Variant report

Variant	rs192487987
Chromosome Location	chr11:64103110-64103111
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	TCF12	chr11:64102264-64103133	A549	lung:	n/a	n/a
2	MYC	chr11:64102504-64103112	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr11:64102239-64103175	K562	blood:	n/a	chr11:64102778-64102789
4	IKZF1	chr11:64102396-64103205	GM12878	blood:	n/a	n/a
5	TEAD4	chr11:64102164-64103293	K562	blood:	n/a	n/a
6	ZMIZ1	chr11:64102474-64103161	K562	blood:	n/a	n/a
7	GABPA	chr11:64102485-64103125	K562	blood:	n/a	n/a
8	CEBPD	chr11:64102371-64103124	K562	blood:	n/a	n/a
9	CEBPB	chr11:64102464-64103219	Hela-S3	cervix:	n/a	chr11:64102778-64102789
10	MAX	chr11:64102385-64103119	ECC-1	luminal epithelium:	n/a	n/a
11	CCNT2	chr11:64102528-64103163	K562	blood:	n/a	n/a
12	NR2F2	chr11:64102463-64103173	MCF-7	breast:	n/a	n/a
13	STAT3	chr11:64102526-64103112	MCF10A-Er-Src	breast:	n/a	n/a
14	BHLHE40	chr11:64102509-64103281	GM12878	blood:	n/a	n/a
15	YY1	chr11:64102966-64103261	GM12878	blood:	n/a	n/a
16	FOS	chr11:64102479-64103182	HUVEC	blood vessel:	n/a	chr11:64102766-64102777 chr11:64102768-64102776
17	MAZ	chr11:64102336-64103207	IMR90	lung:	n/a	n/a
18	MYC	chr11:64102431-64103126	A549	lung:	n/a	n/a
19	STAT3	chr11:64102526-64103192	MCF10A-Er-Src	breast:	n/a	n/a
20	MAX	chr11:64102421-64103122	MCF-7	breast:	n/a	n/a
21	MAX	chr11:64102445-64103224	Hela-S3	cervix:	n/a	n/a
22	RCOR1	chr11:64102279-64103220	K562	blood:	n/a	n/a
23	FOSL1	chr11:64102311-64103252	HCT-116	colon:	n/a	chr11:64102768-64102776
24	JUN	chr11:64102491-64103175	K562	blood:	n/a	chr11:64102768-64102776
25	TCF12	chr11:64102337-64103131	SK-N-SH	brain:	n/a	n/a
26	SIN3AK20	chr11:64102292-64103148	HCT-116	colon:	n/a	n/a
27	FOS	chr11:64102480-64103180	K562	blood:	n/a	chr11:64102766-64102777 chr11:64102768-64102776
28	EGR1	chr11:64102546-64103154	ECC-1	luminal epithelium:	n/a	chr11:64102892-64102905 chr11:64102894-64102904 chr11:64102892-64102905 chr11:64102892-64102905 chr11:64102893-64102907 chr11:64102892-64102905 chr11:64102895-64102904
29	SIN3AK20	chr11:64102335-64103203	MCF-7	breast:	n/a	n/a
30	PAX5	chr11:64103012-64103256	GM12878	blood:	n/a	n/a
31	BHLHE40	chr11:64102465-64103190	K562	blood:	n/a	n/a
32	POLR2A	chr11:64102585-64103247	Raji	blood:	n/a	n/a
33	ARID3A	chr11:64102557-64103211	K562	blood:	n/a	n/a
34	CEBPB	chr11:64102201-64103374	HCT-116	colon:	n/a	chr11:64102778-64102789
35	NR2F2	chr11:64102433-64103111	MCF-7	breast:	n/a	n/a
36	FOS	chr11:64102427-64103269	MCF10A-Er-Src	breast:	n/a	chr11:64102766-64102777 chr11:64102768-64102776
37	CEBPB	chr11:64102456-64103119	ECC-1	luminal epithelium:	n/a	chr11:64102778-64102789
38	JUND	chr11:64102286-64103351	HCT-116	colon:	n/a	chr11:64102768-64102776
39	MAX	chr11:64102510-64103193	NB4	blood:	n/a	n/a
40	SIN3A	chr11:64102616-64103175	GM12878	blood:	n/a	chr11:64102851-64102862
41	GATA2	chr11:64102433-64103190	K562	blood:	n/a	chr11:64102766-64102775 chr11:64102671-64102685
42	POLR2A	chr11:64102560-64103212	GM12878	blood:	n/a	n/a
43	ZNF384	chr11:64102997-64103331	GM12878	blood:	n/a	n/a
44	MYC	chr11:64102477-64103229	MCF10A-Er-Src	breast:	n/a	n/a
45	TCF12	chr11:64103024-64103261	GM12878	blood:	n/a	n/a
46	EGR1	chr11:64102399-64103210	HCT-116	colon:	n/a	chr11:64102892-64102905 chr11:64102894-64102904 chr11:64102892-64102905 chr11:64102892-64102905 chr11:64102893-64102907 chr11:64102892-64102905 chr11:64102895-64102904
47	STAT3	chr11:64102724-64103188	MCF10A-Er-Src	breast:	n/a	n/a
48	FOSL1	chr11:64102395-64103254	K562	blood:	n/a	chr11:64102768-64102776
49	FOSL1	chr11:64102440-64103197	K562	blood:	n/a	chr11:64102768-64102776
50	JUN	chr11:64102480-64103168	K562	blood:	n/a	chr11:64102768-64102776

No.	Distal block	Cell Line	Cell type
1	chr11:64067284..64069866-chr11:64101359..64103336,2	MCF-7	breast:
2	chr11:64050804..64053573-chr11:64102476..64104397,2	MCF-7	breast:
3	chr11:64101319..64104244-chr11:64105881..64108198,2	MCF-7	breast:
4	chr11:64101193..64104883-chr11:64108788..64111496,4	MCF-7	breast:
5	chr11:64102252..64103199-chr11:64122319..64123180,2	K562	blood:
6	chr11:64097984..64104274-chr11:64108545..64113861,10	MCF-7	breast:
7	chr11:64086371..64087924-chr11:64102764..64104388,2	MCF-7	breast:
8	chr11:64005747..64008730-chr11:64101286..64103643,2	K562	blood:
9	chr11:64035765..64039535-chr11:64101198..64104019,4	K562	blood:

Variant related genes	Relation type
CCDC88B	TF binding region
ENSG00000173264	Chromatin interaction
ENSG00000219435	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000002330	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
6	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
7	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
8	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer 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 miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
10	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
11	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
12	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
13	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
14	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
15	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
17	nsv555192	chr11:64097233-64111928	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	n/a
18	nsv818840	chr11:64097233-64125142	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
19	nsv818841	chr11:64097233-64129722	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
20	esv3450915	chr11:64102626-64104624	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64087000-64108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:64089400-64106800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:64091600-64106400	Weak transcription	Primary T cells from cord blood	blood
4	chr11:64099600-64107600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:64099800-64105600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:64099800-64106400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:64099800-64106400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:64099800-64106400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:64099800-64106400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:64099800-64106800	Weak transcription	Thymus	Thymus
11	chr11:64099800-64107600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:64099800-64108000	Weak transcription	Brain Anterior Caudate	brain
13	chr11:64099800-64108000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:64099800-64108200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:64099800-64108400	Weak transcription	Left Ventricle	heart
16	chr11:64099800-64109600	Weak transcription	Liver	Liver
17	chr11:64100000-64104800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:64100000-64104800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:64100000-64105000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:64100000-64105600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:64100000-64106400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:64100000-64106400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:64100000-64106600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:64100000-64107000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:64100000-64109000	Weak transcription	Pancreas	Pancrea
26	chr11:64100200-64106400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr11:64100200-64107000	Weak transcription	Esophagus	oesophagus
28	chr11:64100200-64108000	Weak transcription	Lung	lung
29	chr11:64100200-64108200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:64101000-64106200	Enhancers	K562	blood
31	chr11:64101400-64103200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr11:64101600-64103400	Enhancers	Primary B cells from cord blood	blood
33	chr11:64102000-64103400	Enhancers	Placenta	Placenta
34	chr11:64102000-64103800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:64102000-64104000	Enhancers	Primary B cells from peripheral blood	blood
36	chr11:64102200-64103200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:64102200-64103200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:64102200-64103200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:64102200-64103200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:64102200-64103200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr11:64102200-64103200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:64102200-64103200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr11:64102200-64103200	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr11:64102200-64103200	Enhancers	NHLF	lung
45	chr11:64102200-64103400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr11:64102200-64103400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:64102200-64103400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:64102200-64103400	Enhancers	Fetal Intestine Large	intestine
49	chr11:64102200-64103400	Enhancers	Fetal Intestine Small	intestine
50	chr11:64102200-64103800	Enhancers	GM12878-XiMat	blood

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