Variant report

Variant	rs73170572
Chromosome Location	chr22:34152994-34152995
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1005680	1.00[ASN][1000 genomes]
rs10483174	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703305	1.00[ASN][1000 genomes]
rs11704212	1.00[ASN][1000 genomes]
rs11705063	1.00[ASN][1000 genomes]
rs11912301	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11912405	1.00[ASN][1000 genomes]
rs11913804	1.00[ASN][1000 genomes]
rs11914012	1.00[ASN][1000 genomes]
rs13055480	1.00[ASN][1000 genomes]
rs16992874	0.81[AMR][1000 genomes]
rs16992883	0.81[AMR][1000 genomes]
rs16992886	0.81[AMR][1000 genomes]
rs16993078	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16993089	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17747599	1.00[ASN][1000 genomes]
rs2413206	1.00[ASN][1000 genomes]
rs2413208	1.00[ASN][1000 genomes]
rs34060203	1.00[ASN][1000 genomes]
rs34290110	1.00[ASN][1000 genomes]
rs34375307	1.00[ASN][1000 genomes]
rs34455747	1.00[ASN][1000 genomes]
rs34597805	1.00[ASN][1000 genomes]
rs34871405	1.00[ASN][1000 genomes]
rs35838699	1.00[ASN][1000 genomes]
rs36006309	1.00[ASN][1000 genomes]
rs55819147	1.00[ASN][1000 genomes]
rs55963330	1.00[ASN][1000 genomes]
rs57416378	0.93[AMR][1000 genomes]
rs5749698	1.00[ASN][1000 genomes]
rs5754739	1.00[ASN][1000 genomes]
rs5754746	1.00[ASN][1000 genomes]
rs58634529	1.00[ASN][1000 genomes]
rs5999089	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61150953	0.93[AMR][1000 genomes]
rs67258059	1.00[ASN][1000 genomes]
rs73154536	1.00[ASN][1000 genomes]
rs73154574	1.00[ASN][1000 genomes]
rs73170544	0.81[AMR][1000 genomes]
rs73170546	0.81[AMR][1000 genomes]
rs73170547	0.81[AMR][1000 genomes]
rs73170549	0.81[AMR][1000 genomes]
rs73170550	0.81[AMR][1000 genomes]
rs73170561	0.93[AMR][1000 genomes]
rs73170587	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170592	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170593	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170600	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73171909	1.00[ASN][1000 genomes]
rs73171910	1.00[ASN][1000 genomes]
rs73171912	1.00[ASN][1000 genomes]
rs73171913	1.00[ASN][1000 genomes]
rs73171915	1.00[ASN][1000 genomes]
rs73171921	1.00[ASN][1000 genomes]
rs73171926	1.00[ASN][1000 genomes]
rs73171927	1.00[ASN][1000 genomes]
rs73171931	1.00[ASN][1000 genomes]
rs738987	1.00[ASN][1000 genomes]
rs738989	1.00[ASN][1000 genomes]
rs933215	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1055791	chr22:33822226-34159536	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1055203	chr22:34098417-34196685	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv459878	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv588936	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv914992	chr22:34135007-34283144	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv588937	chr22:34144823-34156607	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv524156	chr22:34145596-34260738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv529885	chr22:34150132-34182300	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1064781	chr22:34152145-34231792	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34124800-34171000	Weak transcription	Ovary	ovary
2	chr22:34126200-34176200	Weak transcription	Spleen	Spleen
3	chr22:34131000-34154200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr22:34134400-34164800	Weak transcription	Brain Anterior Caudate	brain
5	chr22:34138000-34160800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr22:34141800-34153200	Weak transcription	Psoas Muscle	Psoas
7	chr22:34143400-34160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:34145000-34154000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr22:34147400-34158400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr22:34147400-34168600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr22:34147600-34154600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:34149200-34167000	Weak transcription	Brain Angular Gyrus	brain
13	chr22:34149400-34153400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr22:34150800-34154800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:34150800-34155000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:34151000-34155000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:34151400-34155600	Enhancers	Fetal Heart	heart
18	chr22:34151800-34155000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr22:34151800-34159000	Weak transcription	Fetal Intestine Large	intestine
20	chr22:34151800-34167000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr22:34152000-34153400	Strong transcription	Aorta	Aorta
22	chr22:34152000-34158400	Weak transcription	Fetal Intestine Small	intestine
23	chr22:34152200-34156800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr22:34152400-34154400	Enhancers	Fetal Muscle Leg	muscle
25	chr22:34152400-34154400	Genic enhancers	Fetal Stomach	stomach
26	chr22:34152400-34154600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:34152400-34154600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr22:34152400-34155000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr22:34152400-34155400	Enhancers	Liver	Liver
30	chr22:34152600-34153000	Genic enhancers	Gastric	stomach
31	chr22:34152600-34153200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr22:34152600-34153200	Enhancers	Fetal Muscle Trunk	muscle
33	chr22:34152600-34153400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr22:34152600-34154200	Enhancers	Rectal Smooth Muscle	rectum
35	chr22:34152600-34154400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr22:34152600-34154400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr22:34152600-34154600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:34152600-34154600	Enhancers	Right Ventricle	heart
39	chr22:34152600-34154800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr22:34152600-34154800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr22:34152600-34154800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr22:34152600-34154800	Enhancers	Left Ventricle	heart
43	chr22:34152600-34155200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr22:34152800-34153400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr22:34152800-34153600	Enhancers	Pancreas	Pancrea
46	chr22:34152800-34154200	Enhancers	Fetal Kidney	kidney
47	chr22:34152800-34154400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr22:34152800-34154400	Enhancers	Colon Smooth Muscle	Colon
49	chr22:34152800-34154600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr22:34152800-34154600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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