Variant report

Variant	rs62532553
Chromosome Location	chr9:14218106-14218107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:14207480..14210173-chr9:14216530..14218374,2	MCF-7	breast:
2	chr9:14214360..14220386-chr9:14311987..14316578,6	MCF-7	breast:
3	chr9:14211963..14213596-chr9:14216891..14219507,2	K562	blood:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs35402224	0.85[EUR][1000 genomes]
rs62532547	1.00[AFR][1000 genomes]
rs62532548	1.00[AFR][1000 genomes]
rs62532554	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14201200-14220000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:14203800-14219000	Weak transcription	Ovary	ovary
3	chr9:14203800-14221800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr9:14204000-14221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:14206200-14220000	Weak transcription	NHDF-Ad	bronchial
6	chr9:14208800-14221000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr9:14209800-14221000	Weak transcription	Fetal Stomach	stomach
8	chr9:14209800-14223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:14210000-14218200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:14210400-14218400	Weak transcription	Brain Hippocampus Middle	brain
11	chr9:14211800-14222200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr9:14212000-14220600	Weak transcription	Fetal Brain Male	brain
13	chr9:14212200-14218400	Weak transcription	HSMMtube	muscle
14	chr9:14212200-14221800	Weak transcription	Brain Anterior Caudate	brain
15	chr9:14214000-14218600	Weak transcription	Brain Germinal Matrix	brain
16	chr9:14214000-14220000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:14214200-14218400	Weak transcription	Colonic Mucosa	Colon
18	chr9:14214200-14222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:14214200-14222600	Enhancers	Osteobl	bone
20	chr9:14214400-14218400	Weak transcription	Aorta	Aorta
21	chr9:14214400-14220000	Weak transcription	Placenta	Placenta
22	chr9:14214400-14220800	Weak transcription	Lung	lung
23	chr9:14214400-14221000	Weak transcription	Gastric	stomach
24	chr9:14214400-14221200	Weak transcription	Fetal Brain Female	brain
25	chr9:14214400-14222200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr9:14214600-14218200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr9:14214800-14218800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr9:14215000-14221000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr9:14216000-14218200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr9:14216000-14218400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr9:14216000-14218400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr9:14216200-14219600	Weak transcription	HSMM	muscle
33	chr9:14216200-14221600	Enhancers	HUVEC	blood vessel
34	chr9:14216400-14220400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:14216400-14220600	Weak transcription	NHLF	lung
36	chr9:14216600-14218400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr9:14216600-14220000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:14216600-14220200	Weak transcription	Hela-S3	cervix
39	chr9:14216800-14218400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr9:14216800-14218400	Weak transcription	Pancreas	Pancrea
41	chr9:14216800-14218400	Weak transcription	Small Intestine	intestine
42	chr9:14216800-14220000	Weak transcription	Left Ventricle	heart
43	chr9:14216800-14220000	Weak transcription	Right Atrium	heart
44	chr9:14216800-14220800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:14217000-14218400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr9:14217000-14219000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:14217000-14219800	Weak transcription	NH-A	brain
48	chr9:14217000-14221000	Weak transcription	Liver	Liver
49	chr9:14217000-14221000	Enhancers	A549	lung
50	chr9:14217600-14221600	Enhancers	Fetal Heart	heart

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