Variant report

Variant	rs12373961
Chromosome Location	chr22:33385612-33385613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33196563..33199846-chr22:33384873..33387711,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100234	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10222206	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10222241	0.81[AFR][1000 genomes]
rs11089596	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11089597	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1119511	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1119512	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12166853	0.85[AFR][1000 genomes]
rs12329983	1.00[AMR][1000 genomes]
rs16991605	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1988647	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56076355	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56095662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs695224	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7364251	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7364286	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8140502	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9619319	0.90[AFR][1000 genomes]
rs9619320	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9619322	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621606	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9621607	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9621608	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9621609	0.93[AFR][1000 genomes]
rs9621610	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621613	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9621614	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621619	1.00[AMR][1000 genomes]

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	chr22:33354600-33387400	Weak transcription	Fetal Brain Female	brain
2	chr22:33380800-33389200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr22:33381800-33386600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:33381800-33389200	Enhancers	HMEC	breast
5	chr22:33382000-33390200	Weak transcription	Right Atrium	heart
6	chr22:33382400-33387600	Weak transcription	NHDF-Ad	bronchial
7	chr22:33382400-33392400	Weak transcription	Lung	lung
8	chr22:33382400-33404200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr22:33382600-33387600	Weak transcription	Brain Angular Gyrus	brain
10	chr22:33382600-33387800	Weak transcription	Brain Substantia Nigra	brain
11	chr22:33382600-33387800	Weak transcription	Colon Smooth Muscle	Colon
12	chr22:33382600-33390400	Weak transcription	Right Ventricle	heart
13	chr22:33383200-33387600	Weak transcription	Fetal Heart	heart
14	chr22:33383400-33387400	Weak transcription	Adipose Nuclei	Adipose
15	chr22:33383400-33387400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr22:33383600-33386800	Weak transcription	Left Ventricle	heart
17	chr22:33383600-33387400	Weak transcription	Fetal Brain Male	brain
18	chr22:33383600-33387600	Weak transcription	Brain Anterior Caudate	brain
19	chr22:33383600-33387600	Weak transcription	Brain Hippocampus Middle	brain
20	chr22:33383600-33387600	Weak transcription	Fetal Lung	lung
21	chr22:33383600-33387600	Weak transcription	HSMM	muscle
22	chr22:33383600-33387800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr22:33383600-33387800	Weak transcription	Fetal Intestine Small	intestine
24	chr22:33383600-33393200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:33383800-33387400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:33383800-33387400	Weak transcription	Brain Germinal Matrix	brain
27	chr22:33383800-33387400	Weak transcription	Fetal Stomach	stomach
28	chr22:33383800-33387600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:33383800-33387600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr22:33383800-33387600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr22:33383800-33387600	Weak transcription	HSMMtube	muscle
32	chr22:33383800-33388200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr22:33383800-33389200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr22:33383800-33389200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr22:33383800-33390000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr22:33383800-33390400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:33383800-33392200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr22:33383800-33395800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr22:33384000-33387600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr22:33384000-33396200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr22:33384400-33385800	Enhancers	Placenta	Placenta
42	chr22:33384400-33390800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr22:33384600-33386200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr22:33384800-33386800	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr22:33384800-33394600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr22:33385000-33387400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr22:33385200-33386600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr22:33385200-33386600	Weak transcription	Fetal Muscle Leg	muscle
49	chr22:33385200-33387400	Weak transcription	Hela-S3	cervix
50	chr22:33385200-33390600	Weak transcription	Spleen	Spleen

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