Variant report

Variant	rs62532760
Chromosome Location	chr9:14246939-14246940
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11789657	0.83[AMR][1000 genomes]
rs1322985	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1322986	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1322987	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv892598	chr9:14234315-14274950	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14238800-14249800	Weak transcription	Fetal Intestine Small	intestine
2	chr9:14238800-14250000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:14239800-14251200	Weak transcription	Hela-S3	cervix
4	chr9:14241000-14249800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:14241000-14250000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr9:14241200-14247000	Weak transcription	Fetal Stomach	stomach
7	chr9:14241200-14247200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr9:14241200-14247400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:14241200-14247400	Weak transcription	Brain Substantia Nigra	brain
10	chr9:14241200-14247600	Enhancers	Fetal Heart	heart
11	chr9:14241200-14247800	Weak transcription	Pancreas	Pancrea
12	chr9:14241200-14249600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:14241400-14247200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:14241400-14249800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr9:14241400-14251000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr9:14241400-14251000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr9:14241400-14251200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr9:14242800-14249400	Weak transcription	Brain Angular Gyrus	brain
19	chr9:14243800-14250000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr9:14244000-14251000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:14244000-14251200	Weak transcription	Fetal Brain Male	brain
22	chr9:14244200-14250200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr9:14244400-14250200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:14244600-14248800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:14245000-14247000	Weak transcription	Fetal Brain Female	brain
26	chr9:14245000-14247000	Enhancers	Osteobl	bone
27	chr9:14245200-14247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:14245200-14247600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:14245200-14250200	Weak transcription	Liver	Liver
30	chr9:14245400-14247000	Weak transcription	Brain Hippocampus Middle	brain
31	chr9:14245400-14247000	Weak transcription	Colon Smooth Muscle	Colon
32	chr9:14245600-14247600	Enhancers	Left Ventricle	heart
33	chr9:14245600-14249800	Weak transcription	Stomach Mucosa	stomach
34	chr9:14246000-14247400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:14246000-14247600	Enhancers	Right Ventricle	heart
36	chr9:14246000-14247600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr9:14246200-14247000	Enhancers	HUVEC	blood vessel
38	chr9:14246200-14247200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr9:14246200-14247600	Genic enhancers	Fetal Muscle Leg	muscle
40	chr9:14246200-14247600	Enhancers	Right Atrium	heart
41	chr9:14246200-14247600	Genic enhancers	HMEC	breast
42	chr9:14246200-14248800	Enhancers	Psoas Muscle	Psoas
43	chr9:14246200-14249600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:14246200-14250600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr9:14246400-14247000	Enhancers	HSMM	muscle
46	chr9:14246400-14247400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr9:14246400-14247600	Enhancers	Spleen	Spleen
48	chr9:14246400-14247800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr9:14246400-14249200	Weak transcription	A549	lung
50	chr9:14246400-14250400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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