Variant report

Variant	rs62532554
Chromosome Location	chr9:14223752-14223753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs35402224	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62532553	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62532556	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv892597	chr9:14163383-14233159	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr9:14220000-14224000	Enhancers	Pancreas	Pancrea
2	chr9:14220000-14224200	Enhancers	Left Ventricle	heart
3	chr9:14221000-14232000	Weak transcription	Fetal Brain Male	brain
4	chr9:14221200-14245600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:14221800-14230000	Weak transcription	Spleen	Spleen
6	chr9:14221800-14237400	Weak transcription	Aorta	Aorta
7	chr9:14221800-14237400	Weak transcription	Gastric	stomach
8	chr9:14222000-14224200	Enhancers	HUVEC	blood vessel
9	chr9:14222000-14232000	Weak transcription	Brain Germinal Matrix	brain
10	chr9:14222200-14224400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr9:14222200-14231200	Weak transcription	Fetal Brain Female	brain
12	chr9:14222200-14235200	Weak transcription	Fetal Intestine Small	intestine
13	chr9:14222400-14226200	Weak transcription	Fetal Stomach	stomach
14	chr9:14222400-14230800	Weak transcription	Fetal Lung	lung
15	chr9:14222400-14232000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr9:14222400-14235200	Weak transcription	Liver	Liver
17	chr9:14222400-14235400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:14222400-14236400	Weak transcription	HSMM	muscle
19	chr9:14222400-14236800	Weak transcription	NHLF	lung
20	chr9:14222400-14237200	Weak transcription	Stomach Mucosa	stomach
21	chr9:14222400-14237800	Weak transcription	NH-A	brain
22	chr9:14222400-14238000	Weak transcription	Placenta	Placenta
23	chr9:14222400-14240600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr9:14222600-14224000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr9:14222600-14224000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr9:14222600-14225000	Enhancers	A549	lung
27	chr9:14222600-14226400	Weak transcription	Lung	lung
28	chr9:14222600-14226800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr9:14222600-14231200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr9:14222600-14231400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:14222600-14231800	Weak transcription	Colon Smooth Muscle	Colon
32	chr9:14222600-14235200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr9:14222600-14235800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:14222600-14236400	Weak transcription	Psoas Muscle	Psoas
35	chr9:14222600-14236400	Weak transcription	HMEC	breast
36	chr9:14222600-14236800	Weak transcription	NHEK	skin
37	chr9:14222600-14237000	Weak transcription	Hela-S3	cervix
38	chr9:14222600-14238000	Weak transcription	Osteobl	bone
39	chr9:14222800-14223800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:14222800-14224400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr9:14222800-14226400	Weak transcription	Right Atrium	heart
42	chr9:14222800-14236800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:14223000-14225200	Strong transcription	Fetal Muscle Leg	muscle
44	chr9:14223000-14236400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:14223200-14236600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:14223400-14224000	Weak transcription	Small Intestine	intestine
47	chr9:14223400-14230800	Weak transcription	Right Ventricle	heart
48	chr9:14223600-14224800	Enhancers	Fetal Heart	heart

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