Variant report

Variant	rs372055249
Chromosome Location	chr11:64491498-64491499
allele	-/C
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	RELA	chr11:64490949-64491577	GM12892	blood:	n/a	chr11:64491351-64491360 chr11:64491351-64491360
2	RELA	chr11:64491041-64491752	GM18505	blood:	n/a	chr11:64491351-64491360 chr11:64491351-64491360
3	CTCF	chr11:64490929-64491508	GM12891	blood:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64490999-64491007 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
4	POLR2A	chr11:64491342-64494192	HL-60	blood:	n/a	n/a
5	RELA	chr11:64490787-64491982	GM12891	blood:	n/a	chr11:64491351-64491360 chr11:64491351-64491360
6	CTCF	chr11:64490816-64491609	GM12892	blood:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64490999-64491007 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
7	RELA	chr11:64490948-64491525	GM18526	blood:	n/a	chr11:64491351-64491360 chr11:64491351-64491360
8	CTCF	chr11:64491340-64491500	GM12878	blood:	n/a	n/a
9	EBF1	chr11:64490975-64491903	GM12878	blood:	n/a	chr11:64491367-64491378
10	MAZ	chr11:64490415-64491598	IMR90	lung:	n/a	n/a
11	SMC3	chr11:64490912-64491515	GM12878	blood:	n/a	chr11:64491105-64491119
12	EBF1	chr11:64491191-64491557	GM12878	blood:	n/a	chr11:64491367-64491378
13	POLR2A	chr11:64491423-64494233	HL-60	blood:	n/a	n/a
14	RELA	chr11:64490956-64491676	GM18951	blood:	n/a	chr11:64491351-64491360 chr11:64491351-64491360
15	RAD21	chr11:64490445-64492076	SK-N-SH	brain:	n/a	chr11:64490998-64491007 chr11:64491101-64491120 chr11:64490457-64490471 chr11:64491103-64491115 chr11:64491105-64491119
16	BHLHE40	chr11:64490970-64491570	GM12878	blood:	n/a	n/a
17	RUNX3	chr11:64490852-64491824	GM12878	blood:	n/a	n/a
18	SPI1	chr11:64491313-64491537	GM12891	blood:	n/a	n/a
19	EP300	chr11:64490408-64492176	SK-N-SH	brain:	n/a	chr11:64490825-64490841 chr11:64490790-64490803
20	RELA	chr11:64491004-64491773	GM19099	blood:	n/a	chr11:64491351-64491360 chr11:64491351-64491360
21	CHD2	chr11:64490568-64491598	GM12878	blood:	n/a	chr11:64490636-64490646 chr11:64490942-64490952 chr11:64490949-64490959 chr11:64490732-64490742
22	MTA3	chr11:64490910-64491848	GM12878	blood:	n/a	n/a
23	STAT1	chr11:64491088-64491506	GM12878	blood:	n/a	n/a
24	CTCF	chr11:64491440-64491590	NB4	blood:	n/a	n/a
25	CTCF	chr11:64491440-64491590	A549	lung:	n/a	n/a
26	SMC3	chr11:64490407-64492108	SK-N-SH	brain:	n/a	chr11:64491105-64491119
27	MAX	chr11:64490493-64491541	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr11:64491420-64491570	HEK293	kidney:	n/a	n/a
29	CTCF	chr11:64491400-64491550	HEK293	kidney:	n/a	n/a
30	EP300	chr11:64491090-64491523	GM12878	blood:	n/a	n/a
31	CTCF	chr11:64490487-64491821	SK-N-SH	brain:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64490999-64491007 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121
32	MAZ	chr11:64490643-64491597	GM12878	blood:	n/a	n/a
33	EBF1	chr11:64491150-64491927	GM12878	blood:	n/a	chr11:64491367-64491378
34	CTCF	chr11:64491420-64491570	HAc	cerebellar:	n/a	n/a
35	MXI1	chr11:64490482-64491990	SK-N-SH	brain:	n/a	n/a
36	RELA	chr11:64491080-64491573	GM10847	blood:	n/a	chr11:64491351-64491360 chr11:64491351-64491360
37	RELA	chr11:64491056-64491529	GM15510	blood:	n/a	chr11:64491351-64491360 chr11:64491351-64491360
38	RELA	chr11:64490966-64491590	GM19193	blood:	n/a	chr11:64491351-64491360 chr11:64491351-64491360
39	CTCF	chr11:64490601-64491563	HCT-116	colon:	n/a	chr11:64491104-64491120 chr11:64491122-64491131 chr11:64491105-64491118 chr11:64490999-64491007 chr11:64491098-64491119 chr11:64491105-64491118 chr11:64491103-64491121

No.	Distal block	Cell Line	Cell type
1	chr11:64489616..64492284-chr11:64509871..64511516,3	K562	blood:
2	chr11:64490193..64492198-chr11:64544563..64546459,2	MCF-7	breast:
3	chr11:64489296..64491902-chr11:64644473..64646300,2	MCF-7	breast:
4	chr11:64478255..64481463-chr11:64489766..64492365,3	K562	blood:
5	chr11:64418420..64419024-chr11:64490995..64491544,2	MCF-7	breast:
6	chr11:64490664..64492722-chr11:64991494..64993936,2	MCF-7	breast:
7	chr11:64491144..64492732-chr11:64505276..64507287,3	K562	blood:
8	chr11:64489351..64492621-chr11:64507509..64512935,5	K562	blood:

Variant related genes	Relation type
NRXN2	TF binding region
ENSG00000269038	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000110047	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
6	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
8	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
12	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
13	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
14	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription 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	1071 gene(s)	inside rSNPs	diseases
15	nsv359	chr11:64477008-64502873	Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
16	nsv555202	chr11:64477050-64573589	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
17	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
18	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
19	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
20	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
21	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
22	esv3324432	chr11:64489201-64492249	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
23	esv3409975	chr11:64489426-64491724	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64490600-64492000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:64490800-64491600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:64490800-64491600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:64490800-64491800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:64490800-64491800	Flanking Active TSS	GM12878-XiMat	blood
6	chr11:64490800-64492200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr11:64490800-64498000	Enhancers	Liver	Liver
8	chr11:64491000-64491600	Flanking Active TSS	Spleen	Spleen
9	chr11:64491000-64494200	Enhancers	Fetal Brain Male	brain
10	chr11:64491000-64502200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:64491200-64491600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:64491200-64491600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr11:64491200-64491600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:64491200-64491600	Flanking Active TSS	Fetal Brain Female	brain
15	chr11:64491200-64491600	Bivalent Enhancer	Fetal Intestine Small	intestine
16	chr11:64491200-64491600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr11:64491200-64491600	Bivalent Enhancer	Placenta	Placenta
18	chr11:64491200-64491600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:64491200-64491600	Bivalent Enhancer	Stomach Mucosa	stomach
20	chr11:64491200-64491600	Flanking Active TSS	A549	lung
21	chr11:64491200-64491600	Flanking Active TSS	Hela-S3	cervix
22	chr11:64491200-64491600	Enhancers	HMEC	breast
23	chr11:64491200-64491800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr11:64491200-64491800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:64491200-64491800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr11:64491200-64491800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:64491200-64491800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr11:64491200-64491800	Enhancers	Brain Substantia Nigra	brain
29	chr11:64491200-64492000	Enhancers	Primary T cells from cord blood	blood
30	chr11:64491200-64492000	Bivalent Enhancer	HepG2	liver
31	chr11:64491200-64492200	Bivalent Enhancer	Fetal Intestine Large	intestine
32	chr11:64491200-64492400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:64491200-64492400	Weak transcription	Thymus	Thymus
34	chr11:64491200-64492600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:64491200-64492800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:64491200-64492800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:64491200-64493000	Enhancers	Primary hematopoietic stem cells	blood
38	chr11:64491200-64493000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr11:64491200-64493200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:64491200-64493600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr11:64491200-64493600	Enhancers	Fetal Thymus	thymus
42	chr11:64491200-64493800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:64491200-64494000	Enhancers	Primary T cells fromperipheralblood	blood
44	chr11:64491200-64494200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:64491200-64494200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr11:64491200-64494200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr11:64491200-64494400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:64491200-64494800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:64491200-64496000	Weak transcription	Aorta	Aorta
50	chr11:64491200-64496200	Weak transcription	Lung	lung

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