Variant report

Variant	rs11705064
Chromosome Location	chr22:31502187-31502188
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr22:31501961-31502228	HepG2	liver:	n/a	chr22:31502060-31502075
2	MAZ	chr22:31501611-31504230	IMR90	lung:	n/a	n/a
3	POLR2A	chr22:31499145-31502344	HUVEC	blood vessel:	n/a	n/a
4	CTCF	chr22:31502040-31502190	HBMEC	blood vessel:	n/a	n/a
5	CTCF	chr22:31502060-31502210	HAc	cerebellar:	n/a	n/a
6	CTCF	chr22:31502100-31502250	BE2_C	brain:	n/a	n/a
7	POLR2A	chr22:31500750-31502618	U87	brain:	n/a	n/a
8	CTCF	chr22:31502060-31502210	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr22:31502163-31502230	K562	blood:	n/a	n/a
10	CTCF	chr22:31502140-31502290	HCM	heart:	n/a	n/a
11	CTCF	chr22:31502040-31502190	AG04450	lung:	n/a	n/a
12	CTCF	chr22:31502080-31502230	WI-38	lung:	n/a	n/a
13	CTCF	chr22:31502120-31502270	A549	lung:	n/a	n/a
14	MAFK	chr22:31501894-31502246	IMR90	lung:	n/a	chr22:31502060-31502075
15	POLR2A	chr22:31497852-31504039	U87	brain:	n/a	n/a
16	CTCF	chr22:31502100-31502250	HPF	lung:	n/a	n/a
17	CTCF	chr22:31502060-31502210	RPTEC	kidney:	n/a	n/a
18	CTCF	chr22:31502040-31502190	HepG2	liver:	n/a	n/a
19	POLR2A	chr22:31502071-31502460	HepG2	liver:	n/a	n/a
20	CTCF	chr22:31502040-31502190	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr22:31500724-31502385	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr22:31502060-31502210	GM06990	blood:	n/a	n/a
23	CTCF	chr22:31502040-31502190	NHLF	lung:	n/a	n/a
24	CTCF	chr22:31501963-31502246	IMR90	lung:	n/a	n/a
25	POLR2A	chr22:31499154-31503129	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr22:31502120-31502270	MCF-7	breast:	n/a	n/a
27	RAD21	chr22:31501982-31502221	IMR90	lung:	n/a	n/a
28	CTCF	chr22:31502100-31502250	GM12878	blood:	n/a	n/a
29	CTCF	chr22:31502100-31502250	HVMF	connective:	n/a	n/a
30	CTCF	chr22:31502060-31502210	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr22:31502160-31502310	HFF-Myc	foreskin:	n/a	n/a
32	MXI1	chr22:31501535-31504386	IMR90	lung:	n/a	n/a
33	POLR2A	chr22:31497892-31504019	U87	brain:	n/a	n/a
34	RAD21	chr22:31501910-31502276	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAFK	chr22:31501973-31502238	H1-hESC	embryonic stem cell:	n/a	chr22:31502060-31502075
36	CTCF	chr22:31502060-31502210	WERI-Rb-1	eye:	n/a	n/a
37	POLR2A	chr22:31501599-31502788	MCF-7	breast:	n/a	n/a
38	POLR2A	chr22:31497526-31504006	IMR90	lung:	n/a	n/a
39	CTCF	chr22:31502060-31502210	HFF	foreskin:	n/a	n/a
40	CTCF	chr22:31502040-31502190	MCF-7	breast:	n/a	n/a
41	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	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703298	1.00[AFR][1000 genomes];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	1.00[AFR][1000 genomes];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	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704901	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11704907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35541583	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31484000-31502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr22:31485200-31503000	Weak transcription	Fetal Kidney	kidney
3	chr22:31485800-31502800	Weak transcription	GM12878-XiMat	blood
4	chr22:31491800-31502600	Weak transcription	Liver	Liver
5	chr22:31495400-31502600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:31496000-31503000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr22:31496400-31502800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr22:31497400-31502400	Weak transcription	Small Intestine	intestine
9	chr22:31497400-31503000	Weak transcription	Dnd41	blood
10	chr22:31497800-31502600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
11	chr22:31498000-31502200	Genic enhancers	Fetal Stomach	stomach
12	chr22:31498200-31502200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:31498600-31502200	Weak transcription	A549	lung
14	chr22:31498600-31502600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:31498600-31503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:31498600-31503000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr22:31498600-31503000	Weak transcription	Thymus	Thymus
18	chr22:31498800-31502800	Weak transcription	Fetal Lung	lung
19	chr22:31498800-31503000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:31499000-31502800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr22:31499200-31502200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:31499200-31502200	Weak transcription	Stomach Mucosa	stomach
23	chr22:31499200-31502400	Weak transcription	HepG2	liver
24	chr22:31499200-31503000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:31499400-31502600	Weak transcription	K562	blood
26	chr22:31499400-31502800	Weak transcription	Psoas Muscle	Psoas
27	chr22:31499600-31503000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:31500000-31502200	Weak transcription	HSMM	muscle
29	chr22:31500000-31502600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr22:31500200-31502200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr22:31500200-31502200	Genic enhancers	HMEC	breast
32	chr22:31500200-31502400	Genic enhancers	Fetal Intestine Small	intestine
33	chr22:31500200-31502600	Genic enhancers	Spleen	Spleen
34	chr22:31500200-31503200	Weak transcription	Hela-S3	cervix
35	chr22:31500400-31502200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:31500600-31502400	Weak transcription	HUVEC	blood vessel
37	chr22:31500800-31502400	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
38	chr22:31500800-31502800	Enhancers	Primary T cells fromperipheralblood	blood
39	chr22:31501000-31502200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr22:31501000-31502200	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr22:31501000-31502600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:31501200-31502200	Genic enhancers	Fetal Intestine Large	intestine
43	chr22:31501200-31502400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr22:31501200-31502800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
45	chr22:31501200-31502800	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr22:31501400-31502400	Weak transcription	Gastric	stomach
47	chr22:31501400-31502600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
48	chr22:31501400-31502600	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr22:31501400-31502800	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr22:31501400-31503200	Weak transcription	Fetal Heart	heart

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