Variant report

Variant	rs9816688
Chromosome Location	chr3:53170109-53170110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53160337..53170540-chr3:53189028..53198029,25	MCF-7	breast:
2	chr3:53163343..53166728-chr3:53167224..53170479,4	MCF-7	breast:
3	chr3:53160152..53162531-chr3:53170013..53171718,2	K562	blood:
4	chr3:53162508..53166145-chr3:53169616..53173018,3	K562	blood:

Variant related genes	Relation type
ENSG00000163933	Chromatin interaction
ENSG00000163932	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13326633	1.00[YRI][hapmap]
rs9848885	1.00[AMR][1000 genomes]
rs9872281	0.80[YRI][hapmap]
rs9876869	1.00[YRI][hapmap];1.00[AMR][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	nsv590356	chr3:53134098-53170500	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	nsv460553	chr3:53147576-53185061	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
3	nsv590357	chr3:53147576-53185061	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv3381848	chr3:53167712-53172310	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53164800-53170600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:53165000-53176200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:53165000-53176400	Weak transcription	Aorta	Aorta
4	chr3:53165400-53173800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:53165400-53176000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:53165600-53170800	Weak transcription	Fetal Thymus	thymus
7	chr3:53165600-53173400	Weak transcription	Gastric	stomach
8	chr3:53165600-53174200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:53165600-53174200	Weak transcription	Fetal Heart	heart
10	chr3:53165600-53174200	Weak transcription	Left Ventricle	heart
11	chr3:53165600-53174600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:53165600-53177800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:53165600-53181400	Weak transcription	Spleen	Spleen
14	chr3:53165800-53170600	Weak transcription	GM12878-XiMat	blood
15	chr3:53165800-53175400	Weak transcription	Placenta	Placenta
16	chr3:53166200-53174600	Weak transcription	Primary B cells from cord blood	blood
17	chr3:53166400-53170200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:53166400-53171200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr3:53167200-53174400	Weak transcription	HMEC	breast
20	chr3:53167600-53170200	Enhancers	Adipose Nuclei	Adipose
21	chr3:53168400-53170200	Weak transcription	HepG2	liver
22	chr3:53168400-53170800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr3:53168800-53170800	Enhancers	Esophagus	oesophagus
24	chr3:53169000-53170600	Weak transcription	Lung	lung
25	chr3:53169000-53173800	Weak transcription	Right Atrium	heart
26	chr3:53169200-53173000	Weak transcription	Liver	Liver
27	chr3:53169200-53173200	Weak transcription	Pancreas	Pancrea
28	chr3:53169200-53173400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:53169200-53174200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr3:53169200-53174400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:53169200-53174600	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:53169200-53176200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:53169200-53179000	Weak transcription	Fetal Lung	lung
34	chr3:53169200-53183800	Weak transcription	Right Ventricle	heart
35	chr3:53169400-53170600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr3:53169400-53171400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr3:53169400-53171600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr3:53169400-53174400	Weak transcription	Hela-S3	cervix
39	chr3:53170000-53170400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:53170000-53170800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:53170000-53174200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr3:53170000-53174400	Weak transcription	Stomach Mucosa	stomach
43	chr3:53170000-53174600	Weak transcription	Duodenum Mucosa	Duodenum

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