Variant report

Variant	rs62532793
Chromosome Location	chr9:14351035-14351036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:14321896..14324157-chr9:14348528..14353248,4	K562	blood:
2	chr9:14321896..14323579-chr9:14349753..14351283,2	K562	blood:
3	chr9:14322189..14324402-chr9:14349942..14354025,4	MCF-7	breast:
4	chr9:14314923..14316806-chr9:14350655..14353274,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57582029	1.00[ASN][1000 genomes]
rs62532794	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62532795	1.00[ASN][1000 genomes]
rs62532797	1.00[ASN][1000 genomes]
rs62532798	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62532821	1.00[ASN][1000 genomes]
rs877569	1.00[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	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
2	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
3	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
4	nsv831516	chr9:14280695-14437445	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv526315	chr9:14347811-14362390	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14348800-14356000	Weak transcription	Gastric	stomach
2	chr9:14349400-14351400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr9:14349400-14353200	Weak transcription	Hela-S3	cervix
4	chr9:14349600-14353600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:14349800-14354000	Enhancers	HUVEC	blood vessel
6	chr9:14350000-14351400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:14350000-14353000	Weak transcription	Esophagus	oesophagus
8	chr9:14350000-14353400	Weak transcription	Pancreas	Pancrea
9	chr9:14350000-14354200	Enhancers	Fetal Heart	heart
10	chr9:14350200-14351200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:14350200-14353600	Enhancers	Left Ventricle	heart
12	chr9:14350400-14351400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr9:14350400-14351400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr9:14350400-14351600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr9:14350400-14352000	Bivalent Enhancer	NH-A	brain
16	chr9:14350400-14352400	Weak transcription	Placenta	Placenta
17	chr9:14350600-14351200	Flanking Active TSS	Fetal Muscle Trunk	muscle
18	chr9:14350600-14351200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr9:14350600-14351400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr9:14350600-14351600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:14350600-14351800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:14350600-14351800	Flanking Active TSS	Fetal Brain Female	brain
23	chr9:14350600-14352400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:14350600-14353000	Enhancers	Brain Substantia Nigra	brain
25	chr9:14350600-14353600	Enhancers	Right Ventricle	heart
26	chr9:14350800-14351200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
27	chr9:14350800-14351200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
28	chr9:14350800-14351200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr9:14350800-14351200	Enhancers	Spleen	Spleen
30	chr9:14350800-14351400	Enhancers	Psoas Muscle	Psoas
31	chr9:14350800-14351600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr9:14350800-14351800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr9:14350800-14353400	Enhancers	Brain Angular Gyrus	brain
34	chr9:14351000-14351200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
35	chr9:14351000-14351200	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
36	chr9:14351000-14351200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
37	chr9:14351000-14351200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
38	chr9:14351000-14351200	Bivalent Enhancer	Brain Germinal Matrix	brain
39	chr9:14351000-14351200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr9:14351000-14351200	Flanking Active TSS	HMEC	breast
41	chr9:14351000-14351400	Bivalent Enhancer	Fetal Lung	lung
42	chr9:14351000-14351400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr9:14351000-14351400	Flanking Active TSS	NHEK	skin
44	chr9:14351000-14351600	Flanking Active TSS	Fetal Brain Male	brain
45	chr9:14351000-14352000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
46	chr9:14351000-14352000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:14351000-14352000	Enhancers	Aorta	Aorta
48	chr9:14351000-14352600	Active TSS	Stomach Smooth Muscle	stomach
49	chr9:14351000-14353200	Enhancers	Brain Hippocampus Middle	brain
50	chr9:14351000-14353400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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