Variant report

Variant	rs9288811
Chromosome Location	chr3:105299778-105299779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1044243	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs1157	1.00[ASW][hapmap]
rs13315085	0.85[ASN][1000 genomes]
rs13315918	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs13317140	0.85[ASN][1000 genomes]
rs13320956	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs13322383	0.85[ASN][1000 genomes]
rs13325976	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.96[ASN][1000 genomes]
rs17181561	0.84[CEU][hapmap]
rs17181701	0.84[CEU][hapmap]
rs17189101	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs17189643	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs17189711	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs2291374	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs3772552	0.96[ASN][1000 genomes]
rs72989914	0.96[ASN][1000 genomes]
rs72989943	0.96[ASN][1000 genomes]
rs73006164	0.85[ASN][1000 genomes]
rs751554	1.00[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap]
rs7610031	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.96[ASN][1000 genomes]
rs7619149	0.96[ASN][1000 genomes]
rs7633779	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs7645474	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[ASN][1000 genomes]
rs9288807	0.84[CEU][hapmap]
rs9828587	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs9829190	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs9830049	0.96[ASN][1000 genomes]
rs9839346	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs9841699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs9842772	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.85[ASN][1000 genomes]
rs9842815	0.85[ASN][1000 genomes]
rs9843750	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.85[ASN][1000 genomes]
rs9847971	0.96[ASN][1000 genomes]
rs9851399	0.92[CEU][hapmap]
rs9855810	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.96[ASN][1000 genomes]
rs9859785	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.96[ASN][1000 genomes]
rs9862725	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs9870312	0.96[ASN][1000 genomes]
rs9873424	0.96[ASN][1000 genomes]
rs9876895	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.96[ASN][1000 genomes]
rs9876906	1.00[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap]
rs9878315	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs9882494	0.84[CEU][hapmap]
rs9990253	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[ASN][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	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	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
3	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
4	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
5	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
6	nsv1012669	chr3:105290140-105321201	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	miRNA target site	n/a	inside rSNPs	n/a
7	nsv877305	chr3:105298379-105362282	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2763727	chr3:105299778-105364508	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105221400-105300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:105260800-105299800	Weak transcription	Pancreas	Pancrea
3	chr3:105271600-105303000	Weak transcription	Aorta	Aorta
4	chr3:105272200-105312800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:105272400-105302800	Weak transcription	NHEK	skin
6	chr3:105273200-105303000	Weak transcription	HMEC	breast
7	chr3:105273400-105299800	Weak transcription	NHDF-Ad	bronchial
8	chr3:105274000-105303000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:105292000-105303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:105296800-105303200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:105297000-105303200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:105297800-105300000	Enhancers	Osteobl	bone
13	chr3:105298000-105300000	Enhancers	HSMM	muscle
14	chr3:105298000-105300200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:105299200-105299800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:105299200-105300000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:105299200-105300600	Enhancers	HSMMtube	muscle
18	chr3:105299600-105299800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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