Variant report

Variant	rs563462681
Chromosome Location	chr11:67139140-67139141
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	CTCF	chr11:67139000-67139150	HCFaa	heart:	n/a	chr11:67139137-67139150
2	CTCF	chr11:67138940-67139180	Spleen_OC	spleen:	n/a	chr11:67139137-67139150
3	CTCF	chr11:67139020-67139170	HUVEC	blood vessel:	n/a	chr11:67139137-67139150
4	CTCF	chr11:67138951-67139192	Fibrobl	skin:	n/a	chr11:67139137-67139150
5	POLR2A	chr11:67138563-67140098	HL-60	blood:	n/a	n/a
6	CTCF	chr11:67139020-67139170	AG09319	gingival:	n/a	chr11:67139137-67139150
7	CTCF	chr11:67138869-67139245	IMR90	lung:	n/a	chr11:67139137-67139150
8	SP1	chr11:67138681-67140293	A549	lung:	n/a	chr11:67139670-67139684 chr11:67139762-67139776 chr11:67139211-67139221
9	RAD21	chr11:67138996-67139186	H1-hESC	embryonic stem cell:	n/a	chr11:67139107-67139117 chr11:67139136-67139150 chr11:67139066-67139075
10	CTCF	chr11:67139000-67139150	HRPEpiC	eye:	n/a	chr11:67139137-67139150
11	MAX	chr11:67138840-67139240	K562	blood:	n/a	chr11:67139214-67139223
12	BCL3	chr11:67138621-67140141	A549	lung:	n/a	chr11:67139091-67139104
13	POLR2A	chr11:67138922-67139175	HCT-116	colon:	n/a	n/a
14	CTCF	chr11:67138915-67139401	GM19238	blood:	n/a	chr11:67139137-67139150
15	CTCF	chr11:67139140-67139290	HAc	cerebellar:	n/a	n/a
16	RAD21	chr11:67138952-67139185	K562	blood:	n/a	chr11:67139107-67139117 chr11:67139136-67139150 chr11:67139066-67139075
17	CTCF	chr11:67138972-67139177	Pancreas_OC	pancreas:	n/a	chr11:67139137-67139150
18	RAD21	chr11:67138888-67139418	A549	lung:	n/a	chr11:67139107-67139117 chr11:67139136-67139150 chr11:67139066-67139075
19	SMC3	chr11:67138915-67139152	HepG2	liver:	n/a	chr11:67139107-67139117
20	MAX	chr11:67138970-67139167	K562	blood:	n/a	n/a
21	SMC3	chr11:67138909-67139221	GM12878	blood:	n/a	chr11:67139107-67139117
22	CTCF	chr11:67138983-67139157	GM10248	blood:	n/a	chr11:67139137-67139150
23	CTCF	chr11:67139040-67139190	GM12864	blood:	n/a	chr11:67139137-67139150
24	PAX5	chr11:67138844-67139175	GM12878	blood:	n/a	chr11:67139003-67139021
25	CTCF	chr11:67139000-67139150	HCM	heart:	n/a	chr11:67139137-67139150
26	USF1	chr11:67138844-67139527	A549	lung:	n/a	n/a
27	CTCF	chr11:67139000-67139150	HEK293	kidney:	n/a	chr11:67139137-67139150
28	CTCF	chr11:67138844-67139238	HepG2	liver:	n/a	chr11:67139137-67139150
29	CTCFL	chr11:67138912-67139147	K562	blood:	n/a	n/a
30	POLR2A	chr11:67134317-67140357	U87	brain:	n/a	n/a
31	CTCF	chr11:67138984-67139191	A549	lung:	n/a	chr11:67139137-67139150
32	CTCF	chr11:67139000-67139150	HCPEpiC	choroid plexus:	n/a	chr11:67139137-67139150
33	HDAC2	chr11:67138942-67139236	K562	blood:	n/a	n/a
34	EP300	chr11:67138695-67140234	A549	lung:	n/a	chr11:67140185-67140201
35	HCFC1	chr11:67138946-67139159	K562	blood:	n/a	n/a
36	CTCF	chr11:67139000-67139150	WERI-Rb-1	eye:	n/a	chr11:67139137-67139150
37	FOSL2	chr11:67138547-67139777	A549	lung:	n/a	n/a
38	ZNF143	chr11:67138948-67139230	GM12878	blood:	n/a	n/a
39	CTCF	chr11:67139020-67139170	AG09309	skin:	n/a	chr11:67139137-67139150
40	CTCF	chr11:67138977-67139167	Kidney_OC	kidney:	n/a	chr11:67139137-67139150
41	CTCF	chr11:67138965-67139184	K562	blood:	n/a	chr11:67139137-67139150
42	RUNX3	chr11:67138854-67139227	GM12878	blood:	n/a	n/a
43	TAF1	chr11:67138969-67141226	A549	lung:	n/a	n/a
44	RAD21	chr11:67138872-67139244	IMR90	lung:	n/a	chr11:67139107-67139117 chr11:67139136-67139150 chr11:67139066-67139075
45	CTCF	chr11:67138971-67139165	A549	lung:	n/a	chr11:67139137-67139150
46	CTCF	chr11:67139000-67139150	GM12871	blood:	n/a	chr11:67139137-67139150
47	SMC3	chr11:67138715-67139435	SK-N-SH	brain:	n/a	chr11:67139107-67139117
48	CTCF	chr11:67138784-67139334	MCF-7	breast:	n/a	chr11:67139137-67139150
49	CTCF	chr11:67139000-67139150	AG09309	skin:	n/a	chr11:67139137-67139150
50	RAD21	chr11:67138942-67139229	Hela-S3	cervix:	n/a	chr11:67139107-67139117 chr11:67139136-67139150 chr11:67139066-67139075

No.	Distal block	Cell Line	Cell type
1	chr11:67078307..67080022-chr11:67137493..67139530,2	MCF-7	breast:
2	chr11:67085099..67087143-chr11:67137966..67139875,2	K562	blood:
3	chr11:67138591..67140616-chr11:67149692..67150721,9	MCF-7	breast:
4	chr11:66821897..66826528-chr11:67139094..67144065,11	MCF-7	breast:
5	chr11:67138235..67140028-chr11:67271265..67273106,2	MCF-7	breast:
6	chr11:67006828..67010582-chr11:67138867..67142453,4	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	chr11:67137032..67142528-chr11:67234580..67238729,6	MCF-7	breast:
10	chr11:67138903..67140672-chr11:67189332..67192243,2	K562	blood:
11	chr11:67124495..67124996-chr11:67138599..67139534,2	MCF-7	breast:
12	chr11:67138865..67141337-chr11:67205315..67206965,2	K562	blood:
13	chr11:67138692..67139585-chr11:67149707..67150561,3	MCF-7	breast:
14	chr11:67124026..67125141-chr11:67138743..67139521,3	MCF-7	breast:
15	chr11:67138430..67143112-chr11:67157518..67161987,7	K562	blood:
16	chr11:67088208..67091047-chr11:67138396..67140194,2	MCF-7	breast:
17	chr11:67138420..67140492-chr11:67271610..67274474,2	K562	blood:
18	chr11:67138426..67140382-chr11:67217472..67219205,2	K562	blood:
19	chr11:67044106..67046398-chr11:67138784..67140765,2	K562	blood:
20	chr11:66886882..66888512-chr11:67137835..67140678,2	MCF-7	breast:
21	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
22	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:

Variant related genes	Relation type
CLCF1	TF binding region
ENSG00000172613	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000213402	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000175482	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv3404685	chr11:67139076-67142024	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	38 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	chr11:67125200-67139200	Weak transcription	Small Intestine	intestine
2	chr11:67131200-67139400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:67132400-67139200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:67132800-67139600	Weak transcription	Aorta	Aorta
5	chr11:67133200-67139200	Enhancers	Lung	lung
6	chr11:67134000-67139200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:67134400-67139400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:67135000-67139400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:67135200-67139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:67135400-67139200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:67135400-67139400	Enhancers	Primary hematopoietic stem cells	blood
12	chr11:67135400-67139400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr11:67135400-67139600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr11:67135600-67139200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr11:67136200-67139800	Weak transcription	NHEK	skin
16	chr11:67136400-67139200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:67136600-67139400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:67136600-67139400	Enhancers	HUVEC	blood vessel
19	chr11:67136600-67139600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:67136600-67139600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr11:67136600-67140000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:67136800-67139200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:67136800-67139200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:67136800-67139800	Transcr. at gene 5' and 3'	A549	lung
25	chr11:67136800-67143600	Bivalent Enhancer	Fetal Thymus	thymus
26	chr11:67137000-67139200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:67137000-67139200	Enhancers	Right Atrium	heart
28	chr11:67137000-67139600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:67137000-67139600	Enhancers	Ovary	ovary
30	chr11:67137000-67140000	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr11:67137200-67139600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:67137400-67139200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
33	chr11:67137400-67139400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr11:67137400-67139800	Enhancers	Fetal Heart	heart
35	chr11:67137600-67139200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:67137600-67139200	Enhancers	Fetal Kidney	kidney
37	chr11:67137600-67139400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr11:67137600-67139400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:67137600-67139400	Transcr. at gene 5' and 3'	HSMM	muscle
40	chr11:67137600-67139600	Bivalent Enhancer	Brain Germinal Matrix	brain
41	chr11:67137600-67140200	Bivalent Enhancer	Dnd41	blood
42	chr11:67137800-67139400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr11:67137800-67139400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
44	chr11:67137800-67139800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr11:67138000-67139200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:67138000-67139400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:67138000-67139600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:67138000-67139600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr11:67138000-67139600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:67138000-67139600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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