Variant report

Variant	rs10965040
Chromosome Location	chr9:21499299-21499300
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10491567	0.91[ASN][1000 genomes]
rs10757224	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10811546	0.92[CHB][hapmap]
rs10811551	1.00[CHB][hapmap]
rs10811555	0.92[ASN][1000 genomes]
rs10811556	0.92[ASN][1000 genomes]
rs10811557	0.92[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap];0.90[MEX][hapmap]
rs10964990	0.85[CHB][hapmap]
rs10965008	0.92[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs10965020	0.84[CHB][hapmap]
rs10965021	0.92[CHB][hapmap]
rs10965022	0.92[CHB][hapmap]
rs10965023	0.92[CHB][hapmap]
rs10965029	0.85[ASN][1000 genomes]
rs10965031	0.86[ASN][1000 genomes]
rs10965037	0.92[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs10965041	0.98[ASN][1000 genomes]
rs10965049	0.93[CEU][hapmap];0.86[MEX][hapmap]
rs12236551	0.85[CHB][hapmap]
rs1412396	0.92[CHB][hapmap]
rs1412397	0.85[CHB][hapmap]
rs16938434	0.83[ASN][1000 genomes]
rs16938435	0.98[ASN][1000 genomes]
rs7032680	0.92[ASN][1000 genomes]
rs7034161	0.92[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.83[ASN][1000 genomes]
rs7048384	0.92[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
2	esv2752289	chr9:21361957-21499624	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv466297	chr9:21391698-21507589	Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv613758	chr9:21391698-21507589	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1030064	chr9:21455760-21524674	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	111 gene(s)	inside rSNPs	diseases
6	nsv1020445	chr9:21464962-21524162	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	109 gene(s)	inside rSNPs	diseases
7	nsv1020232	chr9:21464962-21524999	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	110 gene(s)	inside rSNPs	diseases
8	nsv892740	chr9:21471499-21551513	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	110 gene(s)	inside rSNPs	diseases
9	nsv1031432	chr9:21472601-21608774	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
10	nsv540085	chr9:21472601-21608774	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21463000-21502200	Weak transcription	HSMM	muscle
2	chr9:21466000-21527600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:21471600-21505600	Weak transcription	HUVEC	blood vessel
4	chr9:21477000-21505800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:21479600-21505000	Weak transcription	NHLF	lung
6	chr9:21481800-21500000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:21481800-21504800	Weak transcription	NHDF-Ad	bronchial
8	chr9:21481800-21505000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:21482000-21504800	Weak transcription	NHEK	skin
10	chr9:21483200-21501200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:21483200-21502200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr9:21483200-21504800	Weak transcription	HMEC	breast
13	chr9:21487200-21500600	Weak transcription	Osteobl	bone
14	chr9:21494200-21503600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:21494400-21499400	Weak transcription	Fetal Intestine Small	intestine
16	chr9:21494800-21527600	Weak transcription	Gastric	stomach
17	chr9:21497400-21500000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:21498200-21500000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:21498600-21499400	Enhancers	Stomach Mucosa	stomach
20	chr9:21498800-21500800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr9:21499000-21500800	Enhancers	A549	lung
22	chr9:21499200-21503600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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