Variant report

Variant	rs73092431
Chromosome Location	chr5:43064882-43064883
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:484)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr5:43064627-43065357	GM12878	blood:	n/a	n/a
2	MAX	chr5:43064844-43065282	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:43064625-43065491	MCF-7	breast:	n/a	n/a
4	SMC3	chr5:43064843-43065679	Hela-S3	cervix:	n/a	n/a
5	TAF7	chr5:43064763-43065335	H1-hESC	embryonic stem cell:	n/a	n/a
6	SMARCC1	chr5:43064729-43065256	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr5:43064719-43065281	A549	lung:	n/a	chr5:43064975-43064986 chr5:43064973-43064984
8	TCF12	chr5:43064859-43065346	ECC-1	luminal epithelium:	n/a	n/a
9	BACH1	chr5:43064819-43065407	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:43063699-43068095	H1-hESC	embryonic stem cell:	n/a	n/a
11	SP1	chr5:43064792-43065338	H1-hESC	embryonic stem cell:	n/a	n/a
12	PAX5	chr5:43064448-43065342	GM12878	blood:	n/a	n/a
13	MYBL2	chr5:43064553-43065450	HepG2	liver:	n/a	n/a
14	RELA	chr5:43064725-43065370	GM19099	blood:	n/a	n/a
15	POLR2A	chr5:43064565-43065324	GM12878	blood:	n/a	n/a
16	TBL1XR1	chr5:43064750-43065399	K562	blood:	n/a	n/a
17	PAX5	chr5:43064569-43065323	GM12878	blood:	n/a	n/a
18	RAD21	chr5:43064871-43065633	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr5:43064875-43065283	A549	lung:	n/a	n/a
20	TAF1	chr5:43064760-43065325	GM12891	blood:	n/a	n/a
21	FOS	chr5:43064843-43065263	MCF10A-Er-Src	breast:	n/a	chr5:43065126-43065140
22	USF1	chr5:43064837-43065288	ECC-1	luminal epithelium:	n/a	n/a
23	ZNF263	chr5:43064732-43065344	HEK293-T-REx	kidney:	n/a	n/a
24	SIN3AK20	chr5:43064833-43065336	K562	blood:	n/a	n/a
25	POLR2A	chr5:43064630-43065330	GM12891	blood:	n/a	n/a
26	TEAD4	chr5:43064840-43065386	ECC-1	luminal epithelium:	n/a	n/a
27	ZMIZ1	chr5:43064706-43065418	K562	blood:	n/a	n/a
28	CTCF	chr5:43064553-43067516	SK-N-SH	brain:	n/a	chr5:43065140-43065149
29	POLR2A	chr5:43064657-43068004	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:43064721-43068001	GM12878	blood:	n/a	n/a
31	SP1	chr5:43064854-43065352	H1-hESC	embryonic stem cell:	n/a	n/a
32	FOSL2	chr5:43064663-43065670	A549	lung:	n/a	chr5:43065126-43065140
33	POLR2A	chr5:43064798-43065349	HCT-116	colon:	n/a	n/a
34	GABPA	chr5:43064834-43065315	Hela-S3	cervix:	n/a	n/a
35	ELF1	chr5:43064746-43065311	HepG2	liver:	n/a	chr5:43065035-43065048
36	POLR2A	chr5:43064617-43065434	K562	blood:	n/a	n/a
37	MAX	chr5:43064709-43065394	HepG2	liver:	n/a	n/a
38	SIN3AK20	chr5:43064664-43065373	A549	lung:	n/a	n/a
39	MAX	chr5:43064743-43067718	Hela-S3	cervix:	n/a	chr5:43066604-43066614
40	NFYB	chr5:43064834-43065168	Hela-S3	cervix:	n/a	n/a
41	TCF7L2	chr5:43064857-43065323	Hela-S3	cervix:	n/a	n/a
42	MYC	chr5:43064732-43065429	H1-hESC	embryonic stem cell:	n/a	n/a
43	E2F4	chr5:43064833-43065324	MCF10A-Er-Src	breast:	n/a	n/a
44	CEBPB	chr5:43064786-43065160	K562	blood:	n/a	chr5:43064975-43064986 chr5:43064973-43064984
45	MAX	chr5:43064658-43065389	K562	blood:	n/a	n/a
46	CEBPB	chr5:43064714-43065303	IMR90	lung:	n/a	chr5:43064975-43064986 chr5:43064973-43064984
47	SIN3AK20	chr5:43064641-43065465	HCT-116	colon:	n/a	n/a
48	CBX3	chr5:43064671-43065413	HCT-116	colon:	n/a	n/a
49	MYC	chr5:43064704-43067504	K562	blood:	n/a	chr5:43066604-43066614
50	YY1	chr5:43064478-43065361	GM12878	blood:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43062770..43067811-chr5:43482181..43486392,9	K562	blood:
2	chr5:43062052..43069089-chr5:43119705..43123366,12	MCF-7	breast:
3	chr5:43063931..43068016-chr5:43554200..43557480,3	K562	blood:
4	chr5:43037720..43044659-chr5:43062293..43069444,31	K562	blood:
5	chr5:43064654..43065234-chr5:43105414..43106006,2	K562	blood:
6	chr5:43017018..43021813-chr5:43064660..43069370,12	MCF-7	breast:
7	chr5:43063463..43067998-chr5:43119333..43125586,12	K562	blood:
8	chr5:43038662..43048059-chr5:43059399..43070773,40	MCF-7	breast:
9	chr5:42907363..42912501-chr5:43064737..43069149,8	MCF-7	breast:
10	chr5:43064382..43066342-chr5:43482298..43484520,2	MCF-7	breast:
11	chr5:43006860..43010287-chr5:43063692..43067440,8	K562	blood:
12	chr20:39656786..39657534-chr5:43064705..43065538,2	NB4	blood:
13	chr5:43064858..43068068-chr5:43482667..43486392,7	K562	blood:
14	chr5:43036901..43050217-chr5:43060442..43069391,53	MCF-7	breast:
15	chr5:43005189..43014948-chr5:43062554..43069130,17	MCF-7	breast:
16	chr20:32699690..32700555-chr5:43064843..43065502,2	Hela-S3	cervix:
17	chr5:43063723..43068505-chr5:43119531..43125230,17	K562	blood:
18	chr17:49021660..49022269-chr5:43064578..43065548,2	Hela-S3	cervix:
19	chr5:43006765..43010626-chr5:43063692..43068627,9	K562	blood:
20	chr5:43041320..43043003-chr5:43064736..43065650,5	MCF-7	breast:
21	chr5:43045206..43050609-chr5:43062079..43064977,5	K562	blood:
22	chr5:43015093..43022227-chr5:43063428..43069370,31	MCF-7	breast:
23	chr21:46221458..46222317-chr5:43064454..43065117,2	Hela-S3	cervix:
24	chr5:43041236..43041956-chr5:43064471..43065638,4	K562	blood:
25	chr5:41924171..41926713-chr5:43064683..43066902,2	K562	blood:
26	chr5:43061295..43063286-chr5:43064759..43067146,4	MCF-7	breast:
27	chr5:43039202..43040090-chr5:43064371..43065194,2	MCF-7	breast:
28	chr5:43064535..43068771-chr5:43312463..43314872,5	MCF-7	breast:
29	chr5:43006162..43011722-chr5:43063736..43068779,9	MCF-7	breast:
30	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:

No data

Variant related genes	Relation type
ZNF131	TF binding region
ENSG00000272144	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000251656	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000247011	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000125977	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000215068	Chromatin interaction
ENSG00000177721	Chromatin interaction
ENSG00000198900	Chromatin interaction
ENSG00000151876	Chromatin interaction
ENSG00000271788	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10941606	0.84[AFR][1000 genomes]
rs61473372	0.90[AFR][1000 genomes]
rs73090792	0.85[AFR][1000 genomes]
rs7736934	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
9	nsv870299	chr5:43053679-43107880	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	68 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	chr5:43045400-43066000	Weak transcription	Spleen	Spleen
2	chr5:43063600-43065000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:43063600-43068200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:43063800-43065000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr5:43063800-43065000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr5:43063800-43065000	Flanking Active TSS	K562	blood
7	chr5:43063800-43065000	Flanking Active TSS	Osteobl	bone
8	chr5:43063800-43068200	Active TSS	A549	lung
9	chr5:43064000-43065000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:43064000-43065000	Flanking Active TSS	Dnd41	blood
11	chr5:43064000-43065000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr5:43064000-43065200	Flanking Active TSS	Hela-S3	cervix
13	chr5:43064000-43065400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr5:43064000-43067800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr5:43064000-43068000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr5:43064000-43068400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:43064200-43065000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr5:43064200-43065000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:43064200-43065000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr5:43064200-43068200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr5:43064200-43068200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:43064200-43068400	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr5:43064200-43069000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:43064400-43065000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr5:43064400-43065000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr5:43064400-43065000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr5:43064400-43065000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr5:43064400-43065000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:43064400-43065000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr5:43064400-43065000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr5:43064400-43065000	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr5:43064400-43065000	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr5:43064400-43065000	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr5:43064400-43065000	Flanking Active TSS	Placenta	Placenta
35	chr5:43064400-43065000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr5:43064400-43065000	Flanking Active TSS	NH-A	brain
37	chr5:43064400-43065400	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr5:43064400-43066000	Active TSS	Brain Germinal Matrix	brain
39	chr5:43064400-43067200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:43064400-43067400	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr5:43064400-43067600	Active TSS	Brain Hippocampus Middle	brain
42	chr5:43064400-43067600	Active TSS	Brain Substantia Nigra	brain
43	chr5:43064400-43067600	Active TSS	Colonic Mucosa	Colon
44	chr5:43064400-43067800	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr5:43064400-43067800	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr5:43064400-43067800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:43064400-43067800	Active TSS	Brain Cingulate Gyrus	brain
48	chr5:43064400-43067800	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr5:43064400-43067800	Active TSS	Fetal Brain Female	brain
50	chr5:43064400-43067800	Active TSS	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links