Variant report

Variant	rs13057127
Chromosome Location	chr22:31020975-31020976
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10418	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703570	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13054505	0.85[ASN][1000 genomes]
rs13054912	0.97[ASN][1000 genomes]
rs13055009	0.90[ASN][1000 genomes]
rs13056378	0.88[ASN][1000 genomes]
rs1544468	0.99[ASN][1000 genomes]
rs2003503	0.91[ASN][1000 genomes]
rs2078973	0.84[ASN][1000 genomes]
rs2301955	0.91[ASN][1000 genomes]
rs2301957	0.91[ASN][1000 genomes]
rs2301958	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4340628	0.93[ASN][1000 genomes]
rs4353747	1.00[ASN][1000 genomes]
rs4820888	0.87[ASN][1000 genomes]
rs4820890	0.90[ASN][1000 genomes]
rs56132790	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749132	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs5749134	0.83[ASN][1000 genomes]
rs5749135	0.83[ASN][1000 genomes]
rs5749137	0.90[ASN][1000 genomes]
rs5749142	1.00[ASN][1000 genomes]
rs5749143	1.00[ASN][1000 genomes]
rs5749145	1.00[ASN][1000 genomes]
rs5749148	0.92[ASN][1000 genomes]
rs5753234	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs5753246	0.89[ASN][1000 genomes]
rs5753247	0.85[ASN][1000 genomes]
rs5753249	0.90[ASN][1000 genomes]
rs5753257	1.00[ASN][1000 genomes]
rs5753258	0.86[ASN][1000 genomes]
rs5753260	0.90[ASN][1000 genomes]
rs5997703	0.83[ASN][1000 genomes]
rs5997709	0.99[ASN][1000 genomes]
rs5997710	0.99[ASN][1000 genomes]
rs5997726	0.85[ASN][1000 genomes]
rs5997727	0.85[ASN][1000 genomes]
rs7286680	0.91[ASN][1000 genomes]
rs7289553	1.00[ASN][1000 genomes]
rs731990	1.00[ASN][1000 genomes]
rs731991	1.00[ASN][1000 genomes]
rs740233	0.83[ASN][1000 genomes]
rs740235	0.83[ASN][1000 genomes]
rs757030	0.81[ASN][1000 genomes]
rs8138932	0.91[ASN][1000 genomes]
rs9621047	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	esv3359938	chr22:31018577-31021325	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3418806	chr22:31018952-31021050	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:67 , 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	chr22:31005000-31022200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr22:31006000-31023200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:31006000-31023200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:31006000-31030400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr22:31006000-31030600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:31006000-31030600	Weak transcription	Colonic Mucosa	Colon
9	chr22:31006200-31023800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr22:31006200-31030600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr22:31006400-31023000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr22:31006400-31023200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:31006400-31023400	Strong transcription	Fetal Intestine Small	intestine
14	chr22:31006600-31030400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr22:31006800-31030200	Weak transcription	Placenta	Placenta
16	chr22:31007000-31030600	Weak transcription	Fetal Brain Male	brain
17	chr22:31007600-31030200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:31008000-31030400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr22:31008400-31023200	Strong transcription	Adipose Nuclei	Adipose
20	chr22:31010200-31022400	Weak transcription	HUVEC	blood vessel
21	chr22:31011600-31024400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:31011600-31026000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr22:31011800-31030200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:31011800-31030600	Weak transcription	Right Ventricle	heart
25	chr22:31012000-31023800	Weak transcription	Brain Anterior Caudate	brain
26	chr22:31012000-31030600	Weak transcription	Brain Angular Gyrus	brain
27	chr22:31012200-31024600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr22:31013000-31023200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr22:31013600-31030600	Weak transcription	Pancreas	Pancrea
30	chr22:31013800-31022400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr22:31013800-31022600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr22:31013800-31030600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr22:31014000-31030200	Weak transcription	Brain Substantia Nigra	brain
34	chr22:31014000-31030400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr22:31014000-31030800	Weak transcription	Gastric	stomach
36	chr22:31014000-31030800	Weak transcription	Ovary	ovary
37	chr22:31015000-31024200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr22:31015800-31030600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:31015800-31030600	Weak transcription	Fetal Lung	lung
40	chr22:31016000-31022000	Weak transcription	Fetal Intestine Large	intestine
41	chr22:31017000-31024000	Weak transcription	Brain Germinal Matrix	brain
42	chr22:31017000-31030400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr22:31017000-31030600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr22:31017200-31030600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr22:31017600-31021800	Weak transcription	Brain Hippocampus Middle	brain
46	chr22:31017800-31024000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr22:31018800-31023000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr22:31019000-31021800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr22:31019000-31022400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr22:31019000-31030200	Weak transcription	Brain Cingulate Gyrus	brain

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