Variant report

Variant	rs11705054
Chromosome Location	chr22:31501981-31501982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr22:31501963-31502171	HepG2	liver:	n/a	n/a
2	MAFK	chr22:31501961-31502228	HepG2	liver:	n/a	chr22:31502060-31502075
3	MAZ	chr22:31501611-31504230	IMR90	lung:	n/a	n/a
4	POLR2A	chr22:31499145-31502344	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr22:31501960-31502110	AG09309	skin:	n/a	n/a
6	POLR2A	chr22:31500750-31502618	U87	brain:	n/a	n/a
7	CTCF	chr22:31501940-31502090	HEEpiC	esophagus:	n/a	n/a
8	POLR2A	chr22:31501732-31502043	HepG2	liver:	n/a	n/a
9	POLR2A	chr22:31500723-31502027	HUVEC	blood vessel:	n/a	n/a
10	MAFK	chr22:31501894-31502246	IMR90	lung:	n/a	chr22:31502060-31502075
11	MAFF	chr22:31501965-31502156	HepG2	liver:	n/a	chr22:31502059-31502077
12	POLR2A	chr22:31497852-31504039	U87	brain:	n/a	n/a
13	MAFK	chr22:31501934-31502176	HepG2	liver:	n/a	chr22:31502060-31502075
14	POLR2A	chr22:31500724-31502385	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr22:31501900-31502050	HFF-Myc	foreskin:	n/a	n/a
16	CTCF	chr22:31501963-31502246	IMR90	lung:	n/a	n/a
17	POLR2A	chr22:31499154-31503129	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr22:31501973-31502160	A549	lung:	n/a	n/a
19	CTCF	chr22:31501980-31502130	HMEC	breast:	n/a	n/a
20	MXI1	chr22:31501535-31504386	IMR90	lung:	n/a	n/a
21	POLR2A	chr22:31497892-31504019	U87	brain:	n/a	n/a
22	RAD21	chr22:31501910-31502276	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAFK	chr22:31501973-31502238	H1-hESC	embryonic stem cell:	n/a	chr22:31502060-31502075
24	CTCF	chr22:31501980-31502130	GM12875	blood:	n/a	n/a
25	CTCF	chr22:31501940-31502090	GM12873	blood:	n/a	n/a
26	POLR2A	chr22:31501599-31502788	MCF-7	breast:	n/a	n/a
27	POLR2A	chr22:31497526-31504006	IMR90	lung:	n/a	n/a
28	POLR2A	chr22:31501895-31502340	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31494012..31497911-chr22:31499689..31503512,5	K562	blood:
2	chr22:31475364..31478247-chr22:31499584..31502277,3	MCF-7	breast:
3	chr22:31478371..31481367-chr22:31500336..31503939,6	K562	blood:
4	chr22:31479541..31481493-chr22:31501222..31503741,4	MCF-7	breast:
5	chr22:31493063..31495766-chr22:31501583..31503535,2	MCF-7	breast:
6	chr22:31479652..31482728-chr22:31500685..31503831,4	MCF-7	breast:
7	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
8	chr22:31482757..31485252-chr22:31500477..31503688,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198832	TF binding region
ENSG00000183963	Chromatin interaction
ENSG00000273387	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11702887	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703938	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11703987	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11704170	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11704373	0.84[AMR][1000 genomes]
rs11704428	0.84[AMR][1000 genomes]
rs11704577	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11704692	0.84[AMR][1000 genomes]
rs11704852	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704901	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11704907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705035	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35541583	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73406153	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	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
5	nsv914977	chr22:31477563-31514477	Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31483200-31502000	Strong transcription	NHEK	skin
2	chr22:31484000-31502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr22:31485200-31503000	Weak transcription	Fetal Kidney	kidney
4	chr22:31485800-31502800	Weak transcription	GM12878-XiMat	blood
5	chr22:31490800-31502000	Weak transcription	Brain Substantia Nigra	brain
6	chr22:31491400-31502000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
7	chr22:31491800-31502600	Weak transcription	Liver	Liver
8	chr22:31495400-31502600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:31495800-31502000	Weak transcription	Brain Anterior Caudate	brain
10	chr22:31496000-31503000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr22:31496400-31502800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr22:31497400-31502000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr22:31497400-31502400	Weak transcription	Small Intestine	intestine
14	chr22:31497400-31503000	Weak transcription	Dnd41	blood
15	chr22:31497800-31502600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
16	chr22:31498000-31502200	Genic enhancers	Fetal Stomach	stomach
17	chr22:31498200-31502200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:31498600-31502200	Weak transcription	A549	lung
19	chr22:31498600-31502600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr22:31498600-31503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:31498600-31503000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:31498600-31503000	Weak transcription	Thymus	Thymus
23	chr22:31498800-31502800	Weak transcription	Fetal Lung	lung
24	chr22:31498800-31503000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:31499000-31502800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr22:31499200-31502200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:31499200-31502200	Weak transcription	Stomach Mucosa	stomach
28	chr22:31499200-31502400	Weak transcription	HepG2	liver
29	chr22:31499200-31503000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:31499400-31502000	Strong transcription	Lung	lung
31	chr22:31499400-31502600	Weak transcription	K562	blood
32	chr22:31499400-31502800	Weak transcription	Psoas Muscle	Psoas
33	chr22:31499600-31503000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr22:31500000-31502000	Genic enhancers	Fetal Muscle Leg	muscle
35	chr22:31500000-31502000	Genic enhancers	Pancreas	Pancrea
36	chr22:31500000-31502200	Weak transcription	HSMM	muscle
37	chr22:31500000-31502600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr22:31500200-31502200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr22:31500200-31502200	Genic enhancers	HMEC	breast
40	chr22:31500200-31502400	Genic enhancers	Fetal Intestine Small	intestine
41	chr22:31500200-31502600	Genic enhancers	Spleen	Spleen
42	chr22:31500200-31503200	Weak transcription	Hela-S3	cervix
43	chr22:31500400-31502000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr22:31500400-31502200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr22:31500600-31502000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr22:31500600-31502400	Weak transcription	HUVEC	blood vessel
47	chr22:31500800-31502000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr22:31500800-31502400	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
49	chr22:31500800-31502800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr22:31501000-31502200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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