Variant report

Variant	rs151191463
Chromosome Location	chr11:47292584-47292585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:173)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:173 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr11:47292430-47292762	GM12878	blood:	n/a	n/a
2	RCOR1	chr11:47292237-47293097	K562	blood:	n/a	n/a
3	ARID3A	chr11:47292332-47292728	K562	blood:	n/a	n/a
4	CTCF	chr11:47292460-47292610	BE2_C	brain:	n/a	n/a
5	REST	chr11:47291365-47293183	HL-60	blood:	n/a	chr11:47291653-47291663 chr11:47292130-47292137
6	CTCF	chr11:47292460-47292610	HFF	foreskin:	n/a	n/a
7	RCOR1	chr11:47292206-47292754	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr11:47292290-47292865	HCT-116	colon:	n/a	n/a
9	KAP1	chr11:47292297-47293100	HEK293	kidney:	n/a	n/a
10	CTCF	chr11:47292580-47292730	AG10803	skin:	n/a	n/a
11	CTCF	chr11:47292580-47292730	GM12878	blood:	n/a	n/a
12	CTCF	chr11:47292540-47292690	HPAF	blood vessel:	n/a	n/a
13	POLR2A	chr11:47290109-47292622	K562	blood:	n/a	n/a
14	MXI1	chr11:47292121-47292696	Hela-S3	cervix:	n/a	n/a
15	RAD21	chr11:47292396-47292820	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr11:47292500-47292650	MCF-7	breast:	n/a	n/a
17	CTCF	chr11:47292563-47292711	HepG2	liver:	n/a	n/a
18	CTCF	chr11:47292500-47292650	GM06990	blood:	n/a	n/a
19	CTCF	chr11:47292560-47292710	HMEC	breast:	n/a	n/a
20	CTCF	chr11:47292540-47292690	NHDF-neo	bronchial:	n/a	n/a
21	GATA2	chr11:47292240-47293153	SH-SY5Y	brain:	n/a	chr11:47293019-47293029
22	POLR2A	chr11:47292080-47292707	H1-neurons	neurons:	n/a	n/a
23	RUNX3	chr11:47292274-47292698	GM12878	blood:	n/a	chr11:47292502-47292519
24	POLR2A	chr11:47292220-47292819	K562	blood:	n/a	n/a
25	CTCF	chr11:47292520-47292670	GM12872	blood:	n/a	n/a
26	USF2	chr11:47292421-47292701	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr11:47292540-47292690	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr11:47292480-47292630	GM12872	blood:	n/a	n/a
29	MAZ	chr11:47292410-47292633	GM12878	blood:	n/a	n/a
30	CTCF	chr11:47292506-47292761	HepG2	liver:	n/a	n/a
31	BRCA1	chr11:47292264-47292832	Hela-S3	cervix:	n/a	n/a
32	REST	chr11:47291439-47292584	K562	blood:	n/a	chr11:47291653-47291663 chr11:47292130-47292137
33	TAL1	chr11:47292428-47292715	K562	blood:	n/a	n/a
34	ZC3H11A	chr11:47292515-47292594	K562	blood:	n/a	n/a
35	MAFK	chr11:47292265-47292832	Hela-S3	cervix:	n/a	chr11:47292470-47292487
36	CTCF	chr11:47292540-47292690	GM12864	blood:	n/a	n/a
37	CTCF	chr11:47292423-47292810	GM12878	blood:	n/a	n/a
38	CTCF	chr11:47292560-47292710	HPF	lung:	n/a	n/a
39	CTCF	chr11:47292580-47292730	AG09319	gingival:	n/a	n/a
40	ELK1	chr11:47292578-47292777	K562	blood:	n/a	n/a
41	RFX5	chr11:47292249-47292739	Hela-S3	cervix:	n/a	chr11:47292564-47292579
42	RAD21	chr11:47292499-47292792	HepG2	liver:	n/a	n/a
43	CTCF	chr11:47292540-47292690	HEEpiC	esophagus:	n/a	n/a
44	REST	chr11:47291912-47292889	SK-N-SH	brain:	n/a	chr11:47292130-47292137
45	RCOR1	chr11:47292345-47292681	HepG2	liver:	n/a	n/a
46	CTCF	chr11:47292560-47292710	SK-N-SH_RA	brain:	n/a	n/a
47	POLR2A	chr11:47292129-47292732	H1-neurons	neurons:	n/a	n/a
48	CTCF	chr11:47292500-47292650	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr11:47292540-47292690	SK-N-SH_RA	brain:	n/a	n/a
50	BHLHE40	chr11:47292150-47292816	K562	blood:	n/a	n/a

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47292004..47292682-chr11:47376539..47377229,2	MCF-7	breast:
2	chr11:47267881..47272421-chr11:47288787..47294481,12	K562	blood:
3	chr11:47290254..47293439-chr11:47374246..47378968,6	MCF-7	breast:
4	chr11:46867608..46869466-chr11:47290892..47293495,3	MCF-7	breast:
5	chr11:47195816..47200318-chr11:47289518..47292814,8	K562	blood:
6	chr11:47292359..47292934-chr16:87551044..87551823,2	Hela-S3	cervix:
7	chr11:47194502..47201735-chr11:47289181..47294156,14	K562	blood:
8	chr11:47292200..47292859-chr11:47429308..47429854,2	MCF-7	breast:
9	chr11:47291353..47293892-chr11:47343454..47345274,2	K562	blood:
10	chr11:47289567..47294786-chr11:47310778..47315538,7	MCF-7	breast:
11	chr11:46401780..46403457-chr11:47290200..47292891,2	MCF-7	breast:
12	chr11:47279843..47284326-chr11:47288675..47293634,16	MCF-7	breast:
13	chr11:47263865..47272320-chr11:47288426..47294726,14	MCF-7	breast:
14	chr11:47290951..47293321-chr11:47445782..47448016,2	K562	blood:
15	chr11:47277336..47279783-chr11:47290576..47292976,4	MCF-7	breast:
16	chr11:47235321..47238553-chr11:47290387..47292949,4	K562	blood:
17	chr11:47291588..47294118-chr11:47313687..47316370,3	K562	blood:
18	chr11:47277979..47283267-chr11:47289057..47293509,9	K562	blood:
19	chr11:47268938..47272778-chr11:47288986..47293565,7	MCF-7	breast:
20	chr11:47268303..47273264-chr11:47289525..47294481,12	K562	blood:
21	chr11:47195231..47200543-chr11:47288487..47293127,12	MCF-7	breast:
22	chr11:47292062..47293120-chr11:47376381..47377320,5	MCF-7	breast:
23	chr11:47205837..47210171-chr11:47289770..47293955,7	MCF-7	breast:
24	chr11:47291167..47293193-chr11:47345602..47348128,2	K562	blood:
25	chr11:47290389..47294105-chr11:47428413..47432863,5	MCF-7	breast:
26	chr11:47290429..47293321-chr11:47445782..47448351,3	K562	blood:
27	chr11:47234552..47236757-chr11:47290593..47292750,2	MCF-7	breast:
28	chr11:47196068..47203526-chr11:47288943..47293025,13	MCF-7	breast:
29	chr11:47206281..47210029-chr11:47290997..47292963,3	K562	blood:

No data

Variant related genes	Relation type
MADD	TF binding region
ENSG00000247675	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000175216	Chromatin interaction
ENSG00000165916	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000134571	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000025434	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	esv3407193	chr11:47290401-47292949	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	esv3436371	chr11:47291576-47292674	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47290400-47292800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:47290600-47292600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:47290600-47292600	Active TSS	Ovary	ovary
4	chr11:47290600-47292800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:47290600-47292800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr11:47290600-47292800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr11:47290600-47294000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:47290800-47292600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:47290800-47292600	Active TSS	Aorta	Aorta
10	chr11:47290800-47292600	Active TSS	Small Intestine	intestine
11	chr11:47291000-47292600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:47291000-47292600	Active TSS	Brain Germinal Matrix	brain
13	chr11:47291000-47292600	Active TSS	HepG2	liver
14	chr11:47291000-47292600	Active TSS	NHDF-Ad	bronchial
15	chr11:47291000-47292800	Active TSS	A549	lung
16	chr11:47291000-47292800	Active TSS	GM12878-XiMat	blood
17	chr11:47291000-47293000	Active TSS	Left Ventricle	heart
18	chr11:47291600-47292600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:47291800-47292600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:47291800-47292600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:47292000-47292600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:47292000-47292800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:47292200-47292600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:47292200-47292600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:47292200-47292600	Flanking Active TSS	Liver	Liver
26	chr11:47292200-47292600	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr11:47292200-47292600	Flanking Active TSS	Placenta	Placenta
28	chr11:47292200-47292600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
29	chr11:47292200-47292600	Flanking Active TSS	Psoas Muscle	Psoas
30	chr11:47292200-47292600	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr11:47292200-47292800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:47292200-47292800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr11:47292200-47292800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:47292200-47292800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr11:47292200-47292800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr11:47292200-47292800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:47292200-47292800	Flanking Active TSS	Fetal Heart	heart
38	chr11:47292200-47292800	Flanking Active TSS	Fetal Lung	lung
39	chr11:47292200-47292800	Flanking Active TSS	Fetal Stomach	stomach
40	chr11:47292200-47292800	Flanking Active TSS	Pancreas	Pancrea
41	chr11:47292200-47292800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr11:47292200-47292800	Flanking Active TSS	HUVEC	blood vessel
43	chr11:47292200-47293000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr11:47292200-47293000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr11:47292200-47293000	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr11:47292200-47293000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:47292200-47293000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr11:47292200-47293000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:47292200-47293000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:47292200-47293000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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