Variant report

Variant	rs59573476
Chromosome Location	chr1:46218174-46218175
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr1:46218002-46218789	HepG2	liver:	n/a	n/a
2	MAX	chr1:46218055-46218343	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr1:46218116-46218334	Hela-S3	cervix:	n/a	n/a
4	JUND	chr1:46218090-46218557	HepG2	liver:	n/a	n/a
5	CEBPB	chr1:46217927-46218437	K562	blood:	n/a	n/a
6	EP300	chr1:46217877-46219726	K562	blood:	n/a	n/a
7	MAZ	chr1:46218113-46218370	HepG2	liver:	n/a	n/a
8	MAX	chr1:46218080-46218345	NB4	blood:	n/a	n/a
9	POLR2A	chr1:46218047-46218188	MCF10A-Er-Src	breast:	n/a	n/a
10	CEBPB	chr1:46218069-46218386	IMR90	lung:	n/a	n/a
11	TEAD4	chr1:46217882-46218793	HepG2	liver:	n/a	n/a
12	JUND	chr1:46218077-46219784	K562	blood:	n/a	n/a
13	FOS	chr1:46218066-46218395	MCF10A-Er-Src	breast:	n/a	n/a
14	ELK1	chr1:46218099-46218285	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr1:46218032-46218396	K562	blood:	n/a	n/a
16	MAFK	chr1:46217712-46218326	HepG2	liver:	n/a	n/a
17	EP300	chr1:46218095-46218645	HepG2	liver:	n/a	n/a
18	MAZ	chr1:46218105-46218293	Hela-S3	cervix:	n/a	n/a
19	SP1	chr1:46218035-46218790	HepG2	liver:	n/a	n/a
20	CEBPB	chr1:46217987-46218562	Hela-S3	cervix:	n/a	n/a
21	MYC	chr1:46217802-46218350	K562	blood:	n/a	n/a
22	HEY1	chr1:46218134-46218512	HepG2	liver:	n/a	n/a
23	CEBPB	chr1:46218028-46218660	HepG2	liver:	n/a	n/a
24	BRCA1	chr1:46218111-46218369	Hela-S3	cervix:	n/a	n/a
25	EP300	chr1:46218043-46218776	HepG2	liver:	n/a	n/a
26	CEBPB	chr1:46218160-46218285	A549	lung:	n/a	n/a
27	FOS	chr1:46218055-46218392	MCF10A-Er-Src	breast:	n/a	n/a
28	ZKSCAN1	chr1:46218160-46218422	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr1:46218105-46219573	K562	blood:	n/a	n/a
30	MAX	chr1:46218159-46218436	K562	blood:	n/a	n/a
31	MAZ	chr1:46218151-46218411	K562	blood:	n/a	n/a
32	RFX5	chr1:46218171-46218294	Hela-S3	cervix:	n/a	n/a
33	RCOR1	chr1:46218084-46218401	K562	blood:	n/a	n/a
34	GTF2F1	chr1:46218091-46218370	Hela-S3	cervix:	n/a	n/a
35	ARID3A	chr1:46217849-46218734	HepG2	liver:	n/a	n/a
36	YY1	chr1:46218017-46218374	ECC-1	luminal epithelium:	n/a	n/a
37	MYC	chr1:46218098-46218320	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr1:46218052-46218242	MCF10A-Er-Src	breast:	n/a	n/a
39	IRF1	chr1:46218146-46218374	K562	blood:	n/a	n/a
40	RAD21	chr1:46218162-46218418	Hela-S3	cervix:	n/a	n/a
41	FOXA2	chr1:46218023-46218558	HepG2	liver:	n/a	n/a
42	YY1	chr1:46218043-46218248	K562	blood:	n/a	n/a
43	EP300	chr1:46218011-46218382	Hela-S3	cervix:	n/a	n/a
44	MYC	chr1:46218087-46218333	NB4	blood:	n/a	n/a
45	HDAC2	chr1:46218099-46218705	HepG2	liver:	n/a	n/a
46	CEBPB	chr1:46218001-46218671	HepG2	liver:	n/a	n/a
47	FOS	chr1:46218079-46218310	MCF10A-Er-Src	breast:	n/a	n/a
48	SMC3	chr1:46218165-46218365	Hela-S3	cervix:	n/a	n/a
49	MYC	chr1:46218051-46218328	MCF10A-Er-Src	breast:	n/a	n/a
50	TEAD4	chr1:46217999-46219924	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46149977..46154848-chr1:46211592..46220262,26	K562	blood:
2	chr1:46162572..46164263-chr1:46216730..46218266,2	K562	blood:
3	chr1:46216677..46220436-chr1:46232703..46236378,4	K562	blood:
4	chr1:46213556..46220443-chr1:46266629..46271737,8	K562	blood:
5	chr1:46150194..46156123-chr1:46211510..46222859,25	K562	blood:
6	chr1:46215876..46219394-chr1:46266629..46270801,6	K562	blood:
7	chr1:46217664..46220133-chr1:46344829..46347460,2	K562	blood:
8	chr1:46216570..46222815-chr1:46224414..46229889,7	K562	blood:
9	chr1:46211470..46213214-chr1:46217609..46219595,2	K562	blood:
10	chr1:46211582..46213293-chr1:46216678..46219405,2	MCF-7	breast:

No data

Variant related genes	Relation type
IPP	TF binding region
ENSG00000230896	Chromatin interaction
ENSG00000197429	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000159596	Chromatin interaction
ENSG00000086015	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10157278	0.82[AFR][1000 genomes]
rs13375352	0.91[AFR][1000 genomes]
rs13375539	0.82[AFR][1000 genomes]
rs59315920	0.82[AFR][1000 genomes]
rs59867512	0.82[AFR][1000 genomes]
rs59879604	0.82[AFR][1000 genomes]
rs60497619	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
2	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
4	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
5	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv1014128	chr1:46097670-46394540	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv1010054	chr1:46144479-46320493	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
8	nsv1006861	chr1:46144479-46417621	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
9	nsv1003049	chr1:46144479-46476149	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
10	nsv870511	chr1:46148138-46245423	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv871233	chr1:46153203-46311275	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv1008219	chr1:46160098-46493958	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
13	nsv534943	chr1:46160098-46493958	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
14	nsv1000498	chr1:46171836-46438252	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
15	nsv870791	chr1:46182916-46398415	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv871023	chr1:46184300-46301182	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
17	nsv998925	chr1:46184925-46353041	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	37 gene(s)	inside rSNPs	diseases
18	nsv1003986	chr1:46184925-46417621	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
19	nsv1007501	chr1:46184925-46439533	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
20	nsv534944	chr1:46184925-46439533	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
21	nsv871763	chr1:46186576-46236098	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
22	nsv1006891	chr1:46189258-46408032	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
23	nsv1009355	chr1:46189258-46463012	Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
24	nsv870626	chr1:46196813-46314170	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
25	nsv871312	chr1:46196813-46353332	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
26	esv2830426	chr1:46202361-46347367	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
27	nsv546158	chr1:46216575-46495434	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
28	nsv870911	chr1:46216575-46498375	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46217000-46218200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:46217000-46218200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:46217000-46218200	Weak transcription	Psoas Muscle	Psoas
4	chr1:46217000-46218200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr1:46217000-46218200	Enhancers	GM12878-XiMat	blood
6	chr1:46217000-46218200	Weak transcription	HSMMtube	muscle
7	chr1:46217000-46218400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr1:46217000-46218400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:46217000-46218400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr1:46217000-46218600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:46217000-46218600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:46217000-46218800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:46217000-46218800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:46217000-46218800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:46217000-46219000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:46217200-46219200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr1:46217200-46221000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:46217400-46218200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:46217400-46218400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:46217600-46218400	Enhancers	Osteobl	bone
21	chr1:46217600-46218600	Flanking Active TSS	HepG2	liver
22	chr1:46217800-46218200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:46217800-46218600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:46218000-46218200	Enhancers	NHEK	skin
25	chr1:46218000-46218600	Flanking Active TSS	Hela-S3	cervix
26	chr1:46218000-46219600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:46218000-46219800	Flanking Active TSS	K562	blood

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