Variant report

Variant	rs1356793
Chromosome Location	chr3:20381886-20381887
allele	A/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	CTCF	chr3:20381807-20382190	A549	lung:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
2	CTCF	chr3:20381860-20382087	A549	lung:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
3	RAD21	chr3:20381734-20382312	ECC-1	luminal epithelium:	n/a	chr3:20381989-20382008 chr3:20381992-20382005 chr3:20381990-20382004
4	RAD21	chr3:20381721-20382303	HepG2	liver:	n/a	chr3:20381989-20382008 chr3:20381992-20382005 chr3:20381990-20382004
5	CTCF	chr3:20381846-20382153	Medullo	brain:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
6	CTCF	chr3:20381847-20382157	K562	blood:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
7	SMC3	chr3:20381753-20382221	HepG2	liver:	n/a	chr3:20381990-20382004
8	RFX5	chr3:20381883-20382146	Hela-S3	cervix:	n/a	n/a
9	JUND	chr3:20381838-20382256	K562	blood:	n/a	n/a
10	IRF1	chr3:20381817-20382236	K562	blood:	n/a	chr3:20382088-20382102 chr3:20382082-20382099 chr3:20381825-20381839
11	ZNF143	chr3:20381880-20382133	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr3:20381719-20382297	MCF-7	breast:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
13	ZMIZ1	chr3:20381846-20382152	K562	blood:	n/a	n/a
14	RAD21	chr3:20381804-20382216	K562	blood:	n/a	chr3:20381989-20382008 chr3:20381992-20382005 chr3:20381990-20382004
15	RAD21	chr3:20381747-20382262	A549	lung:	n/a	chr3:20381989-20382008 chr3:20381992-20382005 chr3:20381990-20382004
16	CTCF	chr3:20381860-20382119	HepG2	liver:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
17	MAX	chr3:20381885-20382212	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr3:20381875-20382104	GM12878	blood:	n/a	chr3:20381989-20382008 chr3:20381992-20382005 chr3:20381990-20382004
19	CTCF	chr3:20381880-20382030	GM12868	blood:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
20	CTCF	chr3:20381866-20382153	GM12892	blood:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
21	RAD21	chr3:20381780-20382218	HCT-116	colon:	n/a	chr3:20381989-20382008 chr3:20381992-20382005 chr3:20381990-20382004
22	CTCF	chr3:20381802-20382191	SK-N-SH_RA	brain:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
23	WRNIP1	chr3:20381836-20382178	GM12878	blood:	n/a	n/a
24	CEBPB	chr3:20381803-20382270	K562	blood:	n/a	n/a
25	CTCF	chr3:20381885-20382138	GM12891	blood:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
26	MAFK	chr3:20381829-20382317	K562	blood:	n/a	n/a
27	CTCF	chr3:20381747-20382174	MCF-7	breast:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
28	CTCF	chr3:20381846-20382148	K562	blood:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
29	CTCF	chr3:20381707-20382294	HCT-116	colon:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
30	RAD21	chr3:20381491-20382589	SK-N-SH	brain:	n/a	chr3:20381989-20382008 chr3:20381992-20382005 chr3:20381990-20382004
31	CTCF	chr3:20381852-20382141	Fibrobl	skin:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
32	CTCF	chr3:20381861-20382107	ECC-1	luminal epithelium:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
33	CTCF	chr3:20381830-20382135	Spleen_OC	spleen:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
34	BRCA1	chr3:20381852-20382113	Hela-S3	cervix:	n/a	n/a
35	RCOR1	chr3:20381858-20382159	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr3:20381840-20382192	K562	blood:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
37	RAD21	chr3:20381794-20382236	SK-N-SH_RA	brain:	n/a	chr3:20381989-20382008 chr3:20381992-20382005 chr3:20381990-20382004
38	ZC3H11A	chr3:20381821-20382216	K562	blood:	n/a	n/a
39	RAD21	chr3:20381813-20382214	IMR90	lung:	n/a	chr3:20381989-20382008 chr3:20381992-20382005 chr3:20381990-20382004
40	CTCF	chr3:20381851-20382132	HUVEC	blood vessel:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
41	CTCF	chr3:20381848-20382134	ProgFib	skin:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
42	RAD21	chr3:20381824-20382182	A549	lung:	n/a	chr3:20381989-20382008 chr3:20381992-20382005 chr3:20381990-20382004
43	GTF2F1	chr3:20381819-20382095	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr3:20381719-20382215	ECC-1	luminal epithelium:	n/a	chr3:20381989-20382008 chr3:20381992-20382005 chr3:20381990-20382004
45	ZNF143	chr3:20381824-20382196	K562	blood:	n/a	n/a
46	CTCF	chr3:20381846-20382135	Hela-S3	cervix:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
47	CTCF	chr3:20381779-20382164	K562	blood:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
48	CTCF	chr3:20381704-20382273	SK-N-SH	brain:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
49	CTCF	chr3:20381868-20382143	MCF-7	breast:	n/a	chr3:20381990-20382011 chr3:20381988-20382006 chr3:20381991-20382004
50	CEBPB	chr3:20381826-20382192	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:20381671..20382483-chr3:21592493..21593315,3	MCF-7	breast:
2	chr3:20381636..20382451-chr3:20971371..20972187,4	MCF-7	breast:
3	chr3:20381603..20382455-chr3:22159036..22159808,2	K562	blood:
4	chr20:55749599..55750399-chr3:20381742..20382481,2	MCF-7	breast:
5	chr3:20375934..20377835-chr3:20379796..20382067,2	MCF-7	breast:
6	chr3:20381610..20382290-chr3:22159023..22159894,2	MCF-7	breast:
7	chr3:20381763..20382471-chr3:21525223..21526354,4	MCF-7	breast:
8	chr3:20381733..20382301-chr3:21331781..21332364,2	MCF-7	breast:
9	chr3:20381543..20382061-chr3:21935726..21936559,2	MCF-7	breast:
10	chr3:20381373..20383643-chr3:20384207..20386125,2	K562	blood:

Variant related genes	Relation type
ENSG00000231304	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11128952	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11719694	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12107889	0.86[EUR][1000 genomes]
rs12489904	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12635141	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12714986	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12714987	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13084801	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1356791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1356792	0.94[AFR][1000 genomes]
rs1401923	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1401924	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464293	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs939296	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs939297	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9821725	0.94[AFR][1000 genomes]
rs9836392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9838906	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9851602	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv1829542	chr3:20009231-20384627	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv433359	chr3:20090908-20587572	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv470450	chr3:20096735-20389045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1001006	chr3:20110743-20752628	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv536512	chr3:20110743-20752628	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv1829018	chr3:20116077-20596244	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
10	esv1827700	chr3:20119716-20489086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	esv1828816	chr3:20136508-20389045	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	esv1832674	chr3:20152772-20605302	Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
13	esv1831853	chr3:20157077-20615273	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	esv1833208	chr3:20157077-20638228	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
15	esv2422249	chr3:20163608-20626956	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	esv1826144	chr3:20164282-20638228	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	esv1831289	chr3:20191506-20617984	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	esv1829847	chr3:20196923-20638228	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	esv1830113	chr3:20200232-20430932	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	nsv876598	chr3:20242143-20970042	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv876599	chr3:20264950-20813009	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	esv2757860	chr3:20265587-20540628	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	esv2759132	chr3:20265587-20540628	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv834628	chr3:20265608-20424087	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv876600	chr3:20273130-20674832	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
26	nsv460456	chr3:20305232-20436493	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
27	nsv589856	chr3:20305232-20436493	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
28	esv1829107	chr3:20322019-20391205	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
29	nsv428414	chr3:20376250-20540628	Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20379000-20382000	Weak transcription	K562	blood
2	chr3:20380200-20382400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:20380200-20382600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:20380400-20382000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:20380400-20382200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:20380400-20382400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:20380600-20382000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:20381000-20382000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:20381800-20382000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:20381800-20382400	Enhancers	Aorta	Aorta

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