Variant report

Variant	rs56017492
Chromosome Location	chr22:31516513-31516514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr22:31516269-31516537	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31516152..31519079-chr22:31523414..31526420,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198832	TF binding region
INPP5J	TF binding region
ENSG00000185133	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12485186	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1990125	1.00[ASN][1000 genomes]
rs2413016	1.00[ASN][1000 genomes]
rs4820933	1.00[ASN][1000 genomes]
rs5753446	1.00[ASN][1000 genomes]
rs73156781	1.00[ASN][1000 genomes]
rs73156787	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156799	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs917208	0.84[EUR][1000 genomes];1.00[ASN][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	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
2	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31504400-31517800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr22:31504400-31518000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr22:31504600-31518600	Weak transcription	Fetal Brain Female	brain
4	chr22:31512600-31517800	Weak transcription	Aorta	Aorta
5	chr22:31514000-31516600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr22:31514000-31516600	Enhancers	Fetal Muscle Leg	muscle
7	chr22:31514000-31517000	Enhancers	K562	blood
8	chr22:31514000-31517200	Enhancers	Right Ventricle	heart
9	chr22:31514200-31516600	Enhancers	Right Atrium	heart
10	chr22:31514200-31518400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr22:31514400-31516800	Enhancers	HSMMtube	muscle
12	chr22:31514400-31517600	Weak transcription	Colonic Mucosa	Colon
13	chr22:31514400-31517600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr22:31514600-31518200	Weak transcription	Psoas Muscle	Psoas
15	chr22:31514800-31516600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:31515000-31516600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:31515000-31517400	Weak transcription	Fetal Intestine Small	intestine
18	chr22:31515200-31516600	Enhancers	Left Ventricle	heart
19	chr22:31515400-31518000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr22:31515400-31518200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr22:31515400-31518200	Weak transcription	Placenta	Placenta
22	chr22:31515600-31516800	Weak transcription	Fetal Intestine Large	intestine
23	chr22:31515600-31518600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr22:31515600-31518600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr22:31515800-31516800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr22:31515800-31518200	Weak transcription	Pancreas	Pancrea
27	chr22:31515800-31518400	Weak transcription	Spleen	Spleen
28	chr22:31516000-31516600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr22:31516000-31516600	Enhancers	HSMM	muscle
30	chr22:31516000-31517000	Enhancers	Fetal Heart	heart
31	chr22:31516000-31517800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr22:31516000-31518600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr22:31516400-31516600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr22:31516400-31516600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr22:31516400-31516600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:31516400-31516600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr22:31516400-31516600	Enhancers	Fetal Muscle Trunk	muscle
38	chr22:31516400-31516800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr22:31516400-31517000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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