Variant report

Variant	rs1544468
Chromosome Location	chr22:31023191-31023192
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11703570	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13053941	0.89[EUR][1000 genomes]
rs13054505	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13054912	0.96[ASN][1000 genomes]
rs13055009	0.89[ASN][1000 genomes]
rs13056378	0.87[ASN][1000 genomes]
rs13057127	0.99[ASN][1000 genomes]
rs2003503	0.90[ASN][1000 genomes]
rs2078973	0.83[ASN][1000 genomes]
rs2301955	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2301957	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2301958	0.93[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs3179442	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs4340628	0.92[ASN][1000 genomes]
rs4353747	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4820023	0.82[EUR][1000 genomes]
rs4820888	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4820890	0.89[ASN][1000 genomes]
rs56132790	0.99[ASN][1000 genomes]
rs5749131	0.81[CHB][hapmap]
rs5749132	0.81[ASN][1000 genomes]
rs5749134	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs5749135	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs5749137	0.89[ASN][1000 genomes]
rs5749142	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5749143	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5749145	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5749148	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753234	0.82[ASN][1000 genomes]
rs5753246	0.88[ASN][1000 genomes]
rs5753247	0.84[ASN][1000 genomes]
rs5753249	0.89[ASN][1000 genomes]
rs5753257	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753258	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753260	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5997703	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs5997709	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5997710	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5997726	0.84[ASN][1000 genomes]
rs5997727	0.93[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs7286680	0.90[ASN][1000 genomes]
rs7289553	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs731990	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs731991	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs740233	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs740235	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8138932	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8139950	0.80[EUR][1000 genomes]
rs8630	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs9621047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][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	chr22:31006000-31023200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:31006000-31023200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:31006000-31030400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr22:31006000-31030600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:31006000-31030600	Weak transcription	Colonic Mucosa	Colon
8	chr22:31006200-31023800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:31006200-31030600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr22:31006400-31023200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:31006400-31023400	Strong transcription	Fetal Intestine Small	intestine
12	chr22:31006600-31030400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr22:31006800-31030200	Weak transcription	Placenta	Placenta
14	chr22:31007000-31030600	Weak transcription	Fetal Brain Male	brain
15	chr22:31007600-31030200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:31008000-31030400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr22:31008400-31023200	Strong transcription	Adipose Nuclei	Adipose
18	chr22:31011600-31024400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr22:31011600-31026000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr22:31011800-31030200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr22:31011800-31030600	Weak transcription	Right Ventricle	heart
22	chr22:31012000-31023800	Weak transcription	Brain Anterior Caudate	brain
23	chr22:31012000-31030600	Weak transcription	Brain Angular Gyrus	brain
24	chr22:31012200-31024600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr22:31013000-31023200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr22:31013600-31030600	Weak transcription	Pancreas	Pancrea
27	chr22:31013800-31030600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr22:31014000-31030200	Weak transcription	Brain Substantia Nigra	brain
29	chr22:31014000-31030400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr22:31014000-31030800	Weak transcription	Gastric	stomach
31	chr22:31014000-31030800	Weak transcription	Ovary	ovary
32	chr22:31015000-31024200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:31015800-31030600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:31015800-31030600	Weak transcription	Fetal Lung	lung
35	chr22:31017000-31024000	Weak transcription	Brain Germinal Matrix	brain
36	chr22:31017000-31030400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr22:31017000-31030600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr22:31017200-31030600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr22:31017800-31024000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr22:31019000-31030200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr22:31019200-31030200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr22:31019200-31030200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr22:31019200-31030600	Weak transcription	Colon Smooth Muscle	Colon
44	chr22:31019200-31030600	Weak transcription	Left Ventricle	heart
45	chr22:31019200-31030800	Weak transcription	Lung	lung
46	chr22:31019600-31024000	Weak transcription	Fetal Muscle Leg	muscle
47	chr22:31019600-31024200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr22:31020200-31023200	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr22:31021600-31023200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr22:31021600-31023200	Strong transcription	Fetal Brain Female	brain

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