Variant report

Variant	rs398676
Chromosome Location	chr9:102129593-102129594
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr9:102129389-102129729	GM12878	blood:	n/a	n/a
2	JUND	chr9:102129466-102129803	HepG2	liver:	n/a	chr9:102129638-102129649 chr9:102129639-102129649 chr9:102129639-102129648 chr9:102129638-102129650 chr9:102129640-102129649 chr9:102129640-102129647 chr9:102129640-102129648

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:102128251..102130553-chr9:102132131..102134825,3	K562	blood:

Variant related genes	Relation type
NAMA	TF binding region
ENSG00000271086	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10491654	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10739780	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10760680	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10819657	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1323470	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1555572	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555573	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626179	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1648636	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16918536	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs170461	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1746153	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs192965	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2281728	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2586563	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs323723	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs323724	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs323725	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs323726	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs323734	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs323735	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs398150	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs417512	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs439733	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4742768	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs696875	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs696876	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs701343	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs701344	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs701347	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs701349	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs701350	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7023945	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7024065	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7029079	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7030379	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7037489	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7038667	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871334	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs988245	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893620	chr9:102029791-102194921	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv831667	chr9:102068047-102285691	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1046898	chr9:102111890-102163313	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102114800-102131600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:102122800-102129800	Weak transcription	Right Ventricle	heart
3	chr9:102123400-102129800	Weak transcription	Left Ventricle	heart
4	chr9:102124400-102130200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr9:102125000-102130400	Weak transcription	Colon Smooth Muscle	Colon
6	chr9:102125600-102130200	Weak transcription	Fetal Brain Female	brain
7	chr9:102125800-102129600	Weak transcription	Fetal Thymus	thymus
8	chr9:102126200-102129800	Weak transcription	Fetal Brain Male	brain
9	chr9:102126600-102131000	Enhancers	Fetal Heart	heart
10	chr9:102126800-102130400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:102127200-102130400	Enhancers	GM12878-XiMat	blood
12	chr9:102127200-102130400	Enhancers	NHLF	lung
13	chr9:102127400-102129800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr9:102127400-102130400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:102127600-102130200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr9:102127600-102130200	Enhancers	NHDF-Ad	bronchial
17	chr9:102127600-102130600	Enhancers	Lung	lung
18	chr9:102127800-102129800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:102127800-102130400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:102127800-102130600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:102127800-102130600	Enhancers	Fetal Muscle Leg	muscle
22	chr9:102128200-102129600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:102128200-102130200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:102128200-102130800	Weak transcription	HMEC	breast
25	chr9:102128400-102129800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:102128400-102130200	Weak transcription	NH-A	brain
27	chr9:102128600-102130800	Enhancers	Psoas Muscle	Psoas
28	chr9:102128800-102129800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:102128800-102130400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:102128800-102130800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:102129000-102129800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:102129000-102129800	Weak transcription	Right Atrium	heart
33	chr9:102129000-102130200	Weak transcription	Osteobl	bone
34	chr9:102129000-102130400	Weak transcription	Placenta	Placenta
35	chr9:102129000-102130400	Enhancers	Ovary	ovary
36	chr9:102129000-102130400	Weak transcription	Pancreas	Pancrea
37	chr9:102129400-102129600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:102129400-102130400	Enhancers	Brain Hippocampus Middle	brain
39	chr9:102129400-102130600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr9:102129400-102131600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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