Variant report

Variant	rs9609679
Chromosome Location	chr22:33388996-33388997
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:33262063-33266567..22:33387274-33389304	Hela-S3	cervix:
2	22:33190123-33206921..22:33387274-33389304	K562	blood:
3	chr22:33234675..33236559-chr22:33386766..33389702,2	MCF-7	breast:
4	22:32915608-32918105..22:33387274-33389304	Hela-S3	cervix:
5	chr22:33387629..33389228-chr22:33390616..33392277,2	MCF-7	breast:
6	22:32920308-32927723..22:33387274-33389304	GM12878	blood:
7	22:32292186-32294405..22:33387274-33389304	H1-hESC	embryonic stem cell:	embryo
8	chr22:32952823..32954629-chr22:33388460..33390492,2	MCF-7	breast:
9	22:32872511-32874561..22:33387274-33389304	Hela-S3	cervix:
10	chr22:33386658..33389072-chr22:33395353..33398273,2	MCF-7	breast:
11	chr22:33385978..33389779-chr22:33390514..33394605,9	MCF-7	breast:
12	22:32477762-32487457..22:33387274-33389304	Hela-S3	cervix:
13	22:32740683-32750950..22:33387274-33389304	Hela-S3	cervix:
14	22:32342898-32343477..22:33387274-33389304	Hela-S3	cervix:
15	22:32764253-32784733..22:33387274-33389304	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100150	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000100170	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000205853	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56841962	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9607004	0.80[JPT][hapmap]
rs9609677	0.90[ASN][1000 genomes]
rs9609678	0.82[JPT][hapmap]
rs9609680	0.86[JPT][hapmap];0.89[MEX][hapmap]
rs9609688	0.86[JPT][hapmap]
rs9609689	0.81[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap]
rs9609695	0.90[JPT][hapmap]
rs9609696	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9609679	CABP7	cis	parietal	SCAN
rs9609679	OSBP2	cis	cerebellum	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33380800-33389200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr22:33381800-33389200	Enhancers	HMEC	breast
3	chr22:33382000-33390200	Weak transcription	Right Atrium	heart
4	chr22:33382400-33392400	Weak transcription	Lung	lung
5	chr22:33382400-33404200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr22:33382600-33390400	Weak transcription	Right Ventricle	heart
7	chr22:33383600-33393200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:33383800-33389200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:33383800-33389200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr22:33383800-33390000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr22:33383800-33390400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:33383800-33392200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr22:33383800-33395800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr22:33384000-33396200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:33384400-33390800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:33384800-33394600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr22:33385200-33390600	Weak transcription	Spleen	Spleen
18	chr22:33385400-33390000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr22:33386200-33389200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr22:33386200-33397000	Enhancers	Placenta	Placenta
21	chr22:33386600-33389400	Enhancers	Fetal Muscle Trunk	muscle
22	chr22:33386600-33393600	Enhancers	Fetal Muscle Leg	muscle
23	chr22:33387400-33389000	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr22:33387400-33389200	Enhancers	NHEK	skin
25	chr22:33387400-33391200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr22:33387400-33391600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr22:33387400-33391600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr22:33387400-33391600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr22:33387600-33389600	Enhancers	Brain Anterior Caudate	brain
30	chr22:33387600-33391600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:33387600-33391600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr22:33387800-33389000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr22:33387800-33389200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr22:33387800-33390000	Weak transcription	Fetal Brain Female	brain
35	chr22:33387800-33391400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr22:33388000-33389800	Weak transcription	Fetal Heart	heart
37	chr22:33388000-33392800	Weak transcription	Brain Hippocampus Middle	brain
38	chr22:33388200-33389800	Weak transcription	Fetal Lung	lung
39	chr22:33388200-33396600	Weak transcription	Brain Substantia Nigra	brain
40	chr22:33388200-33396600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr22:33388200-33400000	Weak transcription	Brain Angular Gyrus	brain
42	chr22:33388400-33389000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr22:33388400-33389800	Weak transcription	Brain Germinal Matrix	brain
44	chr22:33388400-33390400	Weak transcription	Adipose Nuclei	Adipose
45	chr22:33388400-33390400	Weak transcription	Esophagus	oesophagus
46	chr22:33388400-33401000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr22:33388600-33389800	Weak transcription	Hela-S3	cervix
48	chr22:33388600-33390000	Weak transcription	Fetal Brain Male	brain
49	chr22:33388800-33390600	Weak transcription	Left Ventricle	heart

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