Variant report

Variant	rs8191511
Chromosome Location	chr8:11626422-11626423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr8:11626345-11626652	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:11626407-11627697	GM12892	blood:	n/a	n/a
3	NFIC	chr8:11625925-11626759	GM12878	blood:	n/a	n/a
4	MXI1	chr8:11626416-11628775	IMR90	lung:	n/a	chr8:11627748-11627757 chr8:11627707-11627716
5	FOXM1	chr8:11625862-11626498	GM12878	blood:	n/a	n/a
6	RELA	chr8:11625966-11626635	GM18951	blood:	n/a	n/a
7	RELA	chr8:11626017-11626598	GM12878	blood:	n/a	n/a
8	RELA	chr8:11625982-11626529	GM19193	blood:	n/a	n/a
9	RUNX3	chr8:11626363-11626701	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:11625781-11627973	GM19099	blood:	n/a	n/a
11	RELA	chr8:11625714-11626598	GM12891	blood:	n/a	n/a
12	HCFC1	chr8:11626403-11628066	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11625966..11628578-chr8:11704558..11706433,2	MCF-7	breast:
2	chr8:11625866..11628884-chr8:11724599..11727626,3	MCF-7	breast:
3	chr8:11625684..11627765-chr8:11645905..11648269,2	K562	blood:
4	chr8:11625747..11629309-chr8:11658765..11661345,4	K562	blood:
5	chr8:11625432..11628777-chr8:11664764..11667821,4	MCF-7	breast:
6	chr8:11625967..11628744-chr8:11645697..11648212,2	MCF-7	breast:
7	chr8:11624784..11628111-chr8:11660073..11663416,4	MCF-7	breast:

No data

Variant related genes	Relation type
NEIL2	TF binding region
ENSG00000227203	Chromatin interaction
ENSG00000164733	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000255046	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17754589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1883016	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2010628	0.81[EUR][1000 genomes]
rs55865839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66651545	0.82[EUR][1000 genomes]
rs67123108	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7000800	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8191528	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8191534	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8191604	0.82[AMR][1000 genomes]
rs8191642	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8191649	0.84[AMR][1000 genomes]
rs904009	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv890360	chr8:11619163-11639991	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8191511	NEIL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11615800-11626800	Weak transcription	Left Ventricle	heart
2	chr8:11617000-11626800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:11617400-11626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:11618000-11626800	Weak transcription	Fetal Intestine Large	intestine
5	chr8:11619600-11626800	Weak transcription	Gastric	stomach
6	chr8:11620400-11626600	Weak transcription	Right Ventricle	heart
7	chr8:11621200-11626600	Weak transcription	Fetal Intestine Small	intestine
8	chr8:11622400-11626800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:11623400-11626600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:11623400-11626600	Weak transcription	Brain Anterior Caudate	brain
11	chr8:11623400-11626600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:11623400-11626600	Weak transcription	Brain Substantia Nigra	brain
13	chr8:11623400-11626600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:11623400-11626600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:11623400-11626800	Weak transcription	Spleen	Spleen
16	chr8:11623600-11626600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:11623600-11626600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:11623600-11626600	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:11623600-11626600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:11623600-11626600	Weak transcription	Fetal Brain Male	brain
21	chr8:11623600-11626600	Weak transcription	A549	lung
22	chr8:11623600-11626800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:11623600-11626800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:11623600-11626800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:11623600-11626800	Weak transcription	Brain Angular Gyrus	brain
26	chr8:11623600-11626800	Weak transcription	Ovary	ovary
27	chr8:11623600-11626800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr8:11623800-11626600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:11623800-11626600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:11623800-11626600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:11623800-11626600	Weak transcription	NH-A	brain
32	chr8:11623800-11626800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:11623800-11626800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:11623800-11626800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:11623800-11626800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:11623800-11626800	Weak transcription	Fetal Kidney	kidney
37	chr8:11623800-11626800	Weak transcription	HMEC	breast
38	chr8:11623800-11627400	Weak transcription	Fetal Heart	heart
39	chr8:11624000-11626800	Weak transcription	NHLF	lung
40	chr8:11624400-11626800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:11625400-11626600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:11625400-11626600	Flanking Active TSS	GM12878-XiMat	blood
43	chr8:11625600-11626600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:11625600-11626800	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr8:11625600-11627000	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr8:11625800-11626600	Enhancers	Fetal Muscle Trunk	muscle
47	chr8:11625800-11626800	Flanking Active TSS	Dnd41	blood
48	chr8:11625800-11627000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:11626000-11626600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr8:11626000-11626600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links