Variant report

Variant	rs61051764
Chromosome Location	chr5:80597033-80597034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:166)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:166 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr5:80596906-80597780	HepG2	liver:	n/a	n/a
2	ATF3	chr5:80596970-80597605	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:80596604-80598133	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr5:80596980-80597635	A549	lung:	n/a	chr5:80597382-80597391
5	MAZ	chr5:80596993-80597955	K562	blood:	n/a	n/a
6	SP1	chr5:80596990-80597833	HCT-116	colon:	n/a	n/a
7	CHD2	chr5:80597033-80597717	K562	blood:	n/a	n/a
8	CBX3	chr5:80597025-80597890	K562	blood:	n/a	n/a
9	POU2F2	chr5:80597011-80597776	GM12878	blood:	n/a	n/a
10	MXI1	chr5:80596442-80598163	SK-N-SH	brain:	n/a	chr5:80597972-80597987
11	CREB1	chr5:80596990-80597892	K562	blood:	n/a	n/a
12	MBD4	chr5:80597019-80597562	HepG2	liver:	n/a	n/a
13	MYC	chr5:80597021-80597540	H1-hESC	embryonic stem cell:	n/a	n/a
14	EGR1	chr5:80596975-80597838	HCT-116	colon:	n/a	chr5:80597636-80597646 chr5:80597382-80597391
15	POLR2A	chr5:80596940-80597831	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr5:80596905-80597897	K562	blood:	n/a	n/a
17	BRCA1	chr5:80597007-80597629	H1-hESC	embryonic stem cell:	n/a	n/a
18	GABPA	chr5:80596916-80598063	SK-N-SH	brain:	n/a	n/a
19	SIN3AK20	chr5:80596893-80597897	MCF-7	breast:	n/a	n/a
20	TAF1	chr5:80596907-80597868	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr5:80596998-80597987	K562	blood:	n/a	n/a
22	GABPA	chr5:80596945-80597911	MCF-7	breast:	n/a	n/a
23	TAF7	chr5:80597006-80597749	H1-hESC	embryonic stem cell:	n/a	n/a
24	GABPA	chr5:80596897-80597944	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr5:80596995-80597900	SK-N-SH	brain:	n/a	n/a
26	REST	chr5:80596986-80597758	A549	lung:	n/a	n/a
27	RFX5	chr5:80596980-80597645	Hela-S3	cervix:	n/a	n/a
28	YY1	chr5:80596889-80597752	K562	blood:	n/a	n/a
29	POLR2A	chr5:80597031-80597905	HepG2	liver:	n/a	n/a
30	SMC3	chr5:80596808-80597689	Hela-S3	cervix:	n/a	n/a
31	TEAD4	chr5:80596651-80597958	K562	blood:	n/a	n/a
32	TAF1	chr5:80596933-80597990	K562	blood:	n/a	n/a
33	CEBPB	chr5:80596916-80597672	GM12878	blood:	n/a	n/a
34	POLR2A	chr5:80597032-80597841	GM12892	blood:	n/a	n/a
35	POLR2A	chr5:80597032-80597931	HUVEC	blood vessel:	n/a	n/a
36	MYC	chr5:80596795-80597854	K562	blood:	n/a	n/a
37	HA-E2F1	chr5:80596937-80597914	MCF-7	breast:	n/a	n/a
38	NR2F2	chr5:80596990-80597678	K562	blood:	n/a	n/a
39	POLR2A	chr5:80597006-80597882	K562	blood:	n/a	n/a
40	PML	chr5:80596889-80597992	GM12878	blood:	n/a	n/a
41	POLR2A	chr5:80596843-80597871	MCF-7	breast:	n/a	n/a
42	MAX	chr5:80596960-80597809	K562	blood:	n/a	n/a
43	SP1	chr5:80597030-80597689	A549	lung:	n/a	n/a
44	CREB1	chr5:80596960-80597892	GM12878	blood:	n/a	n/a
45	POLR2A	chr5:80596942-80597858	HUVEC	blood vessel:	n/a	n/a
46	TAF1	chr5:80597004-80597762	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr5:80596974-80597805	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr5:80596997-80597770	Hela-S3	cervix:	n/a	n/a
49	TEAD4	chr5:80596910-80597922	K562	blood:	n/a	n/a
50	POLR2A	chr5:80597028-80597845	A549	lung:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:87793815..87794355-chr5:80596988..80597951,2	HCT-116	colon:
2	chr5:80596931..80597570-chr5:148205888..148206610,2	NB4	blood:

No data

Variant related genes	Relation type
ZCCHC9	TF binding region
ENSG00000143013	Chromatin interaction
ENSG00000169252	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs28482890	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28690592	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59230067	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59628507	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60394857	1.00[EUR][1000 genomes]
rs61001312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73768049	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73768052	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73768054	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73768056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73768057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73768060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73768067	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7732077	1.00[EUR][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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598750	chr5:80503528-80599578	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80593800-80599800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:80595200-80598200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr5:80595200-80598200	Active TSS	Right Atrium	heart
4	chr5:80595200-80598600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr5:80595400-80598200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr5:80595400-80598200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr5:80595400-80598600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:80595400-80598800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr5:80595800-80597600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr5:80595800-80598400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:80595800-80598400	Active TSS	Fetal Kidney	kidney
12	chr5:80595800-80598400	Active TSS	K562	blood
13	chr5:80596000-80597200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:80596000-80598200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:80596000-80598400	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr5:80596000-80598400	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr5:80596200-80597200	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr5:80596200-80597200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr5:80596200-80597600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:80596200-80598000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:80596200-80598200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr5:80596200-80598200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr5:80596200-80598800	Active TSS	NHLF	lung
24	chr5:80596400-80597200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr5:80596400-80597200	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr5:80596400-80597200	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr5:80596400-80598000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:80596400-80598000	Active TSS	Fetal Muscle Trunk	muscle
29	chr5:80596400-80598000	Active TSS	Placenta	Placenta
30	chr5:80596400-80598000	Active TSS	Lung	lung
31	chr5:80596400-80598000	Active TSS	Ovary	ovary
32	chr5:80596400-80598400	Active TSS	A549	lung
33	chr5:80596400-80598400	Active TSS	NHDF-Ad	bronchial
34	chr5:80596400-80598600	Active TSS	Aorta	Aorta
35	chr5:80596400-80598800	Active TSS	GM12878-XiMat	blood
36	chr5:80596600-80597200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:80596600-80597200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr5:80596600-80597200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:80596600-80597200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:80596600-80598000	Active TSS	Esophagus	oesophagus
41	chr5:80596600-80598000	Active TSS	Fetal Brain Female	brain
42	chr5:80596600-80598200	Active TSS	H1 Cell Line	embryonic stem cell
43	chr5:80596600-80598200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:80596600-80598200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:80596600-80598200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:80596600-80598200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:80596600-80598200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:80596600-80598200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:80596600-80598200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:80596600-80598200	Active TSS	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links