromosome Location	chr3:47314496-47314497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47314107..47316090-chr3:47317233..47318889,2	K562	blood:
2	chr3:47308470..47309990-chr3:47311711..47314511,2	K562	blood:
3	chr3:47302969..47305795-chr3:47313917..47316703,2	MCF-7	breast:
4	chr3:47314259..47316473-chr3:47352261..47355083,2	K562	blood:
5	chr3:47313668..47315182-chr3:47315381..47317166,2	K562	blood:

Variant related genes	Relation type
ENSG00000088727	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11707038	1.00[ASN][1000 genomes]
rs1874265	1.00[ASN][1000 genomes]
rs1982510	1.00[ASN][1000 genomes]
rs55691981	1.00[ASN][1000 genomes]
rs56121448	1.00[ASN][1000 genomes]
rs57249369	1.00[ASN][1000 genomes]
rs62246404	1.00[ASN][1000 genomes]
rs62246409	1.00[ASN][1000 genomes]
rs62246470	1.00[ASN][1000 genomes]
rs62248895	1.00[ASN][1000 genomes]
rs62248910	1.00[ASN][1000 genomes]
rs62248950	1.00[ASN][1000 genomes]
rs73075647	1.00[ASN][1000 genomes]
rs73079603	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1014457	chr3:47222292-47335175	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv536560	chr3:47222292-47335175	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47264200-47322200	Weak transcription	Gastric	stomach
2	chr3:47282800-47322400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:47285400-47315800	Weak transcription	Pancreas	Pancrea
4	chr3:47293600-47323200	Weak transcription	Spleen	Spleen
5	chr3:47300800-47322800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:47301000-47322800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:47301200-47323000	Weak transcription	Psoas Muscle	Psoas
8	chr3:47302600-47314600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:47302600-47322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:47302800-47323200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:47305600-47323200	Weak transcription	Primary T cells from cord blood	blood
12	chr3:47305800-47315000	Weak transcription	Fetal Intestine Small	intestine
13	chr3:47307000-47314800	Weak transcription	Lung	lung
14	chr3:47308400-47314800	Weak transcription	Fetal Stomach	stomach
15	chr3:47308600-47315400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:47308600-47322200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:47308600-47322400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:47308600-47323000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:47308600-47323200	Weak transcription	Esophagus	oesophagus
20	chr3:47308800-47314600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:47308800-47316400	Weak transcription	Left Ventricle	heart
22	chr3:47308800-47318000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr3:47308800-47322200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:47308800-47322200	Weak transcription	Hela-S3	cervix
25	chr3:47308800-47322200	Weak transcription	HepG2	liver
26	chr3:47308800-47322200	Weak transcription	NHEK	skin
27	chr3:47308800-47322400	Weak transcription	A549	lung
28	chr3:47308800-47322600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:47308800-47322600	Weak transcription	Brain Anterior Caudate	brain
30	chr3:47308800-47322600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr3:47308800-47322800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:47308800-47322800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:47308800-47323000	Weak transcription	Adipose Nuclei	Adipose
34	chr3:47308800-47323000	Weak transcription	Brain Substantia Nigra	brain
35	chr3:47309000-47314800	Weak transcription	Fetal Muscle Leg	muscle
36	chr3:47309000-47316000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr3:47309000-47322200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:47309000-47322200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:47309000-47322400	Weak transcription	Placenta	Placenta
40	chr3:47309000-47322600	Weak transcription	HUVEC	blood vessel
41	chr3:47309000-47322800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:47309000-47322800	Weak transcription	Brain Hippocampus Middle	brain
43	chr3:47309000-47323000	Weak transcription	Colon Smooth Muscle	Colon
44	chr3:47309000-47323200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:47309000-47323200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr3:47309200-47322200	Weak transcription	K562	blood
47	chr3:47309200-47322600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:47309200-47323200	Weak transcription	HSMMtube	muscle
49	chr3:47309800-47322200	Weak transcription	Dnd41	blood
50	chr3:47310000-47314600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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