Variant report

Variant	rs12542836
Chromosome Location	chr8:11662376-11662377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr8:11662342-11662504	K562	blood:	n/a	n/a
2	POLR2A	chr8:11661658-11662393	HepG2	liver:	n/a	n/a
3	MAX	chr8:11662350-11662751	K562	blood:	n/a	chr8:11662564-11662574
4	TEAD4	chr8:11662335-11663439	K562	blood:	n/a	n/a
5	FOS	chr8:11662319-11662966	HUVEC	blood vessel:	n/a	chr8:11662483-11662494
6	MAX	chr8:11662357-11662743	NB4	blood:	n/a	chr8:11662564-11662574
7	ZNF384	chr8:11662264-11662718	K562	blood:	n/a	n/a
8	ZNF263	chr8:11662354-11663415	HEK293-T-REx	kidney:	n/a	n/a
9	BHLHE40	chr8:11662365-11662751	K562	blood:	n/a	n/a
10	FOSL2	chr8:11662343-11662665	HepG2	liver:	n/a	n/a
11	POLR2A	chr8:11659475-11672720	K562	blood:	n/a	n/a
12	JUND	chr8:11662316-11662710	K562	blood:	n/a	n/a
13	POLR2A	chr8:11662085-11662689	K562	blood:	n/a	n/a
14	JUN	chr8:11662355-11662714	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11657053..11659855-chr8:11661482..11664070,3	K562	blood:
2	chr8:11662199..11664746-chr8:11796348..11798802,2	K562	blood:
3	chr8:11658229..11662389-chr8:11662980..11669380,10	MCF-7	breast:
4	chr8:11652965..11656305-chr8:11661939..11664556,3	K562	blood:
5	chr8:11624784..11628111-chr8:11660073..11663416,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255046	TF binding region
FDFT1	TF binding region
ENSG00000154328	Chromatin interaction
ENSG00000079459	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10089013	0.83[AFR][1000 genomes]
rs10093052	1.00[AMR][1000 genomes]
rs10096372	1.00[AMR][1000 genomes]
rs10108499	1.00[AMR][1000 genomes]
rs28391704	0.85[AFR][1000 genomes]
rs28615101	0.83[AFR][1000 genomes]
rs28699010	1.00[AMR][1000 genomes]
rs28735487	1.00[AMR][1000 genomes]
rs57575026	0.83[AFR][1000 genomes]
rs73663010	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
11	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
12	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
13	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
14	nsv1032739	chr8:11643803-11716473	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv890363	chr8:11647941-11681825	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv890364	chr8:11654796-11671041	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 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	chr8:11658400-11666800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:11659000-11663400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr8:11659200-11663200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:11659400-11662600	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:11659400-11663800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr8:11659600-11662400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:11659600-11662400	Active TSS	Small Intestine	intestine
8	chr8:11659600-11662600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr8:11659600-11662600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:11659600-11663000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr8:11659600-11663200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:11659600-11663200	Active TSS	Fetal Brain Female	brain
13	chr8:11659600-11663400	Active TSS	Fetal Brain Male	brain
14	chr8:11659600-11663400	Active TSS	NHLF	lung
15	chr8:11659600-11663600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:11659600-11664200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr8:11659600-11664200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:11659800-11662400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:11659800-11662600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:11659800-11662600	Active TSS	HSMMtube	muscle
21	chr8:11659800-11662600	Active TSS	K562	blood
22	chr8:11659800-11662800	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr8:11659800-11663600	Active TSS	GM12878-XiMat	blood
24	chr8:11659800-11664200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:11660000-11662400	Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr8:11660000-11662400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:11660000-11662400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr8:11660400-11663400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:11660400-11668200	Transcr. at gene 5' and 3'	Dnd41	blood
30	chr8:11660800-11662400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:11660800-11664400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:11660800-11665800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:11660800-11666000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:11661000-11662800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:11661000-11663000	Flanking Active TSS	Fetal Thymus	thymus
36	chr8:11661000-11663000	Enhancers	Spleen	Spleen
37	chr8:11661000-11663600	Weak transcription	Pancreas	Pancrea
38	chr8:11661000-11667200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:11661200-11663600	Enhancers	Stomach Mucosa	stomach
40	chr8:11661200-11664400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:11661200-11665400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:11661200-11665400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr8:11661400-11664000	Enhancers	Adipose Nuclei	Adipose
44	chr8:11661400-11664200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
45	chr8:11661400-11664200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr8:11661400-11664800	Weak transcription	Right Ventricle	heart
47	chr8:11661400-11665400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr8:11661400-11665400	Weak transcription	Aorta	Aorta
49	chr8:11661600-11662600	Active TSS	Rectal Smooth Muscle	rectum
50	chr8:11661600-11662800	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links