Variant report

Variant	rs5994365
Chromosome Location	chr22:31450987-31450988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr22:31450943-31452206	IMR90	lung:	n/a	chr22:31451761-31451770
2	RCOR1	chr22:31450865-31452901	IMR90	lung:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31450684..31454190-chr22:31458624..31461519,3	K562	blood:
2	chr22:31449984..31454484-chr22:31456787..31462654,7	K562	blood:
3	chr22:31431928..31434471-chr22:31449804..31451831,2	MCF-7	breast:
4	chr22:31363469..31366268-chr22:31450278..31456884,6	MCF-7	breast:
5	chr22:31448944..31454267-chr22:31475725..31482456,15	MCF-7	breast:
6	chr22:31450722..31454659-chr22:31476861..31481048,4	K562	blood:
7	chr22:31362787..31366384-chr22:31450123..31453347,3	MCF-7	breast:
8	chr22:31450718..31452880-chr22:31457371..31459942,3	MCF-7	breast:
9	chr22:31450083..31452668-chr22:31463620..31466392,3	MCF-7	breast:
10	chr22:31449294..31454779-chr22:31475265..31480255,11	MCF-7	breast:
11	chr22:31432776..31435079-chr22:31450665..31453170,2	MCF-7	breast:
12	chr22:31368025..31371169-chr22:31447828..31451638,3	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SL633P	TF binding region
ENSG00000183963	Chromatin interaction
ENSG00000273387	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000253352	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10427701	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10854603	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11705177	0.88[ASN][1000 genomes]
rs11705250	0.88[ASN][1000 genomes]
rs11705313	0.88[ASN][1000 genomes]
rs12157450	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12165471	0.90[ASN][1000 genomes]
rs12170984	0.93[ASN][1000 genomes]
rs12330058	0.90[ASN][1000 genomes]
rs13057068	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2006301	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35060453	0.90[ASN][1000 genomes]
rs5749209	0.95[EUR][1000 genomes]
rs5749210	0.97[EUR][1000 genomes]
rs5753433	0.87[EUR][1000 genomes]
rs5753434	0.87[EUR][1000 genomes]
rs5753435	0.87[EUR][1000 genomes]
rs5753436	0.95[EUR][1000 genomes]
rs5753438	0.97[EUR][1000 genomes]
rs5994366	0.81[AMR][1000 genomes]
rs5994368	0.90[ASN][1000 genomes]
rs5994370	0.90[ASN][1000 genomes]
rs5997863	0.88[ASN][1000 genomes]
rs5997864	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5997866	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5997871	0.90[ASN][1000 genomes]
rs5997872	0.85[ASN][1000 genomes]
rs7284593	0.93[ASN][1000 genomes]
rs7290780	0.90[EUR][1000 genomes]
rs7291565	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7292038	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9619166	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9619167	0.93[ASN][1000 genomes]
rs9621175	0.90[ASN][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	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv966103	chr22:31410201-31452981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr22:31440000-31453200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr22:31440600-31451000	Weak transcription	Osteobl	bone
3	chr22:31441600-31455000	Enhancers	Fetal Stomach	stomach
4	chr22:31443000-31451000	Weak transcription	A549	lung
5	chr22:31443200-31451000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr22:31443200-31451000	Weak transcription	Hela-S3	cervix
7	chr22:31443400-31451200	Weak transcription	Right Ventricle	heart
8	chr22:31443600-31451000	Weak transcription	Ovary	ovary
9	chr22:31443600-31455400	Weak transcription	K562	blood
10	chr22:31445000-31451000	Weak transcription	Right Atrium	heart
11	chr22:31446400-31451000	Weak transcription	HUVEC	blood vessel
12	chr22:31446600-31451800	Weak transcription	Spleen	Spleen
13	chr22:31447000-31451200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr22:31447200-31451400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr22:31447400-31451000	Weak transcription	Adipose Nuclei	Adipose
16	chr22:31449000-31451000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr22:31449200-31451000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:31449200-31451000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr22:31449200-31451200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr22:31449200-31453400	Enhancers	Fetal Muscle Leg	muscle
21	chr22:31449400-31451000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:31449400-31451000	Weak transcription	HMEC	breast
23	chr22:31449600-31451000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:31449800-31451000	Weak transcription	NHEK	skin
25	chr22:31449800-31453200	Enhancers	Fetal Lung	lung
26	chr22:31450000-31451000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr22:31450000-31451000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr22:31450000-31451000	Enhancers	Stomach Smooth Muscle	stomach
29	chr22:31450000-31451200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr22:31450000-31451200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr22:31450000-31451200	Enhancers	HepG2	liver
32	chr22:31450000-31453000	Enhancers	Fetal Muscle Trunk	muscle
33	chr22:31450200-31451400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:31450200-31451400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr22:31450200-31452400	Enhancers	Fetal Heart	heart
36	chr22:31450200-31454400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:31450400-31451600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:31450600-31452200	Enhancers	NHLF	lung
39	chr22:31450800-31451000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr22:31450800-31451000	Enhancers	Rectal Smooth Muscle	rectum
41	chr22:31450800-31451200	Enhancers	Colon Smooth Muscle	Colon
42	chr22:31450800-31451800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr22:31450800-31452000	Enhancers	Lung	lung
44	chr22:31450800-31452800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr22:31450800-31452800	Enhancers	Left Ventricle	heart
46	chr22:31450800-31453000	Enhancers	Placenta	Placenta
47	chr22:31450800-31453200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr22:31450800-31453200	Enhancers	Fetal Intestine Small	intestine
49	chr22:31450800-31453600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr22:31450800-31454600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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