Variant report

Variant	rs11705137
Chromosome Location	chr22:31501788-31501789
allele	C/T
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:8)
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	MAZ	chr22:31501611-31504230	IMR90	lung:	n/a	n/a
2	POLR2A	chr22:31499145-31502344	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr22:31500750-31502618	U87	brain:	n/a	n/a
4	POLR2A	chr22:31501568-31501949	HCT-116	colon:	n/a	n/a
5	POLR2A	chr22:31501732-31502043	HepG2	liver:	n/a	n/a
6	POLR2A	chr22:31500723-31502027	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr22:31497852-31504039	U87	brain:	n/a	n/a
8	POLR2A	chr22:31498259-31501804	K562	blood:	n/a	n/a
9	POLR2A	chr22:31500724-31502385	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr22:31499154-31503129	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr22:31501569-31501837	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr22:31501751-31501835	ProgFib	skin:	n/a	n/a
13	MXI1	chr22:31501535-31504386	IMR90	lung:	n/a	n/a
14	POLR2A	chr22:31497892-31504019	U87	brain:	n/a	n/a
15	POLR2A	chr22:31501599-31502788	MCF-7	breast:	n/a	n/a
16	POLR2A	chr22:31497526-31504006	IMR90	lung:	n/a	n/a
17	POLR2A	chr22:31501731-31501890	K562	blood:	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
ENSG00000273387	Chromatin interaction
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1004243	0.95[LWK][hapmap];0.88[MKK][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs11089488	0.91[AFR][1000 genomes]
rs11089489	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703403	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11703478	0.87[AFR][1000 genomes]
rs12167220	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170688	0.84[ASN][1000 genomes]
rs12330010	0.88[AFR][1000 genomes]
rs13053329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13054770	0.91[AFR][1000 genomes]
rs1807739	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017301	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413016	1.00[CHD][hapmap]
rs35657209	0.89[AFR][1000 genomes]
rs4281997	0.85[AFR][1000 genomes]
rs4820934	0.81[YRI][hapmap]
rs4820938	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820939	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820941	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753446	1.00[CHD][hapmap]
rs62236155	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs737930	0.84[MKK][hapmap];0.81[YRI][hapmap]
rs8135353	1.00[CHB][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes]
rs917208	1.00[CHD][hapmap]
rs9621184	0.81[ASW][hapmap];1.00[CHB][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs9621185	1.00[CHB][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes]
rs9621187	0.88[AFR][1000 genomes]
rs9621188	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11705137	TBC1D10A	cis	cerebellum	SCAN
rs11705137	SFI1	cis	cerebellum	SCAN
rs11705137	OSBP2	cis	parietal	SCAN
rs11705137	SELM	cis	parietal	SCAN
rs11705137	MN1	cis	parietal	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

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	chr22:31493800-31501800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:31495200-31501800	Strong transcription	Left Ventricle	heart
10	chr22:31495400-31502600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:31495800-31502000	Weak transcription	Brain Anterior Caudate	brain
12	chr22:31496000-31503000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:31496400-31502800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr22:31497400-31502000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr22:31497400-31502400	Weak transcription	Small Intestine	intestine
16	chr22:31497400-31503000	Weak transcription	Dnd41	blood
17	chr22:31497800-31502600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
18	chr22:31498000-31501800	Genic enhancers	Placenta	Placenta
19	chr22:31498000-31502200	Genic enhancers	Fetal Stomach	stomach
20	chr22:31498200-31502200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr22:31498600-31502200	Weak transcription	A549	lung
22	chr22:31498600-31502600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr22:31498600-31503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:31498600-31503000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr22:31498600-31503000	Weak transcription	Thymus	Thymus
26	chr22:31498800-31501800	Weak transcription	Right Atrium	heart
27	chr22:31498800-31502800	Weak transcription	Fetal Lung	lung
28	chr22:31498800-31503000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr22:31499000-31502800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr22:31499200-31502200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:31499200-31502200	Weak transcription	Stomach Mucosa	stomach
32	chr22:31499200-31502400	Weak transcription	HepG2	liver
33	chr22:31499200-31503000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr22:31499400-31502000	Strong transcription	Lung	lung
35	chr22:31499400-31502600	Weak transcription	K562	blood
36	chr22:31499400-31502800	Weak transcription	Psoas Muscle	Psoas
37	chr22:31499600-31503000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:31500000-31502000	Genic enhancers	Fetal Muscle Leg	muscle
39	chr22:31500000-31502000	Genic enhancers	Pancreas	Pancrea
40	chr22:31500000-31502200	Weak transcription	HSMM	muscle
41	chr22:31500000-31502600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr22:31500200-31501800	Genic enhancers	Fetal Muscle Trunk	muscle
43	chr22:31500200-31502200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr22:31500200-31502200	Genic enhancers	HMEC	breast
45	chr22:31500200-31502400	Genic enhancers	Fetal Intestine Small	intestine
46	chr22:31500200-31502600	Genic enhancers	Spleen	Spleen
47	chr22:31500200-31503200	Weak transcription	Hela-S3	cervix
48	chr22:31500400-31501800	Genic enhancers	Ovary	ovary
49	chr22:31500400-31502000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr22:31500400-31502200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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