Variant report

Variant	rs508280
Chromosome Location	chr15:40226291-40226292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:314)
CpG islands
(count:305)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:40225944-40226737	Hela-S3	cervix:	n/a	chr15:40226547-40226555
2	FOXP2	chr15:40226078-40226621	PFSK-1	brain:	n/a	n/a
3	HCFC1	chr15:40226012-40226608	K562	blood:	n/a	n/a
4	MYC	chr15:40225992-40226365	MCF10A-Er-Src	breast:	n/a	n/a
5	RUNX3	chr15:40225890-40226598	GM12878	blood:	n/a	n/a
6	MAX	chr15:40226001-40226748	HepG2	liver:	n/a	chr15:40226547-40226555
7	POLR2A	chr15:40225895-40226655	GM12892	blood:	n/a	n/a
8	HA-E2F1	chr15:40225580-40226660	MCF-7	breast:	n/a	chr15:40225999-40226006 chr15:40225999-40226006 chr15:40225999-40226006
9	MYBL2	chr15:40225958-40226583	HepG2	liver:	n/a	n/a
10	POLR2A	chr15:40225952-40226670	HUVEC	blood vessel:	n/a	n/a
11	ZMIZ1	chr15:40226000-40226348	K562	blood:	n/a	n/a
12	POLR2A	chr15:40225871-40226643	A549	lung:	n/a	n/a
13	GTF2F1	chr15:40225947-40226308	Hela-S3	cervix:	n/a	n/a
14	PML	chr15:40225993-40226567	MCF-7	breast:	n/a	n/a
15	POLR2A	chr15:40225783-40226816	HepG2	liver:	n/a	n/a
16	CHD2	chr15:40225775-40226705	Hela-S3	cervix:	n/a	n/a
17	MXI1	chr15:40226108-40226330	K562	blood:	n/a	n/a
18	SP1	chr15:40225828-40226367	A549	lung:	n/a	chr15:40226173-40226187
19	POLR2A	chr15:40225930-40226579	HepG2	liver:	n/a	n/a
20	MYC	chr15:40226194-40226527	MCF-7	breast:	n/a	n/a
21	TBL1XR1	chr15:40226095-40226385	K562	blood:	n/a	n/a
22	TBL1XR1	chr15:40225974-40226295	K562	blood:	n/a	n/a
23	TAF1	chr15:40225751-40226476	Hela-S3	cervix:	n/a	n/a
24	GABPA	chr15:40225770-40226542	K562	blood:	n/a	n/a
25	POLR2A	chr15:40225837-40226607	K562	blood:	n/a	n/a
26	YY1	chr15:40226177-40226657	GM12891	blood:	n/a	n/a
27	ELK1	chr15:40225979-40226496	Hela-S3	cervix:	n/a	n/a
28	RCOR1	chr15:40225454-40227400	IMR90	lung:	n/a	n/a
29	TAF1	chr15:40226051-40226429	K562	blood:	n/a	n/a
30	POLR2A	chr15:40225664-40226718	MCF-7	breast:	n/a	n/a
31	ZNF263	chr15:40226009-40227152	HEK293-T-REx	kidney:	n/a	n/a
32	FOS	chr15:40225948-40226370	MCF10A-Er-Src	breast:	n/a	chr15:40226101-40226112
33	UBTF	chr15:40225896-40226947	K562	blood:	n/a	n/a
34	GTF2F1	chr15:40226044-40226461	K562	blood:	n/a	n/a
35	POLR2A	chr15:40225537-40226628	Hela-S3	cervix:	n/a	n/a
36	JUND	chr15:40225997-40226566	A549	lung:	n/a	n/a
37	IRF1	chr15:40226027-40226480	K562	blood:	n/a	n/a
38	POLR2A	chr15:40226023-40226631	HepG2	liver:	n/a	n/a
39	MAX	chr15:40225978-40226765	A549	lung:	n/a	chr15:40226547-40226555
40	SP4	chr15:40225889-40226332	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr15:40225773-40226691	MCF-7	breast:	n/a	n/a
42	POU2F2	chr15:40226001-40226582	GM12891	blood:	n/a	n/a
43	HEY1	chr15:40226029-40226603	HepG2	liver:	n/a	n/a
44	TAF1	chr15:40226038-40226596	HepG2	liver:	n/a	n/a
45	POLR2A	chr15:40226057-40226603	GM12878	blood:	n/a	n/a
46	POLR2A	chr15:40226017-40226573	HepG2	liver:	n/a	n/a
47	POLR2A	chr15:40226065-40226501	A549	lung:	n/a	n/a
48	RFX5	chr15:40225955-40226575	Hela-S3	cervix:	n/a	n/a
49	MYC	chr15:40225965-40226758	MCF10A-Er-Src	breast:	n/a	chr15:40226547-40226555
50	POLR2A	chr15:40225995-40226633	A549	lung:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40226259-40226309	IMR90	lung:	fetal
2	chr15:40226259-40226309	AG10803	skin:	n/a
3	chr15:40226279-40226329	GM19239	blood:	n/a
4	chr15:40226259-40226309	GM12878	blood:	n/a
5	chr15:40226267-40226317	NHDF-neo	bronchial:	n/a
6	chr15:40226257-40226307	GM06990	blood:	n/a
7	chr15:40226267-40226317	HepG2	liver:	n/a
8	chr15:40226259-40226309	HRCEpiC	kidney:	n/a
9	chr15:40226273-40226323	RPTEC	kidney:	n/a
10	chr15:40226279-40226329	GM12891	blood:	n/a
11	chr15:40226273-40226323	NB4	blood:	n/a
12	chr15:40226279-40226329	AG10803	skin:	n/a
13	chr15:40226257-40226307	HUVEC	blood vessel:	n/a
14	chr15:40226257-40226307	AG04449	skin:	fetal
15	chr15:40226279-40226329	SAEC	small airway:	n/a
16	chr15:40226267-40226317	HEK293	kidney:	embryo
17	chr15:40226259-40226309	BJ	skin:	n/a
18	chr15:40226279-40226329	GM12892	blood:	n/a
19	chr15:40226267-40226317	HL-60	blood:	n/a
20	chr15:40226267-40226317	HMEC	breast:	n/a
21	chr15:40226273-40226323	HCF	heart:	n/a
22	chr15:40226273-40226323	HUVEC	blood vessel:	n/a
23	chr15:40226273-40226323	U87	brain:	n/a
24	chr15:40226267-40226317	CMK	blood:	n/a
25	chr15:40226273-40226323	ovcar-3	ovarian:	n/a
26	chr15:40226257-40226307	HAEpiC	amniotic membrane:	n/a
27	chr15:40226267-40226317	HPAEpiC	pulmonary alveolar:	n/a
28	chr15:40226279-40226329	SK-N-SH	brain:	n/a
29	chr15:40226257-40226307	PrEC	prostate:	n/a
30	chr15:40226257-40226307	GM12878	blood:	n/a
31	chr15:40226273-40226323	A549	lung:	n/a
32	chr15:40226257-40226307	U87	brain:	n/a
33	chr15:40226279-40226329	T-47D	breast:	n/a
34	chr15:40226279-40226329	AG04449	skin:	fetal
35	chr15:40226267-40226317	MCF10A-Er-Src	breast:	n/a
36	chr15:40226267-40226317	HCM	heart:	n/a
37	chr15:40226279-40226329	PrEC	prostate:	n/a
38	chr15:40226257-40226307	HCM	heart:	n/a
39	chr15:40226279-40226329	HCT-116	colon:	n/a
40	chr15:40226267-40226317	AG09309	skin:	n/a
41	chr15:40226279-40226329	BJ	skin:	n/a
42	chr15:40226267-40226317	AG04449	skin:	fetal
43	chr15:40226273-40226323	HCT-116	colon:	n/a
44	chr15:40226259-40226309	AoSMC	blood vessel:	n/a
45	chr15:40226267-40226317	Hepatocyte	liver:	n/a
46	chr15:40226267-40226317	ProgFib	skin:	n/a
47	chr15:40226279-40226329	NT2-D1	testis:	n/a
48	chr15:40226273-40226323	HepG2	liver:	n/a
49	chr15:40226273-40226323	PrEC	prostate:	n/a
50	chr15:40226267-40226317	HNPCEpiC	eye:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40226223..40227908-chr15:40241958..40244363,2	MCF-7	breast:
2	chr1:145382446..145383040-chr15:40225949..40226544,2	Hela-S3	cervix:
3	chr15:40211846..40214390-chr15:40224576..40226655,2	K562	blood:
4	chr15:40214834..40219458-chr15:40222098..40228403,10	K562	blood:
5	chr15:40225807..40226528-chr9:20621463..20622456,2	Hela-S3	cervix:
6	chr15:40214696..40216721-chr15:40223722..40226672,2	MCF-7	breast:
7	chr15:40226287..40226791-chr5:179921184..179922100,2	Hela-S3	cervix:
8	chr15:40211366..40214080-chr15:40223428..40228644,6	MCF-7	breast:
9	chr15:40225596..40226312-chr18:13725946..13726591,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
EIF2AK4	TF binding region
EIF2AK4	CpG island
ENSG00000246863	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000177150	Chromatin interaction
ENSG00000259389	Chromatin interaction
ENSG00000238564	Chromatin interaction
ENSG00000200305	Chromatin interaction
ENSG00000166073	Chromatin interaction
ENSG00000113300	Chromatin interaction
ENSG00000171843	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12050584	1.00[AMR][1000 genomes]
rs2412455	1.00[AMR][1000 genomes]
rs2412461	1.00[AMR][1000 genomes]
rs2640644	1.00[AMR][1000 genomes]
rs2898983	1.00[AMR][1000 genomes]
rs2917838	1.00[AMR][1000 genomes]
rs2934195	1.00[AMR][1000 genomes]
rs472530	1.00[AMR][1000 genomes]
rs503775	1.00[AMR][1000 genomes]
rs509966	1.00[AMR][1000 genomes]
rs514394	1.00[AMR][1000 genomes]
rs535400	1.00[AMR][1000 genomes]
rs544070	1.00[AMR][1000 genomes]
rs571256	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57158008	1.00[AMR][1000 genomes]
rs578429	1.00[AMR][1000 genomes]
rs581167	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7165452	1.00[AMR][1000 genomes]
rs7173708	1.00[AMR][1000 genomes]
rs7174465	1.00[AMR][1000 genomes]
rs73395254	1.00[AMR][1000 genomes]
rs73395265	1.00[AMR][1000 genomes]
rs74008689	1.00[AMR][1000 genomes]
rs8042413	1.00[AMR][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv832983	chr15:40098766-40248839	Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	chr15:40224800-40226800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:40224800-40227800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:40225200-40227800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr15:40225400-40226400	Active TSS	Colonic Mucosa	Colon
5	chr15:40225400-40226600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:40225400-40226600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:40225400-40226600	Active TSS	Adipose Nuclei	Adipose
8	chr15:40225400-40226600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr15:40225400-40226800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:40225400-40226800	Active TSS	Brain Hippocampus Middle	brain
11	chr15:40225400-40226800	Active TSS	K562	blood
12	chr15:40225400-40227000	Active TSS	Brain Substantia Nigra	brain
13	chr15:40225400-40227000	Active TSS	HSMMtube	muscle
14	chr15:40225400-40227400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:40225400-40228000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:40225400-40228200	Active TSS	A549	lung
17	chr15:40225600-40226600	Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr15:40225600-40226600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr15:40225600-40226600	Active TSS	HMEC	breast
20	chr15:40225600-40226600	Active TSS	NH-A	brain
21	chr15:40225600-40226800	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr15:40225600-40226800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:40225600-40226800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr15:40225600-40226800	Active TSS	Muscle Satellite Cultured Cells	--
25	chr15:40225600-40226800	Active TSS	Brain Angular Gyrus	brain
26	chr15:40225600-40226800	Active TSS	Duodenum Mucosa	Duodenum
27	chr15:40225600-40226800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr15:40225600-40226800	Active TSS	Thymus	Thymus
29	chr15:40225600-40226800	Active TSS	Hela-S3	cervix
30	chr15:40225600-40226800	Active TSS	Osteobl	bone
31	chr15:40225600-40227000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr15:40225600-40227000	Active TSS	Brain Anterior Caudate	brain
33	chr15:40225600-40227000	Active TSS	Stomach Smooth Muscle	stomach
34	chr15:40225600-40227000	Active TSS	NHEK	skin
35	chr15:40225600-40227200	Active TSS	Placenta	Placenta
36	chr15:40225600-40227400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:40225600-40227400	Active TSS	Ovary	ovary
38	chr15:40225600-40227800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:40225600-40227800	Active TSS	HSMM	muscle
40	chr15:40225800-40226400	Active TSS	Primary hematopoietic stem cells	blood
41	chr15:40225800-40226400	Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr15:40225800-40226400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr15:40225800-40226600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:40225800-40226600	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr15:40225800-40226600	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr15:40225800-40226600	Active TSS	Primary T cells from cord blood	blood
47	chr15:40225800-40226600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr15:40225800-40226600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr15:40225800-40226600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr15:40225800-40226600	Active TSS	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links