Variant report

Variant	rs9289473
Chromosome Location	chr3:134232396-134232397
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:134202906..134205341-chr3:134231690..134233483,2	K562	blood:
2	chr3:134230977..134232793-chr3:134238434..134239989,2	MCF-7	breast:
3	chr3:134230319..134232956-chr3:134234483..134236729,3	MCF-7	breast:
4	chr3:134225453..134227625-chr3:134231530..134233647,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129055	Chromatin interaction
ENSG00000182923	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10804633	1.00[AMR][1000 genomes]
rs10935122	1.00[AMR][1000 genomes]
rs12632372	1.00[AMR][1000 genomes]
rs4396934	1.00[AMR][1000 genomes]
rs4440162	1.00[AMR][1000 genomes]
rs4560339	1.00[AMR][1000 genomes]
rs4596189	1.00[AMR][1000 genomes]
rs4955477	1.00[AMR][1000 genomes]
rs4955535	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4955549	1.00[AMR][1000 genomes]
rs6439485	1.00[AMR][1000 genomes]
rs6439486	1.00[AMR][1000 genomes]
rs6439490	1.00[AMR][1000 genomes]
rs6439505	1.00[AMR][1000 genomes]
rs6776208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6777283	1.00[AMR][1000 genomes]
rs6805568	1.00[AMR][1000 genomes]
rs6805896	1.00[AMR][1000 genomes]
rs6806608	1.00[AMR][1000 genomes]
rs7356009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7372999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7609638	1.00[AMR][1000 genomes]
rs7609727	1.00[AMR][1000 genomes]
rs7633582	1.00[AMR][1000 genomes]
rs9289477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9844020	1.00[AMR][1000 genomes]
rs9870217	1.00[AMR][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	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv829730	chr3:134199097-134359544	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134206400-134234600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:134206400-134241200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:134206600-134232800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:134206600-134251600	Weak transcription	Colonic Mucosa	Colon
5	chr3:134206800-134236400	Weak transcription	Hela-S3	cervix
6	chr3:134207000-134235400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:134207000-134235800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:134207000-134235800	Weak transcription	A549	lung
9	chr3:134207000-134235800	Weak transcription	HepG2	liver
10	chr3:134207000-134241600	Weak transcription	Psoas Muscle	Psoas
11	chr3:134213800-134246000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:134215800-134242200	Weak transcription	NHEK	skin
13	chr3:134216000-134235800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:134216200-134235800	Weak transcription	HSMMtube	muscle
15	chr3:134216200-134236400	Weak transcription	NH-A	brain
16	chr3:134220200-134232400	Weak transcription	Brain Angular Gyrus	brain
17	chr3:134220400-134232600	Weak transcription	Right Ventricle	heart
18	chr3:134222000-134245800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:134222400-134235800	Weak transcription	NHLF	lung
20	chr3:134223200-134232800	Weak transcription	Brain Anterior Caudate	brain
21	chr3:134223200-134237000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr3:134223600-134236200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:134223600-134240800	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:134223800-134232800	Strong transcription	Fetal Thymus	thymus
25	chr3:134224200-134234000	Strong transcription	Dnd41	blood
26	chr3:134224400-134237600	Weak transcription	Fetal Brain Female	brain
27	chr3:134224600-134232600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr3:134224600-134232800	Weak transcription	Lung	lung
29	chr3:134224600-134236000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:134224600-134237600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:134224800-134232600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:134224800-134238800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr3:134224800-134241200	Weak transcription	Brain Germinal Matrix	brain
34	chr3:134224800-134245800	Weak transcription	Pancreas	Pancrea
35	chr3:134225000-134237600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:134225000-134255800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr3:134225200-134241200	Weak transcription	Fetal Kidney	kidney
38	chr3:134225200-134256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:134225400-134234000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr3:134225400-134235200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr3:134225800-134233000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:134226000-134234000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:134226200-134232800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr3:134226400-134241400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr3:134226600-134238800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:134227000-134235800	Weak transcription	NHDF-Ad	bronchial
47	chr3:134227400-134232600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:134228200-134235800	Weak transcription	HSMM	muscle
49	chr3:134228400-134235800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:134229400-134234600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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