Variant report

Variant	rs73307517
Chromosome Location	chr8:110347348-110347349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr8:110346084-110347424	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:110346011-110347528	K562	blood:	n/a	n/a
3	POLR2A	chr8:110345304-110347405	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD1	chr8:110345847-110347354	GM12878	blood:	n/a	n/a
5	SPI1	chr8:110346856-110347407	HL-60	blood:	n/a	chr8:110347146-110347159
6	SPI1	chr8:110346919-110347380	HL-60	blood:	n/a	chr8:110347146-110347159
7	TEAD4	chr8:110346006-110347380	K562	blood:	n/a	n/a
8	POLR2A	chr8:110344076-110347416	HUVEC	blood vessel:	n/a	n/a
9	ZNF384	chr8:110346147-110347602	K562	blood:	n/a	n/a
10	POLR2A	chr8:110345494-110347378	MCF10A-Er-Src	breast:	n/a	n/a
11	IRF1	chr8:110346075-110347495	K562	blood:	n/a	n/a
12	POLR2A	chr8:110346156-110347402	HepG2	liver:	n/a	n/a
13	SIN3A	chr8:110345290-110347409	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr8:110345588-110347581	HepG2	liver:	n/a	n/a
15	MXI1	chr8:110344615-110347390	IMR90	lung:	n/a	n/a
16	POLR2A	chr8:110345397-110347455	GM12891	blood:	n/a	n/a
17	CHD1	chr8:110346616-110347401	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr8:110345481-110347561	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr8:110346034-110347417	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr8:110344683-110347572	IMR90	lung:	n/a	n/a
21	MXI1	chr8:110344541-110347421	SK-N-SH	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:110346229..110349558-chr8:110551131..110555531,7	K562	blood:
2	chr8:110344786..110348564-chr8:110349076..110353866,8	MCF-7	breast:
3	chr8:109930677..109932392-chr8:110345259..110348256,2	MCF-7	breast:
4	chr8:110345039..110348121-chr8:110985396..110989742,4	MCF-7	breast:
5	chr8:110345043..110348121-chr8:110552187..110555580,5	K562	blood:
6	chr8:110344871..110348245-chr8:110549404..110554651,7	MCF-7	breast:
7	chr8:110344899..110348479-chr8:110652629..110655762,4	MCF-7	breast:
8	chr8:109259359..109262285-chr8:110346380..110348055,2	K562	blood:

No data

Variant related genes	Relation type
NUDCD1	TF binding region
ENY2	TF binding region
ENSG00000255402	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000147642	Chromatin interaction
ENSG00000253796	Chromatin interaction
ENSG00000104408	Chromatin interaction
ENSG00000164794	Chromatin interaction
ENSG00000147654	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73305455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73307521	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73307540	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317499	1.00[AMR][1000 genomes]
rs73319405	1.00[AMR][1000 genomes]
rs7815019	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv891280	chr8:110346363-110465481	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr8:110343800-110347600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr8:110344000-110348000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:110344200-110347600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr8:110344200-110348000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:110344400-110348400	Active TSS	Right Ventricle	heart
6	chr8:110344600-110347400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:110344600-110347600	Active TSS	HSMMtube	muscle
8	chr8:110344600-110347600	Active TSS	NHLF	lung
9	chr8:110344600-110348200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:110344800-110347400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr8:110344800-110347600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:110344800-110347600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:110344800-110347600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr8:110344800-110347600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr8:110344800-110348000	Active TSS	Right Atrium	heart
16	chr8:110345000-110347400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:110345000-110347400	Active TSS	Thymus	Thymus
18	chr8:110345000-110347600	Active TSS	H1 Cell Line	embryonic stem cell
19	chr8:110345000-110347600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:110345000-110347600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:110345000-110347600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr8:110345000-110347600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:110345000-110347600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:110345000-110347600	Active TSS	HSMM	muscle
25	chr8:110345000-110347600	Active TSS	NHDF-Ad	bronchial
26	chr8:110345000-110347800	Active TSS	Psoas Muscle	Psoas
27	chr8:110345000-110348000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:110345000-110348000	Active TSS	K562	blood
29	chr8:110345000-110348200	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr8:110345000-110348200	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr8:110345000-110348200	Active TSS	GM12878-XiMat	blood
32	chr8:110345200-110347400	Active TSS	Fetal Stomach	stomach
33	chr8:110345200-110347600	Active TSS	Muscle Satellite Cultured Cells	--
34	chr8:110345200-110347600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:110345200-110347600	Active TSS	Fetal Intestine Large	intestine
36	chr8:110345200-110347600	Active TSS	Fetal Lung	lung
37	chr8:110345200-110347600	Active TSS	Fetal Muscle Leg	muscle
38	chr8:110345200-110347600	Active TSS	Fetal Thymus	thymus
39	chr8:110345200-110347600	Active TSS	A549	lung
40	chr8:110345200-110347800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:110345200-110347800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:110345200-110347800	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr8:110345200-110348000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:110345200-110348000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:110345400-110347400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:110345400-110347400	Active TSS	Aorta	Aorta
47	chr8:110345400-110347400	Active TSS	Colonic Mucosa	Colon
48	chr8:110345400-110347400	Active TSS	Fetal Heart	heart
49	chr8:110345400-110347400	Active TSS	Fetal Kidney	kidney
50	chr8:110345400-110347400	Active TSS	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links