Variant report

Variant	rs61583714
Chromosome Location	chr22:30787190-30787191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:264)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:30787180-30787330	Hela-S3	cervix:	n/a	n/a
2	JUND	chr22:30787149-30787759	HepG2	liver:	n/a	chr22:30787582-30787591 chr22:30787581-30787592 chr22:30787583-30787592 chr22:30787582-30787592 chr22:30787582-30787592 chr22:30787581-30787593 chr22:30787583-30787590
3	CTCF	chr22:30787144-30787388	GM13976	blood:	n/a	n/a
4	RAD21	chr22:30787020-30787560	ECC-1	luminal epithelium:	n/a	n/a
5	CTCF	chr22:30787140-30787290	NB4	blood:	n/a	n/a
6	SMC3	chr22:30787070-30787485	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr22:30787180-30787330	HMF	breast:	n/a	n/a
8	CTCF	chr22:30787160-30787310	NHLF	lung:	n/a	n/a
9	CTCF	chr22:30787160-30787310	HFF-Myc	foreskin:	n/a	n/a
10	YY1	chr22:30787119-30787435	K562	blood:	n/a	n/a
11	MXI1	chr22:30786940-30787641	SK-N-SH	brain:	n/a	n/a
12	ZNF143	chr22:30787094-30787436	GM12878	blood:	n/a	n/a
13	CTCF	chr22:30787072-30787392	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr22:30787093-30787403	NHEK	skin:	n/a	n/a
15	TEAD4	chr22:30787003-30787508	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr22:30787180-30787330	HCFaa	heart:	n/a	n/a
17	CTCF	chr22:30787120-30787270	GM12868	blood:	n/a	n/a
18	GTF2F1	chr22:30787177-30787498	Hela-S3	cervix:	n/a	n/a
19	RAD21	chr22:30787072-30787678	MCF-7	breast:	n/a	n/a
20	MXI1	chr22:30787095-30787469	GM12878	blood:	n/a	n/a
21	CTCF	chr22:30787070-30787471	T-47D	breast:	n/a	n/a
22	MAX	chr22:30787115-30787454	H1-hESC	embryonic stem cell:	n/a	chr22:30787289-30787299
23	FOSL1	chr22:30787158-30787699	K562	blood:	n/a	chr22:30787582-30787591 chr22:30787583-30787592 chr22:30787582-30787592 chr22:30787582-30787592 chr22:30787581-30787593 chr22:30787583-30787590
24	CTCF	chr22:30787140-30787290	GM12870	blood:	n/a	n/a
25	RAD21	chr22:30787058-30787458	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr22:30787118-30787400	MCF-7	breast:	n/a	n/a
27	CTCF	chr22:30787134-30787415	ECC-1	luminal epithelium:	n/a	n/a
28	CTCF	chr22:30787123-30787379	LNCaP	prostate:	n/a	n/a
29	TEAD4	chr22:30786976-30787503	HepG2	liver:	n/a	n/a
30	CTCF	chr22:30786657-30787645	A549	lung:	n/a	n/a
31	CTCF	chr22:30787160-30787310	WERI-Rb-1	eye:	n/a	n/a
32	MAX	chr22:30787168-30787585	HepG2	liver:	n/a	chr22:30787289-30787299
33	RAD21	chr22:30787076-30787485	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr22:30787160-30787310	AoAF	blood vessel:	n/a	n/a
35	CTCF	chr22:30787051-30787331	A549	lung:	n/a	n/a
36	CTCF	chr22:30787180-30787330	AG09309	skin:	n/a	n/a
37	CTCF	chr22:30787097-30787439	K562	blood:	n/a	n/a
38	CTCF	chr22:30787140-30787290	GM12865	blood:	n/a	n/a
39	RAD21	chr22:30786972-30787627	HepG2	liver:	n/a	n/a
40	CTCF	chr22:30787093-30787415	GM19238	blood:	n/a	n/a
41	CTCF	chr22:30787102-30787465	ECC-1	luminal epithelium:	n/a	n/a
42	CTCF	chr22:30787120-30787270	GM12872	blood:	n/a	n/a
43	CTCF	chr22:30787180-30787330	HPF	lung:	n/a	n/a
44	CTCF	chr22:30787126-30787374	MCF-7	breast:	n/a	n/a
45	MXI1	chr22:30787106-30787623	HepG2	liver:	n/a	n/a
46	RAD21	chr22:30787118-30787338	K562	blood:	n/a	n/a
47	EBF1	chr22:30786853-30787877	GM12878	blood:	n/a	chr22:30787275-30787286
48	CTCF	chr22:30787060-30787416	K562	blood:	n/a	n/a
49	RAD21	chr22:30787119-30787436	A549	lung:	n/a	n/a
50	CTCF	chr22:30787160-30787310	AG04450	lung:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30786785..30787943-chr22:30821846..30823177,6	MCF-7	breast:
2	chr22:30786847..30787701-chr22:30822197..30822724,2	K562	blood:
3	chr22:30683373..30683939-chr22:30787054..30787807,2	K562	blood:
4	chr22:30655306..30657040-chr22:30785733..30787462,2	MCF-7	breast:
5	chr22:30787172..30787682-chr22:30952330..30952970,2	MCF-7	breast:
6	chr22:30785688..30789548-chr22:30822700..30827949,4	K562	blood:
7	chr22:30783942..30788734-chr22:30793549..30798623,5	K562	blood:
8	chr22:30782364..30784994-chr22:30785514..30787523,2	K562	blood:
9	chr22:30786344..30789166-chr22:30790183..30793938,3	K562	blood:
10	chr22:30786734..30787783-chr22:30881073..30882029,10	K562	blood:
11	chr22:30786809..30787721-chr22:30881123..30882274,5	MCF-7	breast:
12	chr22:30786675..30787458-chr22:30952217..30952980,2	MCF-7	breast:
13	chr22:30783942..30787268-chr22:30794272..30798522,4	K562	blood:
14	chr22:30684543..30686368-chr22:30785560..30787227,2	K562	blood:
15	chr22:30786828..30787681-chr22:30881079..30881999,5	MCF-7	breast:
16	chr22:30782998..30784853-chr22:30785948..30788103,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNF215	TF binding region
ENSG00000239282	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000100003	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1005835	0.86[EUR][1000 genomes]
rs1010324	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11089447	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11089448	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11089449	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11703385	0.80[EUR][1000 genomes]
rs11703867	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11705639	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12171261	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2072160	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2074731	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2267154	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2267155	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2267156	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2283866	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2283870	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2283871	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299827	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2839998	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57940170	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5994294	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5994305	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5994306	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5997637	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5997646	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71331235	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7288366	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7289360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7290317	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8141656	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9619096	0.83[EUR][1000 genomes]
rs9619098	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9619105	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9620984	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription 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	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription 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	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30783800-30787200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr22:30783800-30787200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr22:30783800-30787200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr22:30783800-30787200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr22:30783800-30787200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr22:30783800-30787200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr22:30783800-30787200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr22:30783800-30787200	Weak transcription	Brain Hippocampus Middle	brain
9	chr22:30783800-30787200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr22:30783800-30787200	Weak transcription	NHDF-Ad	bronchial
11	chr22:30783800-30787200	Weak transcription	NHLF	lung
12	chr22:30783800-30787400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr22:30783800-30787400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:30783800-30787400	Weak transcription	Primary T cells from cord blood	blood
15	chr22:30783800-30787400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr22:30783800-30787400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr22:30783800-30787400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:30783800-30787400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr22:30783800-30787400	Weak transcription	Liver	Liver
20	chr22:30783800-30787400	Weak transcription	Brain Angular Gyrus	brain
21	chr22:30783800-30787400	Weak transcription	Fetal Intestine Large	intestine
22	chr22:30783800-30787400	Weak transcription	Spleen	Spleen
23	chr22:30783800-30787400	Weak transcription	HUVEC	blood vessel
24	chr22:30783800-30787400	Weak transcription	Osteobl	bone
25	chr22:30783800-30787600	Weak transcription	Left Ventricle	heart
26	chr22:30783800-30788600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:30783800-30788600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr22:30783800-30789200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr22:30783800-30789200	Weak transcription	Stomach Mucosa	stomach
30	chr22:30783800-30789600	Weak transcription	Lung	lung
31	chr22:30783800-30792000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr22:30783800-30792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr22:30783800-30792400	Weak transcription	Fetal Brain Male	brain
34	chr22:30783800-30792400	Weak transcription	Fetal Lung	lung
35	chr22:30783800-30792600	Weak transcription	Esophagus	oesophagus
36	chr22:30783800-30792600	Weak transcription	Fetal Brain Female	brain
37	chr22:30783800-30792600	Weak transcription	Fetal Kidney	kidney
38	chr22:30783800-30792600	Weak transcription	Pancreas	Pancrea
39	chr22:30783800-30792600	Weak transcription	Right Atrium	heart
40	chr22:30783800-30793000	Weak transcription	Gastric	stomach
41	chr22:30784000-30787200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr22:30784000-30787200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr22:30784000-30787200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr22:30784000-30787400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr22:30785000-30789600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr22:30786400-30787600	ZNF genes & repeats	Fetal Thymus	thymus
47	chr22:30786600-30787200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr22:30786600-30787200	ZNF genes & repeats	K562	blood
49	chr22:30786600-30787800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr22:30786600-30789000	Enhancers	Primary T cells fromperipheralblood	blood

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