Variant report

Variant	rs34550586
Chromosome Location	chr22:22145634-22145635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL1	chr22:22145594-22146408	K562	blood:	n/a	n/a
2	CEBPB	chr22:22145613-22146608	K562	blood:	n/a	n/a
3	CEBPD	chr22:22145620-22146807	K562	blood:	n/a	n/a
4	POLR2A	chr22:22145533-22146473	K562	blood:	n/a	n/a
5	EGR1	chr22:22145633-22146517	K562	blood:	n/a	n/a
6	STAT5A	chr22:22145566-22146953	K562	blood:	n/a	n/a
7	POLR2A	chr22:22144666-22145786	K562	blood:	n/a	n/a
8	NR2F2	chr22:22145532-22146739	K562	blood:	n/a	n/a
9	GATA1	chr22:22144071-22147721	K562	blood:	n/a	chr22:22144744-22144751
10	JUN	chr22:22143978-22146964	K562	blood:	n/a	n/a
11	MAX	chr22:22145534-22146395	K562	blood:	n/a	n/a
12	TEAD4	chr22:22145506-22146879	K562	blood:	n/a	n/a
13	PML	chr22:22145534-22146818	K562	blood:	n/a	n/a
14	GATA2	chr22:22145539-22146951	K562	blood:	n/a	n/a
15	MAX	chr22:22145521-22146406	K562	blood:	n/a	n/a
16	ATF3	chr22:22145611-22146769	K562	blood:	n/a	n/a
17	PML	chr22:22145615-22146786	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22143176..22145767-chr22:22180225..22183030,2	K562	blood:
2	chr22:22145076..22147580-chr22:22220741..22222619,2	K562	blood:
3	chr22:22066653..22068423-chr22:22143403..22146205,2	K562	blood:
4	chr22:22020107..22022077-chr22:22144691..22146337,2	K562	blood:

No data

Variant related genes	Relation type
RNA5SP493	TF binding region
ENSG00000100023	Chromatin interaction
ENSG00000100030	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11704205	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11912377	0.82[EUR][1000 genomes]
rs11913721	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13943	0.82[ASN][1000 genomes]
rs1892846	0.82[ASN][1000 genomes]
rs1892848	0.82[ASN][1000 genomes]
rs2006893	0.82[ASN][1000 genomes]
rs2266967	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2266969	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2283791	0.81[EUR][1000 genomes]
rs2283792	0.83[ASN][1000 genomes]
rs2283793	0.82[EUR][1000 genomes]
rs2283794	0.82[ASN][1000 genomes]
rs28697123	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3788332	0.83[ASN][1000 genomes]
rs3810609	0.81[ASN][1000 genomes]
rs3810610	0.82[ASN][1000 genomes]
rs4478016	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4516540	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4640486	0.84[EUR][1000 genomes]
rs56036797	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs56227348	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs5749806	0.81[ASN][1000 genomes]
rs5749986	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5749998	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5750113	0.80[ASN][1000 genomes]
rs5755099	0.82[ASN][1000 genomes]
rs5755694	0.81[ASN][1000 genomes]
rs5999515	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5999521	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5999550	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5999749	0.82[EUR][1000 genomes]
rs5999750	0.82[ASN][1000 genomes]
rs5999752	0.82[EUR][1000 genomes]
rs62235132	0.81[EUR][1000 genomes]
rs6518968	0.86[EUR][1000 genomes]
rs6518986	0.84[ASN][1000 genomes]
rs6928	0.82[ASN][1000 genomes]
rs7290469	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs8136590	0.88[ASN][1000 genomes]
rs8136867	0.81[ASN][1000 genomes]
rs8141851	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9607285	0.85[EUR][1000 genomes]
rs9607287	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9607298	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9610314	0.84[EUR][1000 genomes]
rs9610328	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9610338	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9610374	0.82[EUR][1000 genomes]
rs9610458	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
2	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
3	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
4	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
5	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
6	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
7	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv588322	chr22:22086373-22186479	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
12	esv1795495	chr22:22131125-22204916	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv914470	chr22:22131125-22272737	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1059265	chr22:22131125-22457154	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	esv3379268	chr22:22135347-22446281	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	esv3385441	chr22:22135777-22320294	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	esv2752404	chr22:22141825-22570417	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
18	esv2422277	chr22:22144108-22442159	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	esv2422295	chr22:22144108-22442159	Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs34550586	LL22NC03-86G7.1	cis	Adipose Subcutaneous	GTEx
rs34550586	LL22NC03-86G7.1	cis	Thyroid	GTEx
rs34550586	LL22NC03-86G7.1	cis	Nerve Tibial	GTEx
rs34550586	LL22NC03-86G7.1	cis	Heart Left Ventricle	GTEx
rs34550586	LL22NC03-86G7.1	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22110600-22150600	Weak transcription	Fetal Heart	heart
2	chr22:22113400-22163800	Weak transcription	Right Atrium	heart
3	chr22:22114200-22172800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:22121600-22171400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:22123200-22162200	Strong transcription	Fetal Thymus	thymus
6	chr22:22127200-22146000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:22127200-22167600	Weak transcription	Psoas Muscle	Psoas
8	chr22:22127200-22170600	Weak transcription	Hela-S3	cervix
9	chr22:22127400-22145800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr22:22127400-22146000	Weak transcription	A549	lung
11	chr22:22129000-22162200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr22:22129600-22151200	Weak transcription	Colon Smooth Muscle	Colon
13	chr22:22129800-22152000	Weak transcription	Brain Germinal Matrix	brain
14	chr22:22130000-22150600	Weak transcription	Ovary	ovary
15	chr22:22130000-22150800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:22130400-22147000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr22:22131400-22150600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr22:22132000-22152000	Weak transcription	Right Ventricle	heart
19	chr22:22133400-22156000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr22:22134200-22162200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:22134600-22151200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr22:22135000-22146400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr22:22135200-22152400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr22:22135200-22162200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr22:22135800-22162400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:22135800-22162600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:22135800-22162600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr22:22136000-22162400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr22:22136200-22161800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:22136600-22146400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr22:22137600-22148200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr22:22137600-22152400	Weak transcription	Esophagus	oesophagus
33	chr22:22137600-22162600	Strong transcription	Dnd41	blood
34	chr22:22138000-22150800	Weak transcription	Gastric	stomach
35	chr22:22138400-22152000	Weak transcription	Spleen	Spleen
36	chr22:22138800-22149400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:22139200-22172800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr22:22139400-22151800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:22139600-22154600	Weak transcription	Fetal Brain Male	brain
40	chr22:22139800-22150600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr22:22139800-22151200	Weak transcription	Pancreas	Pancrea
42	chr22:22140000-22150400	Weak transcription	Lung	lung
43	chr22:22140200-22147400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr22:22140800-22161800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr22:22141000-22146000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr22:22141000-22146400	Strong transcription	Thymus	Thymus
47	chr22:22141000-22151200	Strong transcription	Fetal Muscle Leg	muscle
48	chr22:22141000-22162000	Strong transcription	Fetal Intestine Large	intestine
49	chr22:22141000-22162200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr22:22141600-22147600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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