Variant report

Variant	rs8077042
Chromosome Location	chr17:45402279-45402280
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:106)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:106 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF3	chr17:45402171-45402416	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:45401001-45402489	GM12891	blood:	n/a	n/a
3	MAX	chr17:45400728-45402386	A549	lung:	n/a	n/a
4	PAX5	chr17:45401788-45402532	GM12878	blood:	n/a	chr17:45402110-45402129
5	CTCF	chr17:45402140-45402290	HMF	breast:	n/a	n/a
6	RUNX3	chr17:45400741-45402563	GM12878	blood:	n/a	n/a
7	POLR2A	chr17:45400858-45402457	GM12892	blood:	n/a	n/a
8	NFIC	chr17:45400672-45402561	GM12878	blood:	n/a	n/a
9	MXI1	chr17:45400566-45402311	GM12878	blood:	n/a	n/a
10	YY1	chr17:45400688-45402455	GM12878	blood:	n/a	n/a
11	SIX5	chr17:45400717-45402397	A549	lung:	n/a	n/a
12	TAF1	chr17:45400917-45402426	GM12878	blood:	n/a	n/a
13	TCF12	chr17:45402153-45402458	GM12878	blood:	n/a	n/a
14	ZNF384	chr17:45401997-45402561	GM12878	blood:	n/a	n/a
15	POLR2A	chr17:45400905-45402395	GM12878	blood:	n/a	n/a
16	POLR2A	chr17:45400691-45402532	GM12892	blood:	n/a	n/a
17	POLR2A	chr17:45400865-45402526	GM12878	blood:	n/a	n/a
18	POLR2A	chr17:45400764-45402929	GM12891	blood:	n/a	n/a
19	POLR2A	chr17:45400900-45402381	GM12878	blood:	n/a	n/a
20	STAT5A	chr17:45401242-45402438	GM12878	blood:	n/a	chr17:45402239-45402250 chr17:45401546-45401554
21	POLR2A	chr17:45400620-45402571	GM12878	blood:	n/a	n/a
22	CHD1	chr17:45400811-45402377	GM12878	blood:	n/a	n/a
23	SP1	chr17:45401857-45402535	GM12878	blood:	n/a	n/a
24	POLR2A	chr17:45400850-45402423	NB4	blood:	n/a	n/a
25	RELA	chr17:45400869-45402398	GM15510	blood:	n/a	n/a
26	PBX3	chr17:45402197-45402407	GM12878	blood:	n/a	n/a
27	POLR2A	chr17:45400836-45402412	GM19099	blood:	n/a	n/a
28	ATF2	chr17:45401740-45402536	GM12878	blood:	n/a	n/a
29	POLR2A	chr17:45400861-45402444	GM19193	blood:	n/a	n/a
30	RELA	chr17:45400989-45402382	GM18505	blood:	n/a	n/a
31	YY1	chr17:45400915-45402482	GM12892	blood:	n/a	n/a
32	SP1	chr17:45400697-45402576	A549	lung:	n/a	chr17:45401272-45401283 chr17:45401568-45401577
33	ATF2	chr17:45401787-45402387	GM12878	blood:	n/a	n/a
34	NFIC	chr17:45401972-45402644	GM12878	blood:	n/a	n/a
35	MTA3	chr17:45401262-45402522	GM12878	blood:	n/a	n/a
36	SPI1	chr17:45401437-45402308	HL-60	blood:	n/a	n/a
37	CEBPB	chr17:45401324-45402847	GM12878	blood:	n/a	n/a
38	POLR2A	chr17:45400693-45402472	GM18505	blood:	n/a	n/a
39	FOXM1	chr17:45401043-45402525	GM12878	blood:	n/a	n/a
40	POLR2A	chr17:45402016-45402341	ProgFib	skin:	n/a	n/a
41	POLR2A	chr17:45401404-45402371	Raji	blood:	n/a	n/a
42	TCF12	chr17:45402124-45402477	GM12878	blood:	n/a	n/a
43	POLR2A	chr17:45400814-45402432	GM12891	blood:	n/a	n/a
44	MAX	chr17:45400487-45402524	A549	lung:	n/a	n/a
45	TCF12	chr17:45400459-45402688	A549	lung:	n/a	n/a
46	EP300	chr17:45400981-45402404	GM12878	blood:	n/a	n/a
47	POLR2A	chr17:45400658-45402346	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr17:45400611-45402297	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr17:45400704-45402593	GM12892	blood:	n/a	n/a
50	POLR2A	chr17:45401746-45402353	U87	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45399600..45403116-chr17:45404916..45409576,7	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC040934.1-2	chr17:45401616-45402367	ENSG00000247683
2	lnc-AC040934.1-2	chr17:45402274-45403111	NONHSAT054297

No data

Variant related genes	Relation type
EFCAB13	TF binding region
ENSG00000263293	TF binding region
ENSG00000178852	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10514928	0.89[ASN][1000 genomes]
rs16941923	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1996521	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2136752	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3736439	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3744453	0.81[ASN][1000 genomes]
rs3956021	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4305137	0.86[ASN][1000 genomes]
rs55677939	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55693255	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55853213	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56195427	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57517411	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57711420	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58221919	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58568239	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58875262	0.81[ASN][1000 genomes]
rs58909422	0.89[ASN][1000 genomes]
rs59005133	0.86[ASN][1000 genomes]
rs59376508	0.86[ASN][1000 genomes]
rs59512479	0.86[ASN][1000 genomes]
rs59850765	0.86[ASN][1000 genomes]
rs60768148	0.82[ASN][1000 genomes]
rs60843765	0.86[ASN][1000 genomes]
rs61219318	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72825640	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72825642	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72825645	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72825646	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72825647	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72825648	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72825658	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72825663	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72825665	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72825679	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72825685	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72829614	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72829616	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72829624	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72829627	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72829631	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72829632	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72829633	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72829634	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72829641	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72829659	0.86[ASN][1000 genomes]
rs72829670	0.86[ASN][1000 genomes]
rs72829671	0.86[ASN][1000 genomes]
rs72829681	0.89[ASN][1000 genomes]
rs73324412	0.86[ASN][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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv962445	chr17:45397004-45428018	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45400000-45402400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr17:45400400-45402400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr17:45400400-45402400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:45400400-45402400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr17:45400400-45402400	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr17:45400400-45402400	Active TSS	NHLF	lung
7	chr17:45400400-45402600	Active TSS	A549	lung
8	chr17:45400600-45402400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr17:45400600-45402400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr17:45400600-45402400	Active TSS	Primary T cells from cord blood	blood
11	chr17:45400600-45402400	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr17:45400600-45402400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr17:45400600-45402400	Active TSS	Brain Anterior Caudate	brain
14	chr17:45400600-45402400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
15	chr17:45400600-45402400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr17:45400600-45402400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr17:45400600-45402400	Active TSS	Fetal Intestine Large	intestine
18	chr17:45400600-45402400	Active TSS	Fetal Intestine Small	intestine
19	chr17:45400600-45402400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr17:45400600-45402400	Active TSS	Fetal Muscle Trunk	muscle
21	chr17:45400600-45402400	Active TSS	Ovary	ovary
22	chr17:45400600-45402400	Active TSS	Stomach Smooth Muscle	stomach
23	chr17:45400600-45402400	Active TSS	HSMM	muscle
24	chr17:45400600-45402600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:45400600-45402800	Active TSS	Colonic Mucosa	Colon
26	chr17:45400600-45402800	Active TSS	Fetal Lung	lung
27	chr17:45400800-45402400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr17:45400800-45402400	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr17:45400800-45402400	Active TSS	NHDF-Ad	bronchial
30	chr17:45401000-45402400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr17:45401000-45402400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:45401000-45402400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr17:45401000-45402400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr17:45401000-45402400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr17:45401000-45402400	Active TSS	Muscle Satellite Cultured Cells	--
36	chr17:45401000-45402400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr17:45401000-45402400	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr17:45401000-45402400	Active TSS	Rectal Smooth Muscle	rectum
39	chr17:45401000-45402400	Active TSS	Hela-S3	cervix
40	chr17:45401000-45402600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr17:45401000-45402600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:45401200-45402600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr17:45401400-45402400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr17:45401400-45402400	ZNF genes & repeats	Fetal Brain Male	brain
45	chr17:45401400-45402400	Active TSS	Fetal Heart	heart
46	chr17:45401400-45402400	Flanking Active TSS	Placenta	Placenta
47	chr17:45401400-45402400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
48	chr17:45401400-45402400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr17:45401400-45402800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr17:45401400-45402800	Flanking Active TSS	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links