Variant report

Variant	rs1952689
Chromosome Location	chr9:16723226-16723227
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10481558	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10756788	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10756789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10756790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10756796	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10756798	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10756801	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10810598	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10810601	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10810604	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10962548	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10962554	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10962559	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13284478	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13296274	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1330303	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62541515	0.86[AMR][1000 genomes];0.89[EUR][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:47 , 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	chr9:16719200-16725400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr9:16719200-16726000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr9:16720200-16726000	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:16720400-16724600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:16720400-16725400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr9:16720600-16725400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr9:16721400-16725000	Weak transcription	Hela-S3	cervix
13	chr9:16721600-16726800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:16722200-16726000	Weak transcription	Right Atrium	heart
15	chr9:16722400-16723400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:16722400-16723400	Enhancers	Rectal Smooth Muscle	rectum
17	chr9:16722400-16724000	Weak transcription	A549	lung
18	chr9:16722400-16724400	Weak transcription	Ovary	ovary
19	chr9:16722400-16725000	Weak transcription	HUVEC	blood vessel
20	chr9:16722400-16725600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr9:16722400-16725600	Weak transcription	NH-A	brain
22	chr9:16722400-16725800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:16722400-16725800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr9:16722400-16725800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:16722400-16725800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:16722400-16725800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:16722400-16725800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:16722400-16725800	Weak transcription	HSMMtube	muscle
29	chr9:16722400-16726000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr9:16722400-16726000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:16722400-16726000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr9:16722400-16726000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:16722400-16726000	Weak transcription	Adipose Nuclei	Adipose
34	chr9:16722400-16726000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr9:16722400-16726600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr9:16722600-16723800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr9:16722800-16723800	Weak transcription	Osteobl	bone
38	chr9:16722800-16724200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:16722800-16724200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:16722800-16724200	Weak transcription	Colon Smooth Muscle	Colon
41	chr9:16722800-16725200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:16722800-16725600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr9:16722800-16725800	Weak transcription	HSMM	muscle
44	chr9:16723000-16723600	Enhancers	NHLF	lung
45	chr9:16723000-16724000	Weak transcription	NHDF-Ad	bronchial
46	chr9:16723200-16725000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr9:16723200-16726000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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