Variant report

Variant	rs9852243
Chromosome Location	chr3:53891537-53891538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53888852..53890407-chr3:53890829..53893730,2	K562	blood:
2	chr3:53889507..53891726-chr3:53914863..53916611,2	MCF-7	breast:
3	chr3:53878629..53881188-chr3:53889615..53893181,4	MCF-7	breast:
4	chr3:53889294..53893230-chr3:53913823..53917660,4	K562	blood:

Variant related genes	Relation type
ENSG00000222888	Chromatin interaction
ENSG00000056736	Chromatin interaction
ENSG00000016391	Chromatin interaction
ENSG00000113812	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11130383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11130384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562	0.83[AFR][1000 genomes]
rs12715465	1.00[AMR][1000 genomes]
rs13321898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13322337	1.00[AMR][1000 genomes]
rs13434145	1.00[AMR][1000 genomes]
rs28409957	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6782007	1.00[AMR][1000 genomes]
rs6785238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6802878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72556356	1.00[AMR][1000 genomes]
rs7614233	1.00[AMR][1000 genomes]
rs7636496	1.00[AMR][1000 genomes]
rs7637908	1.00[AMR][1000 genomes]
rs7640840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9814675	1.00[AMR][1000 genomes]
rs9816010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9818571	1.00[AMR][1000 genomes]
rs9823141	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9830672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9833359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9834168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9835258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9849610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9859937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9860224	1.00[AMR][1000 genomes]
rs9872403	1.00[AMR][1000 genomes]
rs9878250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9882134	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv876804	chr3:53833509-53934171	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1010575	chr3:53846741-53934781	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1006990	chr3:53849510-54285212	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv997771	chr3:53852695-53926635	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1002141	chr3:53858541-53934781	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53881000-53892600	Weak transcription	Psoas Muscle	Psoas
2	chr3:53881000-53893200	Weak transcription	Ovary	ovary
3	chr3:53881200-53892400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:53881200-53895000	Weak transcription	A549	lung
5	chr3:53881200-53895800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:53881400-53892000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:53881400-53892000	Weak transcription	Gastric	stomach
8	chr3:53881400-53892200	Weak transcription	Fetal Intestine Large	intestine
9	chr3:53881400-53892200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:53881400-53892600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:53881400-53892600	Weak transcription	Hela-S3	cervix
12	chr3:53881400-53892800	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:53881400-53893000	Weak transcription	Brain Angular Gyrus	brain
14	chr3:53881400-53893000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr3:53882600-53892200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:53882800-53892200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:53884000-53895800	Strong transcription	HepG2	liver
18	chr3:53884400-53892200	Weak transcription	Fetal Brain Female	brain
19	chr3:53884400-53892800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:53885000-53901000	Weak transcription	Fetal Heart	heart
21	chr3:53885200-53892200	Weak transcription	Fetal Lung	lung
22	chr3:53885400-53892400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:53885400-53892800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:53885400-53895200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:53885600-53892200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr3:53885600-53892600	Weak transcription	Left Ventricle	heart
27	chr3:53885600-53896600	Weak transcription	Right Ventricle	heart
28	chr3:53886200-53897200	Weak transcription	Colonic Mucosa	Colon
29	chr3:53887600-53892400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:53887800-53892800	Weak transcription	Lung	lung
31	chr3:53887800-53898400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:53888000-53892400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr3:53888400-53914600	Weak transcription	Stomach Mucosa	stomach
34	chr3:53888800-53891800	Weak transcription	Brain Germinal Matrix	brain
35	chr3:53888800-53892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:53888800-53892600	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:53888800-53894400	Weak transcription	Primary T cells from cord blood	blood
38	chr3:53889000-53901400	Weak transcription	Esophagus	oesophagus
39	chr3:53889200-53892800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr3:53889200-53894400	Strong transcription	Fetal Intestine Small	intestine
41	chr3:53889400-53892800	Enhancers	GM12878-XiMat	blood
42	chr3:53889600-53892000	Strong transcription	Liver	Liver
43	chr3:53889600-53892200	Weak transcription	Adipose Nuclei	Adipose
44	chr3:53889600-53892600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:53889600-53892800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:53889600-53892800	Weak transcription	Thymus	Thymus
47	chr3:53889600-53895200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:53889600-53896000	Strong transcription	Pancreas	Pancrea
49	chr3:53889600-53913800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr3:53889800-53892400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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