Variant report

Variant	rs62532794
Chromosome Location	chr9:14353050-14353051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:14320247..14323923-chr9:14351044..14354091,4	MCF-7	breast:
2	chr9:14321896..14324157-chr9:14348528..14353248,4	K562	blood:
3	chr9:14351764..14354582-chr9:14354595..14356619,2	MCF-7	breast:
4	chr9:14312742..14317142-chr9:14351600..14355327,7	MCF-7	breast:
5	chr9:14322189..14324402-chr9:14349942..14354025,4	MCF-7	breast:
6	chr9:14314923..14316806-chr9:14350655..14353274,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction
ENSG00000225472	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]
rs62532793	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62532795	1.00[ASN][1000 genomes]
rs62532797	1.00[ASN][1000 genomes]
rs62532798	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14348800-14356000	Weak transcription	Gastric	stomach
2	chr9:14349400-14353200	Weak transcription	Hela-S3	cervix
3	chr9:14349600-14353600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:14349800-14354000	Enhancers	HUVEC	blood vessel
5	chr9:14350000-14353400	Weak transcription	Pancreas	Pancrea
6	chr9:14350000-14354200	Enhancers	Fetal Heart	heart
7	chr9:14350200-14353600	Enhancers	Left Ventricle	heart
8	chr9:14350600-14353600	Enhancers	Right Ventricle	heart
9	chr9:14350800-14353400	Enhancers	Brain Angular Gyrus	brain
10	chr9:14351000-14353200	Enhancers	Brain Hippocampus Middle	brain
11	chr9:14351000-14353400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:14351000-14353400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr9:14351000-14353400	Enhancers	Right Atrium	heart
14	chr9:14351400-14353400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr9:14351400-14353600	Enhancers	NHEK	skin
16	chr9:14351600-14353400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:14351600-14353400	Weak transcription	A549	lung
18	chr9:14351800-14353600	Flanking Active TSS	Fetal Lung	lung
19	chr9:14352200-14353400	Enhancers	Brain Germinal Matrix	brain
20	chr9:14352200-14353400	Enhancers	Fetal Muscle Trunk	muscle
21	chr9:14352200-14353400	Bivalent Enhancer	NH-A	brain
22	chr9:14352200-14354000	Enhancers	HMEC	breast
23	chr9:14352400-14353400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr9:14352400-14353400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr9:14352400-14353400	Enhancers	Fetal Muscle Leg	muscle
26	chr9:14352400-14353600	Flanking Active TSS	Fetal Brain Female	brain
27	chr9:14352400-14353600	Enhancers	Lung	lung
28	chr9:14352400-14353600	Enhancers	Psoas Muscle	Psoas
29	chr9:14352400-14353800	Enhancers	Placenta	Placenta
30	chr9:14352400-14354000	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr9:14352400-14354000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr9:14352600-14353600	Bivalent Enhancer	HepG2	liver
33	chr9:14352600-14353800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
34	chr9:14352600-14354000	Flanking Active TSS	Fetal Brain Male	brain
35	chr9:14352600-14354000	Enhancers	Fetal Stomach	stomach
36	chr9:14352800-14353200	Weak transcription	Aorta	Aorta
37	chr9:14352800-14353200	Enhancers	Colon Smooth Muscle	Colon
38	chr9:14352800-14353200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr9:14352800-14353200	Enhancers	Stomach Smooth Muscle	stomach
40	chr9:14352800-14353400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
41	chr9:14352800-14353400	Enhancers	Brain Cingulate Gyrus	brain
42	chr9:14352800-14353800	Enhancers	Duodenum Mucosa	Duodenum
43	chr9:14353000-14353200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:14353000-14353400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
45	chr9:14353000-14353400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:14353000-14353400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:14353000-14353400	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr9:14353000-14353600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr9:14353000-14353600	Enhancers	Esophagus	oesophagus
50	chr9:14353000-14353800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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