Variant report

Variant	rs714023
Chromosome Location	chr22:31305842-31305843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11913790	1.00[ASN][1000 genomes]
rs41279973	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753431	1.00[ASN][1000 genomes]
rs5997854	1.00[ASN][1000 genomes]
rs7285842	1.00[ASN][1000 genomes]
rs7285906	1.00[ASN][1000 genomes]
rs7292118	1.00[AFR][1000 genomes]
rs9621105	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31274200-31308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31283000-31306600	Weak transcription	Fetal Heart	heart
4	chr22:31283600-31318400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr22:31284400-31308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:31284800-31306600	Weak transcription	Colonic Mucosa	Colon
7	chr22:31288400-31316400	Weak transcription	Thymus	Thymus
8	chr22:31290200-31308400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr22:31290400-31316600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr22:31290600-31316200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr22:31290800-31320600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr22:31291000-31316200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr22:31291200-31316200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr22:31291400-31315400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr22:31293800-31310200	Weak transcription	Hela-S3	cervix
16	chr22:31294800-31309400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr22:31295400-31321000	Weak transcription	HSMMtube	muscle
18	chr22:31296200-31309000	Weak transcription	Left Ventricle	heart
19	chr22:31296800-31310600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr22:31297400-31309400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:31298400-31306600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr22:31299200-31309800	Weak transcription	Primary B cells from cord blood	blood
23	chr22:31299600-31308800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr22:31299600-31316600	Weak transcription	NHEK	skin
25	chr22:31299800-31307600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr22:31299800-31317000	Weak transcription	Brain Angular Gyrus	brain
27	chr22:31300000-31307200	Weak transcription	GM12878-XiMat	blood
28	chr22:31300200-31307800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr22:31300200-31308600	Weak transcription	Esophagus	oesophagus
30	chr22:31300200-31308800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr22:31300200-31308800	Weak transcription	Right Ventricle	heart
32	chr22:31300200-31316200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr22:31300200-31320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr22:31300400-31307200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:31300400-31309000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:31300400-31311600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr22:31300400-31311800	Weak transcription	Adipose Nuclei	Adipose
38	chr22:31300800-31311600	Weak transcription	Liver	Liver
39	chr22:31301400-31308200	Weak transcription	Fetal Intestine Large	intestine
40	chr22:31301600-31306000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr22:31301800-31306600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:31301800-31306800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr22:31302600-31307200	Weak transcription	Spleen	Spleen
44	chr22:31302800-31308400	Weak transcription	Brain Substantia Nigra	brain
45	chr22:31303000-31307800	Weak transcription	Fetal Brain Female	brain
46	chr22:31303200-31306400	Weak transcription	Fetal Brain Male	brain
47	chr22:31303600-31306200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr22:31303600-31307400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr22:31303800-31306000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr22:31303800-31306400	Strong transcription	Primary T cells fromperipheralblood	blood

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