Variant report

Variant	rs72704100
Chromosome Location	chr9:16692496-16692497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10810587	0.85[EUR][1000 genomes]
rs10962540	0.87[EUR][1000 genomes]
rs10962543	0.86[EUR][1000 genomes]
rs10962545	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12375507	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530934	chr9:16281246-16779432	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1032856	chr9:16465330-16773471	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv540073	chr9:16465330-16773471	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv2758627	chr9:16641966-16809203	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv2759673	chr9:16641966-16809203	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv892649	chr9:16677221-16761597	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1030598	chr9:16680138-16696510	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16665000-16704400	Weak transcription	Aorta	Aorta
2	chr9:16679600-16693600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:16679800-16704000	Weak transcription	HSMMtube	muscle
4	chr9:16680000-16704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:16688200-16700400	Weak transcription	HSMM	muscle
6	chr9:16689600-16692800	Weak transcription	Fetal Intestine Small	intestine
7	chr9:16689800-16693400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:16689800-16693400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:16689800-16693400	Weak transcription	Fetal Lung	lung
10	chr9:16689800-16699200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:16690000-16701000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr9:16690000-16702400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr9:16690000-16704200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr9:16690000-16704800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr9:16690200-16692600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr9:16690200-16693200	Weak transcription	Fetal Muscle Leg	muscle
17	chr9:16690200-16693400	Weak transcription	Colon Smooth Muscle	Colon
18	chr9:16690200-16702000	Weak transcription	NH-A	brain
19	chr9:16690400-16693400	Weak transcription	Fetal Stomach	stomach
20	chr9:16690400-16694400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:16690400-16701000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:16690400-16703800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr9:16690600-16695800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:16690600-16702200	Weak transcription	NHLF	lung
25	chr9:16690800-16693600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:16691000-16693400	Weak transcription	HUVEC	blood vessel
27	chr9:16691000-16694400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:16691000-16694400	Weak transcription	Ovary	ovary
29	chr9:16691000-16701400	Weak transcription	Osteobl	bone
30	chr9:16691000-16704800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:16691000-16708400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr9:16691200-16692600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr9:16691200-16694400	Weak transcription	A549	lung
34	chr9:16691200-16695200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:16691400-16692600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr9:16692400-16693600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:16692400-16695000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:16692400-16695200	Enhancers	HUES48 Cell Line	embryonic stem cell

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