Variant report

Variant	rs13268006
Chromosome Location	chr8:9006164-9006165
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESRRA	chr8:9005888-9006530	GM12878	blood:	n/a	chr8:9006266-9006276 chr8:9006265-9006278 chr8:9006262-9006278 chr8:9006266-9006276
2	GATA2	chr8:9005623-9006315	HUVEC	blood vessel:	n/a	chr8:9005958-9005965
3	FOS	chr8:9005271-9006235	MCF10A-Er-Src	breast:	n/a	chr8:9005873-9005882 chr8:9005872-9005882 chr8:9005871-9005882 chr8:9005872-9005882 chr8:9005872-9005882
4	POLR2A	chr8:9003483-9006561	HUVEC	blood vessel:	n/a	n/a
5	FOSL2	chr8:9005556-9006212	SK-N-SH	brain:	n/a	chr8:9005873-9005882 chr8:9005872-9005882 chr8:9005872-9005882 chr8:9005872-9005882
6	POLR2A	chr8:9004836-9006516	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr8:9005670-9006207	HUVEC	blood vessel:	n/a	chr8:9005873-9005882 chr8:9005872-9005882 chr8:9005871-9005882 chr8:9005872-9005882 chr8:9005872-9005882
8	JUND	chr8:9005586-9006193	SK-N-SH	brain:	n/a	chr8:9005873-9005882 chr8:9005872-9005882 chr8:9005872-9005882 chr8:9005871-9005882 chr8:9005872-9005882
9	FOSL1	chr8:9005232-9006181	HCT-116	colon:	n/a	chr8:9005873-9005882 chr8:9005872-9005882 chr8:9005872-9005882 chr8:9005872-9005882
10	POLR2A	chr8:9005979-9006179	GM12878	blood:	n/a	n/a
11	BATF	chr8:9006027-9006330	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:9002689-9006440	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:8931608..8933862-chr8:9004172..9006310,2	MCF-7	breast:
2	chr8:9004923..9006637-chr8:9006651..9008247,2	MCF-7	breast:
3	chr8:8928456..8932656-chr8:9005556..9008875,5	MCF-7	breast:
4	chr8:8935014..8937829-chr8:9004036..9006793,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253426	TF binding region
ENSG00000239078	Chromatin interaction
ENSG00000173281	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13251435	1.00[AFR][1000 genomes]
rs13264959	1.00[AFR][1000 genomes]
rs13268478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17703679	1.00[AFR][1000 genomes]
rs71514530	1.00[AFR][1000 genomes]
rs71514532	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1022328	chr8:8954003-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv610206	chr8:8961017-9162048	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active 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	22 gene(s)	inside rSNPs	diseases
7	nsv1026279	chr8:8982622-9030279	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	n/a
8	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8993800-9007400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:8994200-9007200	Weak transcription	Brain Angular Gyrus	brain
3	chr8:8994200-9007200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:8994200-9007200	Weak transcription	Fetal Brain Male	brain
5	chr8:8998600-9007200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:8998800-9007000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:8998800-9007200	Weak transcription	Fetal Kidney	kidney
8	chr8:8998800-9007200	Weak transcription	Fetal Thymus	thymus
9	chr8:8999000-9007200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:8999000-9007200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:8999200-9007000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr8:8999200-9007000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:8999200-9007000	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:8999200-9007000	Weak transcription	Fetal Lung	lung
15	chr8:8999200-9007400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:8999400-9007000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:8999400-9007000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:8999400-9007200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:8999400-9007200	Weak transcription	Gastric	stomach
20	chr8:8999800-9007000	Weak transcription	Thymus	Thymus
21	chr8:9000600-9007000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:9000800-9007200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:9003800-9006200	Active TSS	Aorta	Aorta
24	chr8:9004000-9006200	Enhancers	Lung	lung
25	chr8:9004200-9007000	Active TSS	Primary B cells from cord blood	blood
26	chr8:9004400-9006200	Active TSS	Primary hematopoietic stem cells	blood
27	chr8:9004400-9006600	Enhancers	Pancreas	Pancrea
28	chr8:9004400-9007000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr8:9004600-9006200	Enhancers	Ovary	ovary
30	chr8:9004600-9006200	Flanking Active TSS	Right Atrium	heart
31	chr8:9004600-9006400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:9004600-9007400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr8:9004800-9006200	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr8:9004800-9006200	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr8:9004800-9006400	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
36	chr8:9004800-9006400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
37	chr8:9004800-9006400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:9004800-9006400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:9004800-9006400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:9004800-9006400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr8:9004800-9006400	Flanking Active TSS	HUVEC	blood vessel
42	chr8:9004800-9006400	Enhancers	K562	blood
43	chr8:9004800-9006600	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr8:9004800-9006600	Enhancers	NH-A	brain
45	chr8:9004800-9007200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:9004800-9007200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr8:9004800-9007200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr8:9005000-9006200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr8:9005000-9006200	Enhancers	Esophagus	oesophagus
50	chr8:9005000-9006200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine

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