Variant report

Variant	rs73160662
Chromosome Location	chr22:31980134-31980135
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31957003..31957916-chr22:31980133..31980925,2	K562	blood:
2	22:31829733-31836635..22:31978142-31983723	GM12878	blood:
3	22:31936958-31958600..22:31978142-31983723	K562	blood:
4	chr22:31978403..31980751-chr22:32010248..32012118,2	MCF-7	breast:
5	chr22:31971494..31974230-chr22:31978684..31980749,2	K562	blood:
6	chr22:31978255..31985248-chr22:32021950..32028161,12	MCF-7	breast:
7	chr22:31974878..31977685-chr22:31979541..31981630,2	K562	blood:

Variant related genes	Relation type
ENSG00000198089	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000241878	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16989291	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747156	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3747157	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55883820	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55989741	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56219558	0.86[EUR][1000 genomes]
rs56338522	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994404	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994405	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994412	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5998045	0.83[EUR][1000 genomes]
rs73160648	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73160657	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160669	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73160697	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8139890	0.86[EUR][1000 genomes]
rs9784236	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914979	chr22:31964043-31990184	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv914980	chr22:31966274-32024980	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv979746	chr22:31976201-31982901	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv517534	chr22:31977594-32024980	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31929800-31985600	Weak transcription	Fetal Kidney	kidney
2	chr22:31934000-31981000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr22:31935200-31985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr22:31941400-31981400	Weak transcription	NHEK	skin
6	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr22:31949200-31981600	Weak transcription	Left Ventricle	heart
8	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
9	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:31958000-31983000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:31964600-31993600	Weak transcription	Psoas Muscle	Psoas
12	chr22:31967000-31985400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr22:31967200-31981000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr22:31968800-31986200	Strong transcription	Fetal Thymus	thymus
15	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr22:31970600-31980600	Weak transcription	Brain Angular Gyrus	brain
17	chr22:31970600-31980800	Weak transcription	Colon Smooth Muscle	Colon
18	chr22:31970600-31981400	Weak transcription	Pancreas	Pancrea
19	chr22:31971400-31982000	Weak transcription	Gastric	stomach
20	chr22:31971600-31981200	Weak transcription	HMEC	breast
21	chr22:31971800-31982000	Weak transcription	Brain Substantia Nigra	brain
22	chr22:31972000-31981200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr22:31972000-31981600	Weak transcription	Brain Hippocampus Middle	brain
24	chr22:31972000-31982600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr22:31973800-31980600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr22:31973800-31981200	Weak transcription	Fetal Muscle Leg	muscle
27	chr22:31974400-31998200	Weak transcription	Small Intestine	intestine
28	chr22:31974600-31981200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr22:31974600-31981400	Weak transcription	Colonic Mucosa	Colon
30	chr22:31974600-31981400	Weak transcription	Ovary	ovary
31	chr22:31974600-31981600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:31974600-31984200	Weak transcription	Right Ventricle	heart
33	chr22:31974800-31998200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr22:31975000-31980600	Weak transcription	Liver	Liver
35	chr22:31975000-31981000	Weak transcription	Fetal Brain Female	brain
36	chr22:31975000-32003800	Weak transcription	Aorta	Aorta
37	chr22:31975200-31981000	Weak transcription	Brain Anterior Caudate	brain
38	chr22:31975200-31981000	Weak transcription	Brain Germinal Matrix	brain
39	chr22:31976200-32014800	Weak transcription	A549	lung
40	chr22:31976400-31981200	Weak transcription	Fetal Intestine Large	intestine
41	chr22:31976400-31981400	Weak transcription	Spleen	Spleen
42	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
44	chr22:31976600-31982200	Enhancers	HepG2	liver
45	chr22:31977000-31985400	Weak transcription	Stomach Mucosa	stomach
46	chr22:31977600-31982000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:31977800-31981000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr22:31977800-31983000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
49	chr22:31978200-31987200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr22:31978400-31985800	Strong transcription	Thymus	Thymus

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