Variant report

Variant	rs5994412
Chromosome Location	chr22:31992151-31992152
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31976205..31978536-chr22:31989845..31992334,2	MCF-7	breast:
2	chr22:31980968..31983542-chr22:31989382..31992325,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198089	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16989291	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2070274	0.82[AFR][1000 genomes]
rs3747156	0.92[EUR][1000 genomes]
rs3747157	0.92[EUR][1000 genomes]
rs55883820	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55989741	0.89[EUR][1000 genomes]
rs56219558	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56338522	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5994404	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5994405	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73160657	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73160662	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73160669	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73160697	0.88[EUR][1000 genomes]
rs8139890	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
4	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:31964600-31993600	Weak transcription	Psoas Muscle	Psoas
6	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr22:31974400-31998200	Weak transcription	Small Intestine	intestine
8	chr22:31974800-31998200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr22:31975000-32003800	Weak transcription	Aorta	Aorta
10	chr22:31976200-32014800	Weak transcription	A549	lung
11	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
13	chr22:31981800-31995600	Weak transcription	HUVEC	blood vessel
14	chr22:31982000-31998000	Weak transcription	Brain Angular Gyrus	brain
15	chr22:31982400-31998200	Weak transcription	Gastric	stomach
16	chr22:31982600-31997400	Weak transcription	Brain Hippocampus Middle	brain
17	chr22:31982600-31998000	Weak transcription	NHEK	skin
18	chr22:31982600-31998400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:31982600-32006400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr22:31982800-31997600	Weak transcription	Colon Smooth Muscle	Colon
21	chr22:31982800-31998200	Weak transcription	NHLF	lung
22	chr22:31983000-31998600	Weak transcription	Colonic Mucosa	Colon
23	chr22:31983600-31998000	Weak transcription	Spleen	Spleen
24	chr22:31983800-31996400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr22:31984400-31992200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr22:31984400-31996400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr22:31984400-31996800	Weak transcription	GM12878-XiMat	blood
28	chr22:31984400-31998000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr22:31984400-31998000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr22:31984400-31998200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr22:31984400-31998400	Weak transcription	Primary B cells from cord blood	blood
32	chr22:31984400-31998400	Weak transcription	Adipose Nuclei	Adipose
33	chr22:31984400-31998400	Weak transcription	Fetal Lung	lung
34	chr22:31984400-31999000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr22:31984600-31996200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr22:31984600-31997600	Weak transcription	Fetal Muscle Leg	muscle
37	chr22:31984600-31997800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr22:31984600-31998000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr22:31984600-31998200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr22:31984600-31998200	Weak transcription	Ovary	ovary
41	chr22:31985200-31998200	Weak transcription	Fetal Brain Female	brain
42	chr22:31985600-31997800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr22:31985600-31998000	Weak transcription	Osteobl	bone
44	chr22:31985600-31998400	Weak transcription	Brain Anterior Caudate	brain
45	chr22:31985600-32014000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr22:31985800-31993200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr22:31985800-31996000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:31985800-31996000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr22:31985800-31996400	Weak transcription	Dnd41	blood
50	chr22:31985800-31996600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links