Variant report

Variant	rs527803344
Chromosome Location	chr11:67142477-67142478
allele	C/T
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	EP300	chr11:67140889-67143973	A549	lung:	n/a	chr11:67141604-67141611 chr11:67143538-67143554 chr11:67140948-67140964 chr11:67141185-67141199
2	SIX5	chr11:67140867-67142749	A549	lung:	n/a	chr11:67141928-67141937
3	MAX	chr11:67141380-67142614	A549	lung:	n/a	n/a
4	POLR2A	chr11:67140037-67142665	Hela-S3	cervix:	n/a	n/a
5	FOXA2	chr11:67141025-67142703	A549	lung:	n/a	chr11:67142411-67142423
6	EP300	chr11:67140327-67143351	ECC-1	luminal epithelium:	n/a	chr11:67141604-67141611 chr11:67140948-67140964 chr11:67141185-67141199 chr11:67140686-67140702
7	SP1	chr11:67140841-67144091	A549	lung:	n/a	chr11:67143748-67143762 chr11:67141289-67141303 chr11:67141574-67141588 chr11:67141470-67141484 chr11:67141363-67141372 chr11:67141370-67141379 chr11:67141258-67141272 chr11:67141368-67141380 chr11:67140960-67140974 chr11:67140956-67140968 chr11:67143704-67143718 chr11:67141262-67141276 chr11:67143744-67143753 chr11:67141362-67141374 chr11:67142152-67142166 chr11:67141462-67141474 chr11:67142824-67142838 chr11:67140957-67140966 chr11:67142668-67142677 chr11:67143749-67143758 chr11:67141369-67141378 chr11:67141462-67141474 chr11:67140958-67140967 chr11:67141362-67141374 chr11:67141463-67141472 chr11:67141255-67141269 chr11:67142658-67142670 chr11:67142659-67142668 chr11:67142655-67142669 chr11:67142659-67142669 chr11:67141365-67141379 chr11:67141370-67141379 chr11:67143743-67143757 chr11:67141244-67141258 chr11:67141368-67141380 chr11:67142658-67142670 chr11:67140956-67140968
8	CEBPB	chr11:67140890-67142772	A549	lung:	n/a	n/a
9	MAX	chr11:67141159-67142664	ECC-1	luminal epithelium:	n/a	chr11:67141256-67141266 chr11:67141367-67141377
10	SP1	chr11:67141010-67143373	HCT-116	colon:	n/a	chr11:67141289-67141303 chr11:67141574-67141588 chr11:67141470-67141484 chr11:67141363-67141372 chr11:67141370-67141379 chr11:67141258-67141272 chr11:67141368-67141380 chr11:67141262-67141276 chr11:67141362-67141374 chr11:67142152-67142166 chr11:67141462-67141474 chr11:67142824-67142838 chr11:67142668-67142677 chr11:67141369-67141378 chr11:67141462-67141474 chr11:67141362-67141374 chr11:67141463-67141472 chr11:67141255-67141269 chr11:67142658-67142670 chr11:67142659-67142668 chr11:67142655-67142669 chr11:67142659-67142669 chr11:67141365-67141379 chr11:67141370-67141379 chr11:67141244-67141258 chr11:67141368-67141380 chr11:67142658-67142670
11	MAX	chr11:67140849-67144150	A549	lung:	n/a	chr11:67141256-67141266 chr11:67141367-67141377
12	POLR2A	chr11:67142202-67142668	Hela-S3	cervix:	n/a	n/a
13	RCOR1	chr11:67140534-67142921	IMR90	lung:	n/a	n/a
14	POLR2A	chr11:67142195-67142698	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr11:67140497-67142891	U87	brain:	n/a	n/a
16	CREB1	chr11:67142347-67142725	A549	lung:	n/a	n/a
17	POLR2A	chr11:67142315-67142668	HCT-116	colon:	n/a	n/a
18	RCOR1	chr11:67142414-67142614	Hela-S3	cervix:	n/a	n/a
19	HDAC2	chr11:67140997-67142519	MCF-7	breast:	n/a	chr11:67141185-67141199 chr11:67141186-67141200 chr11:67141148-67141162 chr11:67141149-67141163 chr11:67141150-67141164 chr11:67141184-67141198 chr11:67141187-67141201 chr11:67141182-67141196 chr11:67141188-67141202
20	ZBTB33	chr11:67141339-67142501	A549	lung:	n/a	n/a
21	RFX5	chr11:67141505-67142509	Hela-S3	cervix:	n/a	chr11:67141897-67141912
22	TEAD4	chr11:67141340-67142684	ECC-1	luminal epithelium:	n/a	n/a
23	CHD1	chr11:67140091-67142532	IMR90	lung:	n/a	chr11:67140198-67140208 chr11:67141370-67141380 chr11:67141258-67141268
24	MYC	chr11:67141300-67142613	Hela-S3	cervix:	n/a	chr11:67141367-67141377
25	FOXA2	chr11:67141147-67143346	A549	lung:	n/a	chr11:67142411-67142423
26	SMC3	chr11:67142415-67142647	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:67138593-67142764	PANC-1	pancreas:	n/a	n/a
28	SMARCC1	chr11:67141360-67142596	Hela-S3	cervix:	n/a	chr11:67141991-67142000
29	HEY1	chr11:67142342-67142631	K562	blood:	n/a	n/a
30	POLR2A	chr11:67140102-67142726	Hela-S3	cervix:	n/a	n/a
31	SP1	chr11:67140380-67144001	A549	lung:	n/a	chr11:67143748-67143762 chr11:67141289-67141303 chr11:67141574-67141588 chr11:67141470-67141484 chr11:67141363-67141372 chr11:67141370-67141379 chr11:67141258-67141272 chr11:67141368-67141380 chr11:67140960-67140974 chr11:67140956-67140968 chr11:67143704-67143718 chr11:67141262-67141276 chr11:67143744-67143753 chr11:67141362-67141374 chr11:67142152-67142166 chr11:67141462-67141474 chr11:67142824-67142838 chr11:67140957-67140966 chr11:67142668-67142677 chr11:67143749-67143758 chr11:67141369-67141378 chr11:67141462-67141474 chr11:67140958-67140967 chr11:67141362-67141374 chr11:67141463-67141472 chr11:67141255-67141269 chr11:67142658-67142670 chr11:67142659-67142668 chr11:67142655-67142669 chr11:67142659-67142669 chr11:67141365-67141379 chr11:67141370-67141379 chr11:67143743-67143757 chr11:67141244-67141258 chr11:67141368-67141380 chr11:67142658-67142670 chr11:67140956-67140968
32	TCF12	chr11:67137930-67144339	A549	lung:	n/a	chr11:67138193-67138203 chr11:67139958-67139965 chr11:67139242-67139249 chr11:67141661-67141671 chr11:67144056-67144066 chr11:67138192-67138199 chr11:67142524-67142532 chr11:67139957-67139967 chr11:67142516-67142526 chr11:67139956-67139963
33	POLR2A	chr11:67142370-67142639	A549	lung:	n/a	n/a
34	MAX	chr11:67141385-67142640	Hela-S3	cervix:	n/a	n/a
35	YY1	chr11:67141000-67142642	A549	lung:	n/a	chr11:67141468-67141479 chr11:67141019-67141033 chr11:67141369-67141378
36	ZBTB7A	chr11:67140316-67142522	ECC-1	luminal epithelium:	n/a	n/a
37	MXI1	chr11:67141536-67142546	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr11:67138915-67142701	MCF-7	breast:	n/a	n/a
39	NRF1	chr11:67142449-67142506	GM12878	blood:	n/a	n/a
40	NFIC	chr11:67140935-67142750	ECC-1	luminal epithelium:	n/a	n/a
41	TAF1	chr11:67142437-67142687	SK-N-SH	brain:	n/a	n/a
42	MYC	chr11:67140794-67142764	A549	lung:	n/a	chr11:67141256-67141266 chr11:67141367-67141377
43	TFAP2C	chr11:67141506-67142490	Hela-S3	cervix:	n/a	chr11:67141826-67141841
44	POLR2A	chr11:67141205-67142690	A549	lung:	n/a	n/a
45	BCL3	chr11:67140853-67142816	A549	lung:	n/a	chr11:67140958-67140967 chr11:67141685-67141698
46	CHD2	chr11:67140982-67142665	Hela-S3	cervix:	n/a	chr11:67141370-67141380 chr11:67141258-67141268
47	POLR2A	chr11:67142428-67142611	Gliobla	brain:	n/a	n/a
48	JUND	chr11:67141257-67142704	HCT-116	colon:	n/a	chr11:67141685-67141694 chr11:67141991-67142001 chr11:67141990-67142002 chr11:67141990-67142001 chr11:67141992-67142000 chr11:67141993-67142004 chr11:67142329-67142340 chr11:67141991-67142001 chr11:67141991-67142001
49	REST	chr11:67141216-67142661	A549	lung:	n/a	chr11:67141416-67141425 chr11:67141748-67141761 chr11:67141631-67141644 chr11:67142234-67142247 chr11:67142611-67142624
50	ZBTB7A	chr11:67140504-67142544	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67140165..67142541-chr11:67273740..67276217,2	MCF-7	breast:
2	chr11:66821897..66826528-chr11:67139094..67144065,11	MCF-7	breast:
3	chr11:67083205..67091159-chr11:67142322..67150295,9	MCF-7	breast:
4	chr1:110752769..110754407-chr11:67141303..67143426,2	MCF-7	breast:
5	chr11:67053474..67057507-chr11:67138689..67143945,8	MCF-7	breast:
6	chr11:67033933..67038277-chr11:67140224..67143646,5	MCF-7	breast:
7	chr11:67140268..67142517-chr20:55839534..55841832,2	MCF-7	breast:
8	chr11:67141172..67143536-chr11:67171363..67173683,2	K562	blood:
9	chr11:67137032..67142528-chr11:67234580..67238729,6	MCF-7	breast:
10	chr11:67141684..67144612-chr14:62266117..62268626,2	MCF-7	breast:
11	chr11:67077940..67083214-chr11:67140082..67142904,6	MCF-7	breast:
12	chr11:67138430..67143112-chr11:67157518..67161987,7	K562	blood:
13	chr11:67139623..67143035-chr11:67167894..67169679,3	K562	blood:
14	chr11:67140774..67143112-chr11:67157579..67159214,2	K562	blood:
15	chr11:67069246..67073295-chr11:67139634..67145393,8	MCF-7	breast:
16	chr11:67085218..67086846-chr11:67141974..67144447,2	K562	blood:
17	chr11:67140249..67142626-chr11:67380875..67383552,2	MCF-7	breast:
18	chr11:67078342..67081725-chr11:67139517..67143464,5	MCF-7	breast:
19	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
20	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:
21	chr11:67139414..67143301-chr11:67273275..67276817,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256514	TF binding region
CLCF1	TF binding region
ENSG00000231793	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000116396	Chromatin interaction
ENSG00000175463	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer 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	206 gene(s)	inside rSNPs	diseases
5	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	236 gene(s)	inside rSNPs	diseases
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
12	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
13	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
14	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
15	esv3334171	chr11:67142026-67144324	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67136800-67143600	Bivalent Enhancer	Fetal Thymus	thymus
2	chr11:67140600-67142600	Bivalent Enhancer	Fetal Brain Male	brain
3	chr11:67141000-67142600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr11:67141400-67142600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:67141400-67142600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:67141400-67142600	Flanking Active TSS	K562	blood
7	chr11:67141400-67142600	Flanking Active TSS	NH-A	brain
8	chr11:67141400-67142800	Flanking Active TSS	Hela-S3	cervix
9	chr11:67141600-67142600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
10	chr11:67141600-67142600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr11:67141600-67142600	Bivalent Enhancer	Fetal Heart	heart
12	chr11:67141600-67142600	Flanking Active TSS	HMEC	breast
13	chr11:67141600-67143600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr11:67141800-67142600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr11:67141800-67142600	Enhancers	Lung	lung
16	chr11:67141800-67142600	Enhancers	Ovary	ovary
17	chr11:67141800-67142600	Bivalent Enhancer	Thymus	Thymus
18	chr11:67141800-67142800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr11:67141800-67143200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr11:67141800-67143200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:67141800-67143200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr11:67141800-67143200	Bivalent Enhancer	Placenta	Placenta
23	chr11:67141800-67143600	Enhancers	Primary B cells from peripheral blood	blood
24	chr11:67141800-67143600	Enhancers	Esophagus	oesophagus
25	chr11:67141800-67143600	Enhancers	Pancreas	Pancrea
26	chr11:67141800-67143800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:67141800-67143800	Bivalent Enhancer	Fetal Brain Female	brain
28	chr11:67141800-67144000	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr11:67141800-67144200	Bivalent Enhancer	Brain Germinal Matrix	brain
30	chr11:67141800-67144200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr11:67141800-67152200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr11:67142000-67142600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:67142000-67142600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:67142000-67142600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr11:67142000-67142600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr11:67142000-67142600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:67142000-67142600	Bivalent Enhancer	GM12878-XiMat	blood
38	chr11:67142000-67142600	Flanking Active TSS	HSMM	muscle
39	chr11:67142000-67142600	Enhancers	HUVEC	blood vessel
40	chr11:67142000-67142600	Flanking Active TSS	Osteobl	bone
41	chr11:67142000-67142800	Bivalent Enhancer	Primary T cells from cord blood	blood
42	chr11:67142000-67143200	Enhancers	Primary B cells from cord blood	blood
43	chr11:67142000-67143200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr11:67142000-67143400	Enhancers	Fetal Lung	lung
45	chr11:67142000-67143600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:67142000-67143600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:67142000-67143600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:67142000-67143600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr11:67142000-67143800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr11:67142000-67144000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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