Variant report

Variant	rs73170549
Chromosome Location	chr22:34120089-34120090
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	SPI1	chr22:34119768-34120199	GM12891	blood:	n/a	n/a
2	BHLHE40	chr22:34119934-34120194	GM12878	blood:	n/a	n/a
3	SPI1	chr22:34119826-34120263	HL-60	blood:	n/a	n/a
4	SPI1	chr22:34119782-34120361	HL-60	blood:	n/a	n/a
5	MAX	chr22:34119844-34120284	NB4	blood:	n/a	n/a
6	POLR2A	chr22:34120000-34120341	H1-hESC	embryonic stem cell:	n/a	n/a
7	SPI1	chr22:34119847-34120210	GM12878	blood:	n/a	n/a
8	SPI1	chr22:34119881-34120203	GM12891	blood:	n/a	n/a
9	ELF1	chr22:34119930-34120284	GM12878	blood:	n/a	n/a
10	MYC	chr22:34119881-34120270	NB4	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SYN3-4	chr22:34119818-34120265	ENSG00000232081.1

Variant related genes	Relation type
LARGE-AS1	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10483174	0.81[AMR][1000 genomes]
rs16992874	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16992883	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16992886	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57416378	0.87[AMR][1000 genomes]
rs5999073	0.87[ASN][1000 genomes]
rs61150953	0.87[AMR][1000 genomes]
rs73170544	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170546	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170547	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170550	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170561	0.87[AMR][1000 genomes]
rs73170572	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv531588	chr22:33776857-34150188	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv917167	chr22:33852676-34137036	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1062832	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv544686	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv1060684	chr22:34108462-34140653	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
15	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
16	nsv524432	chr22:34119866-34146368	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	4 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	chr22:34105600-34133400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:34110800-34120200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:34110800-34122200	Weak transcription	Aorta	Aorta
4	chr22:34111000-34121400	Weak transcription	Ovary	ovary
5	chr22:34111200-34146200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr22:34111800-34122000	Weak transcription	Fetal Stomach	stomach
7	chr22:34111800-34142800	Weak transcription	Fetal Intestine Small	intestine
8	chr22:34116400-34135800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:34116800-34122200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:34117200-34127400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr22:34117400-34122400	Weak transcription	Liver	Liver
12	chr22:34118400-34121600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:34118400-34121800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:34118400-34122400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:34118600-34121600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr22:34118800-34120200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr22:34118800-34120200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:34118800-34121600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:34118800-34121600	Enhancers	Right Ventricle	heart
20	chr22:34119000-34120800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr22:34119000-34122000	Weak transcription	Fetal Brain Female	brain
22	chr22:34119200-34122600	Enhancers	Fetal Heart	heart
23	chr22:34119600-34121200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:34119600-34121200	Enhancers	Spleen	Spleen
25	chr22:34119600-34121400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr22:34119600-34121400	Weak transcription	NHEK	skin
27	chr22:34119800-34120200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr22:34119800-34120400	Enhancers	GM12878-XiMat	blood
29	chr22:34119800-34120800	Enhancers	Brain Anterior Caudate	brain
30	chr22:34119800-34121400	Enhancers	Right Atrium	heart
31	chr22:34119800-34121600	Enhancers	Primary B cells from peripheral blood	blood
32	chr22:34119800-34121800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr22:34119800-34124200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr22:34119800-34124800	Enhancers	Left Ventricle	heart
35	chr22:34120000-34120200	Genic enhancers	Gastric	stomach
36	chr22:34120000-34120200	ZNF genes & repeats	Pancreas	Pancrea
37	chr22:34120000-34120200	Enhancers	Psoas Muscle	Psoas
38	chr22:34120000-34121400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr22:34120000-34121600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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