Variant report

Variant	rs9619323
Chromosome Location	chr22:33392487-33392488
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33385978..33389779-chr22:33390514..33394605,9	MCF-7	breast:
2	chr22:33196518..33199215-chr22:33391329..33394427,4	MCF-7	breast:
3	22:32920308-32927723..22:33389304-33403028	K562	blood:
4	chr22:33196410..33199341-chr22:33390721..33395867,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100234	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1005664	1.00[CEU][hapmap]
rs10222253	1.00[CEU][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs10222305	0.85[AFR][1000 genomes]
rs11089597	1.00[CEU][hapmap]
rs11089602	1.00[CEU][hapmap]
rs1119511	1.00[CEU][hapmap]
rs1119512	1.00[CEU][hapmap]
rs12167310	1.00[CEU][hapmap]
rs12168142	1.00[CEU][hapmap]
rs133932	0.99[AFR][1000 genomes]
rs16991580	1.00[CEU][hapmap];0.88[AFR][1000 genomes]
rs56095662	0.80[AFR][1000 genomes]
rs5754327	1.00[CEU][hapmap]
rs5998651	1.00[CEU][hapmap]
rs5998653	1.00[CEU][hapmap]
rs5998658	1.00[CEU][hapmap]
rs7285055	1.00[CEU][hapmap]
rs7287344	0.87[AFR][1000 genomes]
rs8140502	1.00[CEU][hapmap]
rs9619322	1.00[CEU][hapmap]
rs9621578	1.00[CEU][hapmap]
rs9621599	1.00[CEU][hapmap]
rs9621600	1.00[CEU][hapmap]
rs9621606	1.00[CEU][hapmap]
rs9621608	1.00[CEU][hapmap]
rs9621609	1.00[CEU][hapmap]
rs9621610	1.00[CEU][hapmap]
rs9621615	1.00[CEU][hapmap]
rs9621622	1.00[CEU][hapmap]
rs9621627	1.00[CEU][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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33382400-33404200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr22:33383600-33393200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:33383800-33395800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:33384000-33396200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:33384800-33394600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr22:33386200-33397000	Enhancers	Placenta	Placenta
7	chr22:33386600-33393600	Enhancers	Fetal Muscle Leg	muscle
8	chr22:33388000-33392800	Weak transcription	Brain Hippocampus Middle	brain
9	chr22:33388200-33396600	Weak transcription	Brain Substantia Nigra	brain
10	chr22:33388200-33396600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr22:33388200-33400000	Weak transcription	Brain Angular Gyrus	brain
12	chr22:33388400-33401000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr22:33389600-33396600	Weak transcription	Brain Anterior Caudate	brain
14	chr22:33389800-33393600	Enhancers	Hela-S3	cervix
15	chr22:33390800-33396200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:33390800-33399800	Weak transcription	Fetal Brain Female	brain
17	chr22:33391000-33393400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr22:33391000-33395800	Weak transcription	Brain Germinal Matrix	brain
19	chr22:33391000-33396400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:33391200-33392800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr22:33391200-33392800	Weak transcription	Left Ventricle	heart
22	chr22:33391200-33395400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr22:33391200-33395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr22:33391200-33395800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr22:33391200-33396400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:33391200-33396400	Weak transcription	Fetal Brain Male	brain
27	chr22:33391400-33395400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr22:33391600-33392600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr22:33391600-33392800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:33391600-33395000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr22:33391600-33395200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr22:33391600-33396400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr22:33391600-33396400	Weak transcription	Fetal Lung	lung
34	chr22:33391600-33399800	Weak transcription	HepG2	liver
35	chr22:33391800-33395800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr22:33391800-33398400	Enhancers	HMEC	breast
37	chr22:33392000-33392600	Enhancers	NHEK	skin
38	chr22:33392000-33393600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr22:33392000-33395200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr22:33392000-33395400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr22:33392200-33393000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr22:33392200-33393400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr22:33392200-33393400	Enhancers	Adipose Nuclei	Adipose
44	chr22:33392200-33393400	Enhancers	Right Atrium	heart
45	chr22:33392200-33393600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr22:33392200-33395200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr22:33392400-33392600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr22:33392400-33392600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr22:33392400-33392800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr22:33392400-33393000	Enhancers	Fetal Heart	heart

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