Variant report

Variant	rs58172894
Chromosome Location	chr8:67975508-67975509
allele	C/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	POLR2A	chr8:67973787-67977788	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr8:67975009-67975668	K562	blood:	n/a	n/a
3	MXI1	chr8:67973076-67975614	SK-N-SH	brain:	n/a	n/a
4	CEBPB	chr8:67975440-67975790	MCF-7	breast:	n/a	chr8:67975570-67975581
5	MAX	chr8:67973836-67977504	NB4	blood:	n/a	chr8:67975164-67975173 chr8:67976548-67976558 chr8:67975165-67975172
6	MYC	chr8:67973766-67975906	K562	blood:	n/a	chr8:67975164-67975173 chr8:67975165-67975172
7	HEY1	chr8:67975360-67975689	K562	blood:	n/a	n/a
8	ELF1	chr8:67975450-67975720	HepG2	liver:	n/a	chr8:67975545-67975558
9	POLR2A	chr8:67975426-67975576	HepG2	liver:	n/a	n/a
10	CEBPB	chr8:67975440-67975754	ECC-1	luminal epithelium:	n/a	chr8:67975570-67975581
11	HEY1	chr8:67974052-67975939	HepG2	liver:	n/a	n/a
12	MYC	chr8:67973917-67977646	NB4	blood:	n/a	chr8:67975164-67975173 chr8:67976548-67976558 chr8:67975165-67975172
13	POLR2A	chr8:67974003-67975974	K562	blood:	n/a	n/a
14	CEBPB	chr8:67975305-67975947	K562	blood:	n/a	chr8:67975570-67975581
15	POLR2A	chr8:67975378-67975891	HCT-116	colon:	n/a	n/a
16	CEBPB	chr8:67975296-67976097	A549	lung:	n/a	chr8:67975570-67975581
17	CEBPB	chr8:67975456-67975677	HepG2	liver:	n/a	chr8:67975570-67975581
18	CEBPD	chr8:67975477-67975696	HepG2	liver:	n/a	n/a
19	POLR2A	chr8:67971430-67977567	K562	blood:	n/a	n/a
20	POLR2A	chr8:67973813-67977399	Hela-S3	cervix:	n/a	n/a
21	ZNF384	chr8:67974285-67975863	K562	blood:	n/a	n/a
22	TCF12	chr8:67975412-67977154	A549	lung:	n/a	chr8:67976507-67976517
23	HCFC1	chr8:67973439-67977496	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr8:67975289-67975862	K562	blood:	n/a	chr8:67975570-67975581
25	CEBPB	chr8:67975384-67975704	K562	blood:	n/a	chr8:67975570-67975581
26	CEBPB	chr8:67975404-67975854	ECC-1	luminal epithelium:	n/a	chr8:67975570-67975581
27	MAX	chr8:67975323-67975576	K562	blood:	n/a	n/a
28	POLR2A	chr8:67973959-67975593	GM12892	blood:	n/a	n/a
29	ZNF384	chr8:67975226-67975786	GM12878	blood:	n/a	n/a
30	MYC	chr8:67975377-67975766	MCF10A-Er-Src	breast:	n/a	n/a
31	CEBPB	chr8:67975393-67975754	HepG2	liver:	n/a	chr8:67975570-67975581
32	POLR2A	chr8:67973804-67975677	K562	blood:	n/a	n/a
33	ELF1	chr8:67975463-67975827	HepG2	liver:	n/a	chr8:67975545-67975558
34	POLR2A	chr8:67973870-67976986	HL-60	blood:	n/a	n/a
35	TAF1	chr8:67975361-67975637	K562	blood:	n/a	n/a
36	POLR2A	chr8:67973440-67977421	SK-N-MC	brain:	n/a	n/a
37	POLR2A	chr8:67973944-67977161	HepG2	liver:	n/a	n/a
38	POLR2A	chr8:67973731-67977047	GM12878	blood:	n/a	n/a
39	ELF1	chr8:67975380-67975744	K562	blood:	n/a	chr8:67975545-67975558
40	CEBPB	chr8:67975388-67975969	A549	lung:	n/a	chr8:67975570-67975581
41	POLR2A	chr8:67975178-67975580	K562	blood:	n/a	n/a
42	POLR2A	chr8:67973782-67975918	K562	blood:	n/a	n/a
43	POLR2A	chr8:67973916-67975665	PANC-1	pancreas:	n/a	n/a
44	POLR2A	chr8:67973760-67975949	K562	blood:	n/a	n/a
45	POLR2A	chr8:67973784-67977480	K562	blood:	n/a	n/a
46	POLR2A	chr8:67975477-67975677	MCF10A-Er-Src	breast:	n/a	n/a
47	GTF3C2	chr8:67974287-67975934	Hela-S3	cervix:	n/a	n/a
48	UBTF	chr8:67975406-67975904	K562	blood:	n/a	n/a
49	CEBPB	chr8:67975484-67975713	H1-hESC	embryonic stem cell:	n/a	chr8:67975570-67975581
50	CEBPB	chr8:67975443-67975769	A549	lung:	n/a	chr8:67975570-67975581

No.	Distal block	Cell Line	Cell type
1	chr8:67586088..67588467-chr8:67974853..67976503,2	K562	blood:
2	chr8:67579804..67582751-chr8:67973278..67976626,5	K562	blood:
3	chr8:67830433..67839604-chr8:67970368..67979371,24	MCF-7	breast:
4	chr4:47464764..47466968-chr8:67973543..67975836,2	MCF-7	breast:
5	chr8:67828671..67841001-chr8:67968948..67981786,43	K562	blood:
6	chr8:67578996..67582751-chr8:67973027..67976256,4	K562	blood:
7	chr8:67577236..67579526-chr8:67973129..67975792,2	K562	blood:
8	chr8:67973320..67975625-chr8:67995468..67997290,2	K562	blood:
9	chr8:67830645..67839054-chr8:67969883..67975997,15	MCF-7	breast:
10	chr8:67866883..67869231-chr8:67974274..67977139,2	K562	blood:
11	chr8:67973427..67978093-chr8:68011189..68018690,8	K562	blood:
12	chr8:67827975..67841001-chr8:67966279..67982243,48	K562	blood:
13	chr8:67523268..67525543-chr8:67973888..67976833,2	MCF-7	breast:
14	chr8:67930729..67933717-chr8:67972996..67975512,2	K562	blood:

Variant related genes	Relation type
COPS5	TF binding region
CSPP1	TF binding region
ENSG00000270024	Chromatin interaction
ENSG00000254341	Chromatin interaction
ENSG00000175073	Chromatin interaction
ENSG00000245910	Chromatin interaction
ENSG00000261787	Chromatin interaction
ENSG00000121022	Chromatin interaction
ENSG00000178125	Chromatin interaction
ENSG00000213865	Chromatin interaction
ENSG00000185697	Chromatin interaction
ENSG00000252637	Chromatin interaction
ENSG00000104218	Chromatin interaction
ENSG00000169019	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1138476	0.82[AFR][1000 genomes]
rs57683177	0.82[AFR][1000 genomes]
rs59754703	0.82[AFR][1000 genomes]
rs61758876	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr8:67972000-67978000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:67972800-67976000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr8:67972800-67976200	Active TSS	Psoas Muscle	Psoas
4	chr8:67973000-67975600	Active TSS	Fetal Intestine Large	intestine
5	chr8:67973000-67978000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:67973200-67975600	Active TSS	Fetal Intestine Small	intestine
7	chr8:67973200-67975600	Active TSS	K562	blood
8	chr8:67973200-67976000	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr8:67973200-67977600	Active TSS	Colonic Mucosa	Colon
10	chr8:67973400-67975600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:67973400-67975600	Active TSS	Fetal Kidney	kidney
12	chr8:67973400-67975800	Active TSS	A549	lung
13	chr8:67973400-67976000	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr8:67973400-67976200	Active TSS	Pancreas	Pancrea
15	chr8:67973400-67977800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr8:67973400-67977800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr8:67973400-67978000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr8:67973400-67978200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr8:67973400-67978400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr8:67973600-67975600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:67973600-67975600	Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr8:67973600-67975600	Active TSS	HMEC	breast
23	chr8:67973600-67975800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:67973600-67975800	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr8:67973600-67975800	Active TSS	Brain Substantia Nigra	brain
26	chr8:67973600-67975800	Active TSS	Rectal Smooth Muscle	rectum
27	chr8:67973600-67975800	Active TSS	GM12878-XiMat	blood
28	chr8:67973600-67976000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr8:67973600-67976000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:67973600-67977800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr8:67973600-67978200	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr8:67973800-67975800	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr8:67973800-67975800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:67973800-67975800	Active TSS	Brain Anterior Caudate	brain
35	chr8:67973800-67976000	Active TSS	Stomach Smooth Muscle	stomach
36	chr8:67973800-67977600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr8:67974000-67976000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:67974000-67977800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:67974200-67976000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:67974400-67975600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:67974400-67977600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:67974800-67976400	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr8:67974800-67976400	Flanking Active TSS	Hela-S3	cervix
44	chr8:67974800-67976600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr8:67974800-67976600	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr8:67974800-67976600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr8:67974800-67977000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:67974800-67978200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:67975000-67975800	Weak transcription	Small Intestine	intestine
50	chr8:67975000-67976200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links