Variant report

Variant	rs2225327
Chromosome Location	chr9:16721238-16721239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10283606	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10733317	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10738450	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10738453	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10738454	0.82[ASN][1000 genomes]
rs10756791	0.93[ASN][1000 genomes]
rs10756795	0.81[AMR][1000 genomes]
rs10810597	0.93[ASN][1000 genomes]
rs1330302	0.82[ASN][1000 genomes]
rs1361074	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1361076	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1411429	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1411430	0.82[ASN][1000 genomes]
rs1537004	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1544103	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1854694	0.82[ASN][1000 genomes]
rs2150090	0.82[ASN][1000 genomes]
rs2183408	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2210104	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2840290	0.82[ASN][1000 genomes]
rs3850446	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3850447	0.82[ASN][1000 genomes]
rs3904154	0.82[ASN][1000 genomes]
rs4626704	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5015540	0.84[AMR][1000 genomes]
rs7022131	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7029546	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7040406	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7042146	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[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	nsv892650	chr9:16696187-16950860	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer 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

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16709000-16726000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr9:16709600-16725800	Weak transcription	Fetal Stomach	stomach
3	chr9:16711400-16726600	Weak transcription	Psoas Muscle	Psoas
4	chr9:16713200-16725800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:16713200-16726600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:16714200-16722000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:16714200-16722000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:16714400-16722200	Enhancers	NHDF-Ad	bronchial
9	chr9:16716600-16721800	Weak transcription	NHLF	lung
10	chr9:16717600-16721800	Enhancers	Colon Smooth Muscle	Colon
11	chr9:16718000-16721400	Enhancers	Ovary	ovary
12	chr9:16718000-16722200	Enhancers	Fetal Lung	lung
13	chr9:16718000-16722400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:16718400-16721400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:16718600-16722000	Enhancers	Rectal Smooth Muscle	rectum
16	chr9:16719000-16722400	Enhancers	NH-A	brain
17	chr9:16719200-16722000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr9:16719200-16725400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr9:16719200-16726000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr9:16719400-16721400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:16719400-16721400	Enhancers	Hela-S3	cervix
22	chr9:16719400-16721800	Weak transcription	Right Atrium	heart
23	chr9:16719600-16721600	Weak transcription	HSMMtube	muscle
24	chr9:16719800-16721600	Weak transcription	Adipose Nuclei	Adipose
25	chr9:16720000-16722400	Flanking Active TSS	HUVEC	blood vessel
26	chr9:16720200-16722400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:16720200-16726000	Weak transcription	Fetal Muscle Leg	muscle
28	chr9:16720400-16721400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr9:16720400-16721600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:16720400-16721800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr9:16720400-16721800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr9:16720400-16721800	Enhancers	A549	lung
33	chr9:16720400-16722000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr9:16720400-16724600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:16720400-16725400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr9:16720600-16722000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr9:16720600-16722000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr9:16720600-16722000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:16720600-16722400	Flanking Active TSS	Osteobl	bone
40	chr9:16720600-16725400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr9:16720800-16721800	Enhancers	HSMM	muscle
42	chr9:16721000-16721400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:16721000-16721400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr9:16721000-16721600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:16721000-16721600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:16721000-16722000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:16721200-16721800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr9:16721200-16722000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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