Variant report

Variant	rs57751039
Chromosome Location	chr8:6265312-6265313
allele	A/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	POLR2A	chr8:6262542-6265893	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr8:6262909-6265387	GM12891	blood:	n/a	n/a
3	MXI1	chr8:6263003-6265606	SK-N-SH	brain:	n/a	n/a
4	MYC	chr8:6264608-6265400	MCF10A-Er-Src	breast:	n/a	chr8:6265043-6265056
5	SIN3A	chr8:6263030-6265412	H1-hESC	embryonic stem cell:	n/a	chr8:6263038-6263052
6	WRNIP1	chr8:6264770-6265351	GM12878	blood:	n/a	n/a
7	REST	chr8:6263027-6265353	H1-neurons	neurons:	n/a	chr8:6263037-6263051 chr8:6263037-6263057 chr8:6264088-6264101 chr8:6264963-6264972 chr8:6263037-6263057
8	POLR2A	chr8:6262506-6265420	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:6262974..6265715-chr8:6564962..6567789,4	MCF-7	breast:
2	chr17:49196178..49198302-chr8:6264048..6265705,2	K562	blood:
3	chr8:6262444..6265412-chr8:6565205..6567179,2	K562	blood:
4	chr8:6263912..6265972-chr8:6565205..6568456,4	K562	blood:

Variant related genes	Relation type
ENSG00000246089	TF binding region
ENSG00000008294	Chromatin interaction
ENSG00000249898	Chromatin interaction
ENSG00000155189	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12678818	0.80[AMR][1000 genomes]
rs1550696	0.95[ASN][1000 genomes]
rs1867387	0.80[AMR][1000 genomes]
rs2440450	0.82[ASN][1000 genomes]
rs35777339	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56769923	0.80[AMR][1000 genomes]
rs57811291	0.80[AMR][1000 genomes]
rs59681172	0.80[AMR][1000 genomes]
rs9644300	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1018782	chr8:5984032-6284373	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv949501	chr8:6081704-6303511	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv890041	chr8:6084048-6274963	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1024103	chr8:6124125-6303511	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1026950	chr8:6127991-6303511	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1025734	chr8:6128828-6303511	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1022940	chr8:6128828-6304814	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv527005	chr8:6129051-6287170	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1028552	chr8:6129221-6303511	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv1021800	chr8:6144798-6286635	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1026004	chr8:6144798-6307692	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv539431	chr8:6144798-6307692	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv933107	chr8:6173244-6312807	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv482828	chr8:6182711-6355710	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	nsv1018882	chr8:6204857-6289937	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv890055	chr8:6237397-6351252	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv531468	chr8:6248682-6309194	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv1033935	chr8:6262180-6275753	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	nsv524404	chr8:6263083-6291485	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6262200-6265400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:6262800-6265400	Active TSS	H1 Cell Line	embryonic stem cell
3	chr8:6262800-6265400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr8:6262800-6265400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:6262800-6265600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:6263000-6265400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr8:6263000-6265400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:6263000-6265400	Active TSS	Brain Germinal Matrix	brain
9	chr8:6263000-6265400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr8:6263000-6265600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr8:6263200-6265400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:6263200-6265400	Active TSS	Psoas Muscle	Psoas
13	chr8:6263200-6265600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:6263400-6265400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:6263400-6265400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:6264600-6265400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr8:6264600-6265400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr8:6264600-6265400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr8:6264600-6265400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:6264600-6265400	Flanking Active TSS	HUVEC	blood vessel
21	chr8:6264800-6265400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:6264800-6265400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr8:6264800-6265400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:6264800-6265400	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr8:6264800-6265400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr8:6264800-6265400	Flanking Active TSS	Fetal Thymus	thymus
27	chr8:6264800-6265400	Enhancers	Stomach Mucosa	stomach
28	chr8:6264800-6265400	Flanking Active TSS	NH-A	brain
29	chr8:6264800-6265400	Flanking Active TSS	Osteobl	bone
30	chr8:6264800-6265600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:6264800-6265600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:6264800-6265600	Flanking Active TSS	Dnd41	blood
33	chr8:6265000-6265400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:6265000-6265400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr8:6265000-6265400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:6265000-6265400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr8:6265000-6265400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:6265000-6265400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr8:6265000-6265400	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr8:6265000-6265400	Flanking Active TSS	Fetal Brain Female	brain
41	chr8:6265000-6265400	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr8:6265000-6265400	Enhancers	Placenta	Placenta
43	chr8:6265000-6265400	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr8:6265000-6265400	Flanking Active TSS	Hela-S3	cervix
45	chr8:6265000-6265400	Flanking Active TSS	NHLF	lung
46	chr8:6265000-6265600	Enhancers	Primary B cells from cord blood	blood
47	chr8:6265000-6265600	Enhancers	Fetal Brain Male	brain
48	chr8:6265000-6265600	Flanking Active TSS	HepG2	liver
49	chr8:6265000-6265600	Flanking Active TSS	NHEK	skin
50	chr8:6265000-6266800	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links