Variant report

Variant	rs34240867
Chromosome Location	chr22:31289891-31289892
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	chr22:31275934..31283484-chr22:31284259..31290179,9	K562	blood:
2	chr22:31288265..31290834-chr22:31482128..31484552,2	K562	blood:

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12160486	1.00[ASN][1000 genomes]
rs34369042	1.00[ASN][1000 genomes]
rs35988107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41279971	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4820031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820912	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4820917	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4820920	1.00[ASN][1000 genomes]
rs4820931	1.00[ASN][1000 genomes]
rs5994357	1.00[ASN][1000 genomes]
rs5994363	1.00[ASN][1000 genomes]
rs5997799	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997818	1.00[ASN][1000 genomes]
rs5997850	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31265200-31299400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:31266400-31295200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr22:31274200-31308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr22:31277800-31295200	Weak transcription	Fetal Brain Male	brain
5	chr22:31278000-31290000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:31278400-31291800	Weak transcription	HMEC	breast
7	chr22:31278400-31292600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr22:31278400-31301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:31278800-31295000	Weak transcription	Small Intestine	intestine
11	chr22:31278800-31301600	Weak transcription	A549	lung
12	chr22:31282200-31294400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr22:31282800-31294200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr22:31283000-31290600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:31283000-31306600	Weak transcription	Fetal Heart	heart
16	chr22:31283200-31290000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr22:31283400-31290200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr22:31283400-31290200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:31283400-31290200	Strong transcription	Fetal Stomach	stomach
20	chr22:31283400-31290600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr22:31283400-31290800	Weak transcription	Colon Smooth Muscle	Colon
22	chr22:31283400-31291000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr22:31283400-31291200	Strong transcription	Brain Cingulate Gyrus	brain
24	chr22:31283400-31291200	Strong transcription	Brain Hippocampus Middle	brain
25	chr22:31283400-31291400	Strong transcription	Brain Germinal Matrix	brain
26	chr22:31283400-31291400	Strong transcription	Fetal Brain Female	brain
27	chr22:31283400-31291600	Strong transcription	Brain Anterior Caudate	brain
28	chr22:31283400-31304000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr22:31283600-31290200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr22:31283600-31290200	Strong transcription	Pancreas	Pancrea
31	chr22:31283600-31291000	Weak transcription	NHLF	lung
32	chr22:31283600-31291200	Strong transcription	Brain Substantia Nigra	brain
33	chr22:31283600-31292800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr22:31283600-31318400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr22:31284200-31290600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr22:31284200-31291800	Strong transcription	NHEK	skin
37	chr22:31284400-31308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr22:31284600-31293000	Strong transcription	Fetal Lung	lung
39	chr22:31284600-31295200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr22:31284800-31306600	Weak transcription	Colonic Mucosa	Colon
41	chr22:31285000-31290600	Strong transcription	Right Ventricle	heart
42	chr22:31285200-31291200	Strong transcription	Brain Angular Gyrus	brain
43	chr22:31285200-31295000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:31286200-31294000	Weak transcription	HepG2	liver
45	chr22:31286200-31294200	Weak transcription	Aorta	Aorta
46	chr22:31286400-31294400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr22:31286400-31299200	Weak transcription	Liver	Liver
48	chr22:31286400-31304000	Weak transcription	Ovary	ovary
49	chr22:31286600-31290200	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr22:31286800-31291200	Weak transcription	Adipose Nuclei	Adipose

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