Variant report

Variant	rs531564
Chromosome Location	chr8:9760699-9760700
allele	C/G
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	SIN3A	chr8:9759698-9764536	H1-hESC	embryonic stem cell:	n/a	chr8:9764123-9764136 chr8:9761549-9761560 chr8:9761633-9761646 chr8:9762434-9762445 chr8:9760165-9760174
2	TEAD4	chr8:9760698-9761116	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:9760608-9761265	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:9759634-9765032	H1-neurons	neurons:	n/a	n/a
5	ZNF263	chr8:9759669-9760782	HEK293-T-REx	kidney:	n/a	chr8:9759782-9759791 chr8:9760391-9760400
6	REST	chr8:9760486-9764444	H1-neurons	neurons:	n/a	chr8:9763658-9763671 chr8:9760877-9760897 chr8:9761543-9761556 chr8:9764262-9764271 chr8:9761633-9761646
7	POLR2A	chr8:9758404-9764972	H1-neurons	neurons:	n/a	n/a
8	TAF1	chr8:9760440-9764605	H1-neurons	neurons:	n/a	n/a
9	CTBP2	chr8:9760529-9762741	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr8:9759530-9764640	SK-N-SH	brain:	n/a	n/a
11	REST	chr8:9759431-9765302	H1-neurons	neurons:	n/a	chr8:9763658-9763671 chr8:9760877-9760897 chr8:9761543-9761556 chr8:9764262-9764271 chr8:9761633-9761646
12	CHD2	chr8:9760234-9761256	H1-hESC	embryonic stem cell:	n/a	chr8:9760797-9760807
13	TAF1	chr8:9760457-9764946	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr8:9760661-9761921	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP1L1-5	chr8:9760677-9760987	ENSG00000253230
2	lnc-RP1L1-5	chr8:9757574-9760907	ENSG00000253230
3	lnc-RP1L1-5	chr8:9758199-9760839	ENSG00000253230
4	lnc-RP1L1-5	chr8:9758199-9760888	NONHSAT124969
5	lnc-RP1L1-5	chr8:9758199-9760897	NONHSAT124970
6	lnc-RP1L1-5	chr8:9758065-9760897	NONHSAT124971
7	lnc-RP1L1-5	chr8:9758941-9760901	NONHSAT124972

Variant related genes	Relation type
LINC00599	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1708879	0.82[YRI][hapmap]
rs17678185	0.83[CEU][hapmap]
rs491364	1.00[ASW][hapmap]
rs592420	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs62489494	0.91[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9757800-9761000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
2	chr8:9758000-9761600	Active TSS	Brain Angular Gyrus	brain
3	chr8:9759600-9761200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:9759600-9764000	Active TSS	Fetal Brain Male	brain
5	chr8:9759800-9760800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
6	chr8:9759800-9761000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:9760000-9760800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:9760000-9760800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
9	chr8:9760000-9761200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
10	chr8:9760000-9762800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
11	chr8:9760200-9760800	Enhancers	Gastric	stomach
12	chr8:9760200-9761000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:9760200-9761200	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:9760200-9761800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:9760200-9762600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:9760200-9765000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr8:9760200-9765400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr8:9760200-9765800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr8:9760400-9761000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:9760400-9761200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:9760400-9762200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr8:9760400-9762400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr8:9760400-9764600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:9760400-9764600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
25	chr8:9760400-9764800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr8:9760600-9760800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:9760600-9760800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr8:9760600-9760800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:9760600-9760800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
30	chr8:9760600-9760800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
31	chr8:9760600-9760800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:9760600-9760800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
33	chr8:9760600-9760800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
34	chr8:9760600-9760800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
35	chr8:9760600-9760800	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
36	chr8:9760600-9760800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr8:9760600-9760800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
38	chr8:9760600-9760800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr8:9760600-9760800	Bivalent Enhancer	Lung	lung
40	chr8:9760600-9760800	Bivalent Enhancer	Ovary	ovary
41	chr8:9760600-9761000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:9760600-9761000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:9760600-9761000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:9760600-9761000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
45	chr8:9760600-9761000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
46	chr8:9760600-9761000	Bivalent Enhancer	NHEK	skin
47	chr8:9760600-9761200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:9760600-9761200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
49	chr8:9760600-9761200	Bivalent Enhancer	Psoas Muscle	Psoas
50	chr8:9760600-9761200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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