Variant report

Variant	rs55866375
Chromosome Location	chr22:31023585-31023586
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12169435	1.00[EUR][1000 genomes]
rs60815431	1.00[EUR][1000 genomes]
rs67153574	0.92[EUR][1000 genomes]
rs7289904	0.92[EUR][1000 genomes]
rs73170819	0.92[EUR][1000 genomes]
rs8136373	0.92[EUR][1000 genomes]
rs8138797	0.84[EUR][1000 genomes]
rs9619126	1.00[EUR][1000 genomes]
rs9621053	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	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
3	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31003200-31031200	Weak transcription	Aorta	Aorta
2	chr22:31003800-31030600	Weak transcription	Thymus	Thymus
3	chr22:31006000-31030400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr22:31006000-31030600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:31006000-31030600	Weak transcription	Colonic Mucosa	Colon
6	chr22:31006200-31023800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr22:31006200-31030600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr22:31006600-31030400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr22:31006800-31030200	Weak transcription	Placenta	Placenta
10	chr22:31007000-31030600	Weak transcription	Fetal Brain Male	brain
11	chr22:31007600-31030200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr22:31008000-31030400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr22:31011600-31024400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr22:31011600-31026000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr22:31011800-31030200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:31011800-31030600	Weak transcription	Right Ventricle	heart
17	chr22:31012000-31023800	Weak transcription	Brain Anterior Caudate	brain
18	chr22:31012000-31030600	Weak transcription	Brain Angular Gyrus	brain
19	chr22:31012200-31024600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr22:31013600-31030600	Weak transcription	Pancreas	Pancrea
21	chr22:31013800-31030600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:31014000-31030200	Weak transcription	Brain Substantia Nigra	brain
23	chr22:31014000-31030400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr22:31014000-31030800	Weak transcription	Gastric	stomach
25	chr22:31014000-31030800	Weak transcription	Ovary	ovary
26	chr22:31015000-31024200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr22:31015800-31030600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:31015800-31030600	Weak transcription	Fetal Lung	lung
29	chr22:31017000-31024000	Weak transcription	Brain Germinal Matrix	brain
30	chr22:31017000-31030400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr22:31017000-31030600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr22:31017200-31030600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr22:31017800-31024000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr22:31019000-31030200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr22:31019200-31030200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr22:31019200-31030200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr22:31019200-31030600	Weak transcription	Colon Smooth Muscle	Colon
38	chr22:31019200-31030600	Weak transcription	Left Ventricle	heart
39	chr22:31019200-31030800	Weak transcription	Lung	lung
40	chr22:31019600-31024000	Weak transcription	Fetal Muscle Leg	muscle
41	chr22:31019600-31024200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr22:31021600-31024600	Weak transcription	Right Atrium	heart
43	chr22:31021600-31026400	Enhancers	Fetal Heart	heart
44	chr22:31022400-31025000	Enhancers	HUVEC	blood vessel
45	chr22:31022800-31024200	Weak transcription	Brain Hippocampus Middle	brain
46	chr22:31023000-31024600	Weak transcription	Fetal Intestine Large	intestine
47	chr22:31023000-31030600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr22:31023000-31030600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr22:31023000-31030600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr22:31023000-31030600	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links