Variant report

Variant	rs9847823
Chromosome Location	chr3:105223930-105223931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1116976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1370888	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1438550	0.88[YRI][hapmap]
rs2035563	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4337659	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4521267	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs485593	1.00[AMR][1000 genomes]
rs568985	1.00[AMR][1000 genomes]
rs599278	0.94[LWK][hapmap];1.00[AMR][1000 genomes]
rs609294	1.00[AMR][1000 genomes]
rs635579	1.00[AMR][1000 genomes]
rs6437590	0.89[YRI][hapmap]
rs6437599	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs645676	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs6797358	0.88[YRI][hapmap]
rs7621611	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs975575	0.89[YRI][hapmap]
rs9865047	0.81[LWK][hapmap];0.85[MKK][hapmap];0.89[YRI][hapmap]
rs9870754	0.89[YRI][hapmap];0.92[AFR][1000 genomes];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	nsv525071	chr3:105004853-105409321	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv829650	chr3:105070893-105255036	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv534224	chr3:105141696-105404293	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv829651	chr3:105203424-105402136	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv460811	chr3:105212993-105316769	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv591240	chr3:105212993-105316769	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105210200-105229000	Weak transcription	HSMM	muscle
2	chr3:105210200-105243200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:105219600-105224000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr3:105221200-105224000	Enhancers	Brain Hippocampus Middle	brain
5	chr3:105221200-105224400	Enhancers	Brain Cingulate Gyrus	brain
6	chr3:105221400-105300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:105221600-105229800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:105221600-105231800	Weak transcription	NHLF	lung
9	chr3:105221800-105227600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:105222200-105224000	Flanking Active TSS	Liver	Liver
11	chr3:105222200-105260600	Weak transcription	Fetal Kidney	kidney
12	chr3:105222400-105225000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr3:105222400-105226800	Weak transcription	Brain Angular Gyrus	brain
14	chr3:105222600-105224400	Enhancers	Pancreas	Pancrea
15	chr3:105222600-105225600	Weak transcription	Brain Substantia Nigra	brain
16	chr3:105222600-105229000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:105222600-105230000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:105222800-105225200	Weak transcription	Brain Anterior Caudate	brain
19	chr3:105222800-105230400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:105222800-105231800	Weak transcription	NH-A	brain
21	chr3:105222800-105246000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:105223000-105224000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:105223000-105230000	Weak transcription	A549	lung
24	chr3:105223200-105224200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:105223600-105224000	Flanking Active TSS	HepG2	liver
26	chr3:105223800-105224000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr3:105223800-105224000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:105223800-105224000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr3:105223800-105224000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:105223800-105224000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:105223800-105224200	Weak transcription	Gastric	stomach
32	chr3:105223800-105224200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr3:105223800-105224400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr3:105223800-105224400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr3:105223800-105229000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr3:105223800-105274800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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