Variant report

Variant	rs12451141
Chromosome Location	chr17:33775234-33775235
allele	C/G
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	CREB1	chr17:33775077-33776224	GM12878	blood:	n/a	n/a
2	EP300	chr17:33775145-33776103	GM12878	blood:	n/a	chr17:33775590-33775606 chr17:33775589-33775605
3	MEF2A	chr17:33775071-33775675	GM12878	blood:	n/a	n/a
4	CEBPB	chr17:33774978-33775609	GM12878	blood:	n/a	n/a
5	POLR2A	chr17:33775083-33776257	GM12878	blood:	n/a	n/a
6	POLR2A	chr17:33775085-33776260	GM12892	blood:	n/a	n/a
7	MXI1	chr17:33775142-33776195	GM12878	blood:	n/a	n/a
8	TBP	chr17:33775190-33776016	H1-hESC	embryonic stem cell:	n/a	n/a
9	TCF3	chr17:33775123-33775772	GM12878	blood:	n/a	n/a
10	POLR2A	chr17:33775205-33776105	GM10847	blood:	n/a	n/a
11	POLR2A	chr17:33775121-33776180	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCLAF1	chr17:33775059-33776231	GM12878	blood:	n/a	chr17:33775602-33775615 chr17:33775607-33775616 chr17:33775584-33775597
13	POLR2A	chr17:33775119-33776935	GM19099	blood:	n/a	n/a
14	YY1	chr17:33775228-33775470	K562	blood:	n/a	n/a
15	GABPA	chr17:33775081-33775710	HL-60	blood:	n/a	chr17:33775606-33775615
16	CHD1	chr17:33775116-33775519	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr17:33775053-33776379	GM12892	blood:	n/a	n/a
18	PAX5	chr17:33775066-33775943	GM12878	blood:	n/a	n/a
19	RUNX3	chr17:33774958-33776080	GM12878	blood:	n/a	chr17:33775345-33775362
20	STAT3	chr17:33775178-33775442	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F6	chr17:33775169-33776268	A549	lung:	n/a	chr17:33775477-33775486 chr17:33775606-33775615
22	MTA3	chr17:33775030-33776889	GM12878	blood:	n/a	n/a
23	POLR2A	chr17:33775139-33776835	GM15510	blood:	n/a	n/a
24	TBL1XR1	chr17:33775126-33775945	GM12878	blood:	n/a	n/a
25	TAF7	chr17:33775233-33775859	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr17:33775090-33775757	GM12891	blood:	n/a	n/a
27	ELF1	chr17:33774850-33776173	GM12878	blood:	n/a	n/a
28	SIN3AK20	chr17:33775157-33776189	PANC-1	pancreas:	n/a	n/a
29	SPI1	chr17:33775175-33775483	GM12878	blood:	n/a	n/a
30	ETS1	chr17:33775114-33775565	GM12878	blood:	n/a	n/a
31	MAZ	chr17:33775150-33775577	K562	blood:	n/a	n/a
32	E2F6	chr17:33775074-33777003	H1-hESC	embryonic stem cell:	n/a	chr17:33775477-33775486 chr17:33775606-33775615
33	STAT5A	chr17:33775070-33776141	GM12878	blood:	n/a	n/a
34	MAX	chr17:33775217-33776307	A549	lung:	n/a	n/a
35	POLR2A	chr17:33775134-33776940	GM18526	blood:	n/a	n/a
36	POLR2A	chr17:33775096-33776338	GM12878	blood:	n/a	n/a
37	MAX	chr17:33775198-33775457	K562	blood:	n/a	n/a
38	POU2F2	chr17:33775091-33777021	GM12878	blood:	n/a	chr17:33775474-33775486 chr17:33775599-33775611 chr17:33775602-33775614 chr17:33776338-33776350 chr17:33775578-33775590 chr17:33775477-33775489 chr17:33776344-33776356
39	TCF12	chr17:33775212-33775672	GM12878	blood:	n/a	n/a
40	EGR1	chr17:33775139-33775524	H1-hESC	embryonic stem cell:	n/a	chr17:33775476-33775486 chr17:33775478-33775491 chr17:33775342-33775352 chr17:33775341-33775354 chr17:33775341-33775354 chr17:33775340-33775354 chr17:33775341-33775354 chr17:33775338-33775352 chr17:33775342-33775351 chr17:33775341-33775351 chr17:33775341-33775354
41	POLR2A	chr17:33775086-33776229	GM12878	blood:	n/a	n/a
42	SMC3	chr17:33775169-33775766	GM12878	blood:	n/a	n/a
43	POLR2A	chr17:33775164-33776025	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr17:33775233-33776235	H1-hESC	embryonic stem cell:	n/a	n/a
45	IRF1	chr17:33775224-33775476	K562	blood:	n/a	chr17:33775378-33775388
46	BHLHE40	chr17:33775151-33776052	GM12878	blood:	n/a	chr17:33775589-33775605
47	POLR2A	chr17:33774687-33776084	GM12891	blood:	n/a	n/a
48	GABPA	chr17:33774985-33775854	HL-60	blood:	n/a	chr17:33775606-33775615
49	TAF1	chr17:33775141-33775443	GM12891	blood:	n/a	n/a
50	ATF2	chr17:33775105-33775651	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33769997..33772468-chr17:33774210..33776177,2	K562	blood:

Variant related genes	Relation type
SLFN13	TF binding region
ENSG00000154760	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12450604	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12451679	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs12453650	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12601267	1.00[AFR][1000 genomes]
rs16970988	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16971025	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs16971028	1.00[AFR][1000 genomes]
rs3785758	1.00[AFR][1000 genomes]
rs62078141	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62078142	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62078145	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62078151	0.87[EUR][1000 genomes]
rs62078154	0.87[EUR][1000 genomes]
rs72483216	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8065626	0.82[CEU][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv574741	chr17:33552275-33827134	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv1056116	chr17:33691457-33815452	Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3432530	chr17:33738621-33802241	Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33773200-33775400	Weak transcription	Dnd41	blood
2	chr17:33774200-33777200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:33774400-33777000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:33774600-33775400	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr17:33774600-33775600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr17:33774600-33775600	Active TSS	Right Atrium	heart
7	chr17:33774600-33775800	Bivalent/Poised TSS	Fetal Kidney	kidney
8	chr17:33774600-33776000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr17:33774600-33776000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr17:33774600-33776000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr17:33774600-33776000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr17:33774600-33776000	Active TSS	HMEC	breast
13	chr17:33774600-33776800	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr17:33774800-33775400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:33774800-33775400	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr17:33774800-33775400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
17	chr17:33774800-33775400	Active TSS	Brain Substantia Nigra	brain
18	chr17:33774800-33775400	Weak transcription	Fetal Heart	heart
19	chr17:33774800-33775600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr17:33774800-33775600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:33774800-33775600	Active TSS	Colonic Mucosa	Colon
22	chr17:33774800-33775600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr17:33774800-33775600	Active TSS	Rectal Smooth Muscle	rectum
24	chr17:33774800-33775600	Active TSS	GM12878-XiMat	blood
25	chr17:33774800-33775800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr17:33774800-33775800	Active TSS	K562	blood
27	chr17:33774800-33776000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:33774800-33776000	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr17:33774800-33776000	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr17:33774800-33776000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr17:33774800-33776000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr17:33774800-33776400	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr17:33774800-33776400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr17:33774800-33776400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr17:33774800-33776600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:33774800-33776600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr17:33774800-33776600	Active TSS	Duodenum Mucosa	Duodenum
38	chr17:33774800-33776800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr17:33774800-33776800	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr17:33774800-33776800	Active TSS	Colon Smooth Muscle	Colon
41	chr17:33774800-33776800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr17:33775000-33775400	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr17:33775000-33775400	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr17:33775000-33775400	Bivalent/Poised TSS	Left Ventricle	heart
45	chr17:33775000-33775400	Bivalent/Poised TSS	Osteobl	bone
46	chr17:33775000-33775600	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr17:33775000-33775600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr17:33775000-33775600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr17:33775000-33775600	Active TSS	Primary B cells from cord blood	blood
50	chr17:33775000-33775600	Active TSS	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links