Variant report

Variant	rs544109555
Chromosome Location	chr11:67142151-67142152
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	RUNX3	chr11:67142050-67142271	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:67141207-67142366	A549	lung:	n/a	n/a
3	EP300	chr11:67140889-67143973	A549	lung:	n/a	chr11:67141604-67141611 chr11:67143538-67143554 chr11:67140948-67140964 chr11:67141185-67141199
4	SIX5	chr11:67140867-67142749	A549	lung:	n/a	chr11:67141928-67141937
5	MAX	chr11:67141380-67142614	A549	lung:	n/a	n/a
6	EP300	chr11:67141059-67142259	ECC-1	luminal epithelium:	n/a	chr11:67141604-67141611 chr11:67141185-67141199
7	MAX	chr11:67141410-67142269	MCF-7	breast:	n/a	n/a
8	SIN3AK20	chr11:67139835-67142256	MCF-7	breast:	n/a	n/a
9	POLR2A	chr11:67140037-67142665	Hela-S3	cervix:	n/a	n/a
10	ATF3	chr11:67141330-67142359	A549	lung:	n/a	chr11:67141369-67141378
11	NR3C1	chr11:67141498-67142203	A549	lung:	n/a	chr11:67141991-67142000 chr11:67141992-67142001
12	PBX3	chr11:67140994-67142227	SK-N-SH	brain:	n/a	n/a
13	CREB1	chr11:67140861-67142257	A549	lung:	n/a	n/a
14	FOXA2	chr11:67141025-67142703	A549	lung:	n/a	chr11:67142411-67142423
15	EP300	chr11:67140327-67143351	ECC-1	luminal epithelium:	n/a	chr11:67141604-67141611 chr11:67140948-67140964 chr11:67141185-67141199 chr11:67140686-67140702
16	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
17	TEAD4	chr11:67141524-67142259	ECC-1	luminal epithelium:	n/a	n/a
18	CEBPB	chr11:67140890-67142772	A549	lung:	n/a	n/a
19	MYC	chr11:67141589-67142216	K562	blood:	n/a	n/a
20	TEAD4	chr11:67141494-67142203	K562	blood:	n/a	n/a
21	MAX	chr11:67141159-67142664	ECC-1	luminal epithelium:	n/a	chr11:67141256-67141266 chr11:67141367-67141377
22	POLR2A	chr11:67140101-67142367	HL-60	blood:	n/a	n/a
23	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
24	FOSL2	chr11:67141013-67142318	SK-N-SH	brain:	n/a	chr11:67141685-67141694 chr11:67141991-67142001 chr11:67141990-67142002 chr11:67141992-67142000 chr11:67141993-67142004 chr11:67141991-67142001 chr11:67141991-67142001
25	POLR2A	chr11:67140566-67142161	SK-N-SH	brain:	n/a	n/a
26	MAX	chr11:67140849-67144150	A549	lung:	n/a	chr11:67141256-67141266 chr11:67141367-67141377
27	RCOR1	chr11:67140534-67142921	IMR90	lung:	n/a	n/a
28	GATA3	chr11:67141489-67142239	SK-N-SH	brain:	n/a	n/a
29	FOSL2	chr11:67141350-67142231	MCF-7	breast:	n/a	chr11:67141685-67141694 chr11:67141991-67142001 chr11:67141990-67142002 chr11:67141992-67142000 chr11:67141993-67142004 chr11:67141991-67142001 chr11:67141991-67142001
30	NR3C1	chr11:67141026-67142250	A549	lung:	n/a	chr11:67141469-67141482 chr11:67141476-67141489 chr11:67141991-67142000 chr11:67141289-67141302 chr11:67141992-67142001
31	GTF2F1	chr11:67141893-67142164	K562	blood:	n/a	n/a
32	MAFF	chr11:67141722-67142182	K562	blood:	n/a	n/a
33	CEBPB	chr11:67141560-67142241	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr11:67141516-67142198	IMR90	lung:	n/a	n/a
35	STAT3	chr11:67141620-67142230	Hela-S3	cervix:	n/a	chr11:67141819-67141831 chr11:67141793-67141805
36	POLR2A	chr11:67140497-67142891	U87	brain:	n/a	n/a
37	RELA	chr11:67141629-67142196	GM18951	blood:	n/a	n/a
38	NFIC	chr11:67141458-67142178	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr11:67142055-67142182	A549	lung:	n/a	n/a
40	NR3C1	chr11:67141413-67142211	A549	lung:	n/a	chr11:67141469-67141482 chr11:67141476-67141489 chr11:67141991-67142000 chr11:67141992-67142001
41	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
42	JUND	chr11:67141076-67142202	K562	blood:	n/a	chr11:67141685-67141694 chr11:67141991-67142001 chr11:67141990-67142002 chr11:67141990-67142001 chr11:67141992-67142000 chr11:67141993-67142004 chr11:67141991-67142001 chr11:67141991-67142001
43	HEY1	chr11:67141260-67142184	K562	blood:	n/a	chr11:67141412-67141427
44	USF1	chr11:67141485-67142179	A549	lung:	n/a	chr11:67141758-67141769
45	FOXM1	chr11:67141492-67142216	ECC-1	luminal epithelium:	n/a	n/a
46	ZBTB33	chr11:67141339-67142501	A549	lung:	n/a	n/a
47	POLR2A	chr11:67139835-67142244	K562	blood:	n/a	n/a
48	MAX	chr11:67141489-67142231	SK-N-SH	brain:	n/a	n/a
49	RFX5	chr11:67141505-67142509	Hela-S3	cervix:	n/a	chr11:67141897-67141912
50	TEAD4	chr11:67141340-67142684	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67140365..67142235-chr11:67187974..67189991,2	K562	blood:
2	chr11:67140165..67142541-chr11:67273740..67276217,2	MCF-7	breast:
3	chr11:66821897..66826528-chr11:67139094..67144065,11	MCF-7	breast:
4	chr11:67031846..67035344-chr11:67139453..67142374,3	K562	blood:
5	chr11:67006828..67010582-chr11:67138867..67142453,4	MCF-7	breast:
6	chr1:110752769..110754407-chr11:67141303..67143426,2	MCF-7	breast:
7	chr11:67053474..67057507-chr11:67138689..67143945,8	MCF-7	breast:
8	chr11:67138872..67142169-chr11:67249496..67254071,4	MCF-7	breast:
9	chr11:67033933..67038277-chr11:67140224..67143646,5	MCF-7	breast:
10	chr11:67141590..67142463-chr11:111749577..111750345,2	Hela-S3	cervix:
11	chr11:66823034..66824892-chr11:67139520..67142366,3	MCF-7	breast:
12	chr11:67120355..67120891-chr11:67141344..67142247,2	MCF-7	breast:
13	chr11:67140268..67142517-chr20:55839534..55841832,2	MCF-7	breast:
14	chr11:67141172..67143536-chr11:67171363..67173683,2	K562	blood:
15	chr11:67137032..67142528-chr11:67234580..67238729,6	MCF-7	breast:
16	chr11:67140319..67142184-chr11:67395845..67397635,2	MCF-7	breast:
17	chr11:67124136..67124774-chr11:67141523..67142327,3	MCF-7	breast:
18	chr11:67141684..67144612-chr14:62266117..62268626,2	MCF-7	breast:
19	chr11:67077940..67083214-chr11:67140082..67142904,6	MCF-7	breast:
20	chr11:67140485..67142430-chr11:67273527..67275502,2	K562	blood:
21	chr11:67138430..67143112-chr11:67157518..67161987,7	K562	blood:
22	chr11:67139623..67143035-chr11:67167894..67169679,3	K562	blood:
23	chr11:67140815..67142437-chr11:67396749..67399508,2	MCF-7	breast:
24	chr11:67140774..67143112-chr11:67157579..67159214,2	K562	blood:
25	chr11:67069246..67073295-chr11:67139634..67145393,8	MCF-7	breast:
26	chr11:67085218..67086846-chr11:67141974..67144447,2	K562	blood:
27	chr11:67140249..67142626-chr11:67380875..67383552,2	MCF-7	breast:
28	chr11:67078342..67081725-chr11:67139517..67143464,5	MCF-7	breast:
29	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
30	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:
31	chr11:67139414..67143301-chr11:67273275..67276817,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256514	TF binding region
CLCF1	TF binding region
ENSG00000175482	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000231793	Chromatin interaction
ENSG00000175463	Chromatin interaction
ENSG00000172508	Chromatin interaction
ENSG00000258529	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000137720	Chromatin interaction
ENSG00000255561	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000116396	Chromatin interaction
ENSG00000110711	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:123 , 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	chr11:67139600-67142400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr11:67139800-67142200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:67140200-67142200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:67140600-67142600	Bivalent Enhancer	Fetal Brain Male	brain
6	chr11:67141000-67142200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:67141000-67142200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
8	chr11:67141000-67142200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr11:67141000-67142600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr11:67141200-67142200	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr11:67141200-67142200	Enhancers	Brain Cingulate Gyrus	brain
12	chr11:67141200-67142200	Flanking Active TSS	Stomach Mucosa	stomach
13	chr11:67141200-67142200	Enhancers	Spleen	Spleen
14	chr11:67141200-67142400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:67141400-67142200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:67141400-67142200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr11:67141400-67142200	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr11:67141400-67142200	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr11:67141400-67142200	Flanking Active TSS	NHEK	skin
20	chr11:67141400-67142400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:67141400-67142400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:67141400-67142400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
23	chr11:67141400-67142400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:67141400-67142400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:67141400-67142400	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr11:67141400-67142400	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr11:67141400-67142600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:67141400-67142600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:67141400-67142600	Flanking Active TSS	K562	blood
30	chr11:67141400-67142600	Flanking Active TSS	NH-A	brain
31	chr11:67141400-67142800	Flanking Active TSS	Hela-S3	cervix
32	chr11:67141600-67142200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:67141600-67142200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:67141600-67142200	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
35	chr11:67141600-67142200	Flanking Active TSS	HSMMtube	muscle
36	chr11:67141600-67142400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr11:67141600-67142400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr11:67141600-67142400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr11:67141600-67142400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
40	chr11:67141600-67142400	Enhancers	Small Intestine	intestine
41	chr11:67141600-67142400	Flanking Active TSS	NHLF	lung
42	chr11:67141600-67142600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
43	chr11:67141600-67142600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr11:67141600-67142600	Bivalent Enhancer	Fetal Heart	heart
45	chr11:67141600-67142600	Flanking Active TSS	HMEC	breast
46	chr11:67141600-67143600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
47	chr11:67141800-67142200	Enhancers	Fetal Intestine Large	intestine
48	chr11:67141800-67142400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
49	chr11:67141800-67142400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:67141800-67142400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell

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