Variant report

Variant	rs5753380
Chromosome Location	chr22:31297852-31297853
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2285920	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2286214	1.00[YRI][hapmap]
rs4820922	0.86[ASN][1000 genomes]
rs56683450	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749190	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749205	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5753371	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753391	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753409	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753416	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5753425	0.81[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62236060	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62238089	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62238091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62238093	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62238094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62238096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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:92 , 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	chr22:31274200-31308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr22:31278400-31301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:31278800-31301600	Weak transcription	A549	lung
6	chr22:31283000-31306600	Weak transcription	Fetal Heart	heart
7	chr22:31283400-31304000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr22:31283600-31318400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr22:31284400-31308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:31284800-31306600	Weak transcription	Colonic Mucosa	Colon
11	chr22:31286400-31299200	Weak transcription	Liver	Liver
12	chr22:31286400-31304000	Weak transcription	Ovary	ovary
13	chr22:31287200-31299200	Weak transcription	Esophagus	oesophagus
14	chr22:31287400-31300400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr22:31288400-31316400	Weak transcription	Thymus	Thymus
16	chr22:31289400-31298600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:31290000-31305200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:31290000-31305200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:31290200-31298200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr22:31290200-31298600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr22:31290200-31299400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr22:31290200-31303800	Weak transcription	Gastric	stomach
23	chr22:31290200-31305000	Weak transcription	Pancreas	Pancrea
24	chr22:31290200-31308400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr22:31290400-31316600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr22:31290600-31298400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr22:31290600-31299400	Weak transcription	Right Ventricle	heart
28	chr22:31290600-31316200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr22:31290800-31320600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr22:31291000-31316200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr22:31291200-31298200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr22:31291200-31298200	Weak transcription	Brain Hippocampus Middle	brain
33	chr22:31291200-31298400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr22:31291200-31298400	Weak transcription	Brain Angular Gyrus	brain
35	chr22:31291200-31298600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr22:31291200-31299200	Weak transcription	Primary T cells from cord blood	blood
37	chr22:31291200-31299200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr22:31291200-31300000	Weak transcription	NHDF-Ad	bronchial
39	chr22:31291200-31302200	Weak transcription	Brain Substantia Nigra	brain
40	chr22:31291200-31302600	Weak transcription	K562	blood
41	chr22:31291200-31316200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr22:31291400-31298800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr22:31291400-31301800	Weak transcription	Placenta	Placenta
44	chr22:31291400-31315400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr22:31292400-31301400	Strong transcription	Fetal Intestine Large	intestine
46	chr22:31293800-31310200	Weak transcription	Hela-S3	cervix
47	chr22:31294200-31302400	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr22:31294400-31299000	Strong transcription	HSMM	muscle
49	chr22:31294800-31300800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr22:31294800-31309400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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