Variant report

Variant	rs2267323
Chromosome Location	chr22:34314841-34314842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:34314767-34315211	GM12878	blood:	n/a	n/a
2	SIN3A	chr22:34313786-34316435	H1-hESC	embryonic stem cell:	n/a	chr22:34316084-34316093 chr22:34316219-34316228

No.	Distal block	Cell Line	Cell type
1	chr22:34297092..34298993-chr22:34314365..34316257,2	MCF-7	breast:
2	chr22:34269243..34272868-chr22:34312880..34316299,3	MCF-7	breast:
3	chr22:34296673..34299632-chr22:34313962..34315661,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273082	TF binding region
ENSG00000133424	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12157286	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4140659	0.83[EUR][1000 genomes]
rs4821203	0.99[EUR][1000 genomes]
rs5754759	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5994813	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5999146	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999147	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999149	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5999152	0.89[EUR][1000 genomes]
rs6518844	0.89[EUR][1000 genomes]
rs8136925	0.89[EUR][1000 genomes]
rs9621807	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34293800-34315000	Weak transcription	Pancreas	Pancrea
2	chr22:34306400-34315000	Weak transcription	NHLF	lung
3	chr22:34307000-34315200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:34308200-34315000	Weak transcription	Brain Substantia Nigra	brain
5	chr22:34311800-34315000	Enhancers	Fetal Brain Male	brain
6	chr22:34312800-34315400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:34313000-34315200	Active TSS	Brain Anterior Caudate	brain
8	chr22:34313200-34315200	Enhancers	Fetal Lung	lung
9	chr22:34313600-34315000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr22:34313600-34315400	Enhancers	Stomach Mucosa	stomach
11	chr22:34313600-34315800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:34313600-34315800	Flanking Active TSS	Fetal Brain Female	brain
13	chr22:34313600-34319000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:34313800-34315000	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr22:34313800-34315000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr22:34313800-34315000	Enhancers	Psoas Muscle	Psoas
17	chr22:34313800-34315200	Enhancers	Liver	Liver
18	chr22:34313800-34315200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:34313800-34315400	Flanking Active TSS	HepG2	liver
20	chr22:34313800-34315800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr22:34313800-34316400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr22:34313800-34319200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr22:34314000-34315000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr22:34314000-34315000	Active TSS	Colon Smooth Muscle	Colon
25	chr22:34314000-34315400	Active TSS	Brain Hippocampus Middle	brain
26	chr22:34314000-34315400	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr22:34314000-34319000	Active TSS	Right Atrium	heart
28	chr22:34314200-34315000	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr22:34314200-34315000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr22:34314200-34315000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:34314200-34315200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:34314200-34315400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr22:34314200-34315400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:34314200-34315400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr22:34314200-34316200	Active TSS	Fetal Kidney	kidney
36	chr22:34314200-34316400	Active TSS	Brain Angular Gyrus	brain
37	chr22:34314200-34318400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:34314200-34319000	Active TSS	Left Ventricle	heart
39	chr22:34314400-34315200	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr22:34314400-34315200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
41	chr22:34314400-34315200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr22:34314400-34315200	Enhancers	Colonic Mucosa	Colon
43	chr22:34314400-34315400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr22:34314400-34316000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr22:34314400-34316400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr22:34314600-34315000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr22:34314600-34315000	Enhancers	Adipose Nuclei	Adipose
48	chr22:34314600-34315000	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr22:34314600-34315000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr22:34314600-34315000	Active TSS	Rectal Mucosa Donor 31	rectum

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