Variant report

Variant	rs73831561
Chromosome Location	chr3:48276409-48276410
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48276130..48279635-chr3:48281247..48284443,4	K562	blood:

Variant related genes	Relation type
ENSG00000164048	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11130161	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12633518	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1380053	0.81[AMR][1000 genomes]
rs34146962	0.81[EUR][1000 genomes]
rs34373799	0.81[EUR][1000 genomes]
rs3731532	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57994790	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58582477	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60305502	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73831563	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73831566	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv834682	chr3:48138137-48311122	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48265800-48277600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr3:48274000-48276600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr3:48274000-48277600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:48274000-48282400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:48274400-48277800	Weak transcription	Thymus	Thymus
6	chr3:48274600-48276800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:48274600-48277400	Weak transcription	Fetal Thymus	thymus
8	chr3:48274600-48277800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr3:48274600-48277800	Weak transcription	Esophagus	oesophagus
10	chr3:48274600-48277800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:48274600-48278000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:48274600-48278000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:48274600-48278000	Weak transcription	Spleen	Spleen
14	chr3:48274600-48278200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:48274600-48278400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:48274600-48281200	Weak transcription	Brain Germinal Matrix	brain
17	chr3:48274600-48281400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:48274600-48281800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr3:48274600-48282200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:48274600-48282200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr3:48274600-48282200	Weak transcription	Ovary	ovary
22	chr3:48274800-48277200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:48274800-48277400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:48274800-48278000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:48274800-48278000	Weak transcription	NHDF-Ad	bronchial
26	chr3:48274800-48278200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:48274800-48278200	Weak transcription	Adipose Nuclei	Adipose
28	chr3:48274800-48281200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:48274800-48282000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:48274800-48282000	Weak transcription	Brain Hippocampus Middle	brain
31	chr3:48274800-48282000	Weak transcription	HMEC	breast
32	chr3:48275000-48277200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:48275000-48282200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr3:48275200-48277400	Weak transcription	K562	blood
35	chr3:48275400-48276800	Weak transcription	HepG2	liver
36	chr3:48275400-48277800	Weak transcription	Primary B cells from cord blood	blood
37	chr3:48276000-48281800	Weak transcription	GM12878-XiMat	blood
38	chr3:48276200-48280200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:48276200-48281400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:48276400-48277800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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