Variant report

Variant	rs1952688
Chromosome Location	chr9:16782156-16782157
allele	A/G
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:31)

rs_ID	r²[population]
rs10116469	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10117034	0.82[EUR][1000 genomes]
rs10120138	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10122189	0.85[AMR][1000 genomes]
rs10122736	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10122827	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10123118	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10756810	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10810614	0.80[EUR][1000 genomes]
rs10810615	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10810617	0.80[AMR][1000 genomes]
rs10810622	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10810624	0.98[ASN][1000 genomes]
rs10810626	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10962569	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10962574	0.81[ASN][1000 genomes]
rs10962576	0.84[AMR][1000 genomes]
rs10962588	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10962589	0.98[ASN][1000 genomes]
rs10962592	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12238070	0.80[EUR][1000 genomes]
rs12341542	0.84[EUR][1000 genomes]
rs2039185	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2150089	0.84[AMR][1000 genomes]
rs28584140	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28626673	0.80[AMR][1000 genomes]
rs4246148	0.94[ASN][1000 genomes]
rs7024720	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73410488	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7855044	0.80[EUR][1000 genomes]
rs7855465	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16754000-16787000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:16762600-16786800	Weak transcription	NHLF	lung
3	chr9:16767600-16795400	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:16768000-16795000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:16769400-16782600	Weak transcription	Fetal Kidney	kidney
6	chr9:16769400-16784800	Weak transcription	Fetal Intestine Large	intestine
7	chr9:16769800-16784000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:16769800-16787600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:16769800-16795400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:16770000-16786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:16771600-16784000	Weak transcription	HSMM	muscle
12	chr9:16772400-16784400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:16773000-16795000	Weak transcription	HSMMtube	muscle
14	chr9:16773800-16785000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:16774000-16784200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr9:16774200-16783000	Weak transcription	Fetal Lung	lung
17	chr9:16774200-16787400	Weak transcription	NH-A	brain
18	chr9:16774600-16784000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr9:16775600-16784400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:16775800-16784600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr9:16776000-16782400	Weak transcription	Fetal Intestine Small	intestine
22	chr9:16776000-16786600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:16776000-16787600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr9:16776200-16784400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:16776200-16787400	Weak transcription	Osteobl	bone
26	chr9:16778400-16787400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:16778600-16782800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:16778800-16782400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr9:16778800-16782600	Weak transcription	Colon Smooth Muscle	Colon
30	chr9:16778800-16782600	Weak transcription	Fetal Stomach	stomach
31	chr9:16778800-16787200	Weak transcription	NHDF-Ad	bronchial
32	chr9:16779000-16784000	Weak transcription	Ovary	ovary
33	chr9:16779000-16787200	Weak transcription	Psoas Muscle	Psoas
34	chr9:16781400-16782600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:16781600-16784400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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