Variant report

Variant	rs566369843
Chromosome Location	chr11:64948579-64948580
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	CTCF	chr11:64948423-64948589	HUVEC	blood vessel:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
2	CTCF	chr11:64948260-64948971	A549	lung:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
3	ELF1	chr11:64948356-64948610	K562	blood:	n/a	chr11:64948376-64948388
4	CTCF	chr11:64948342-64949004	GM19238	blood:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
5	CTCF	chr11:64948379-64948633	A549	lung:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
6	CEBPB	chr11:64948487-64948896	IMR90	lung:	n/a	chr11:64948627-64948638
7	FOXP2	chr11:64948359-64949127	PFSK-1	brain:	n/a	n/a
8	YY1	chr11:64948286-64948665	GM12892	blood:	n/a	chr11:64948445-64948456
9	CTCF	chr11:64948400-64948663	A549	lung:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
10	TBP	chr11:64948439-64948921	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:64948543-64949105	HCT-116	colon:	n/a	n/a
12	CTCF	chr11:64948346-64948966	GM19240	blood:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
13	CTCF	chr11:64948460-64948610	HPF	lung:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
14	HCFC1	chr11:64947881-64950489	Hela-S3	cervix:	n/a	n/a
15	RCOR1	chr11:64948365-64949658	K562	blood:	n/a	n/a
16	BCLAF1	chr11:64948346-64948729	GM12878	blood:	n/a	chr11:64948382-64948391
17	CTCF	chr11:64948480-64948630	NHEK	skin:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
18	CTCF	chr11:64948192-64949122	K562	blood:	n/a	chr11:64948480-64948501 chr11:64949016-64949029 chr11:64948487-64948500 chr11:64948485-64948503
19	EP300	chr11:64948443-64949452	K562	blood:	n/a	chr11:64948854-64948870 chr11:64948892-64948908
20	CTCF	chr11:64948440-64948590	NHEK	skin:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
21	POLR2A	chr11:64948577-64949130	A549	lung:	n/a	n/a
22	POLR2A	chr11:64948527-64949099	Hela-S3	cervix:	n/a	n/a
23	HDAC2	chr11:64948317-64949027	HepG2	liver:	n/a	n/a
24	MYC	chr11:64948366-64949644	K562	blood:	n/a	chr11:64949232-64949242 chr11:64948375-64948385 chr11:64948506-64948516 chr11:64949219-64949229
25	CTCF	chr11:64948411-64948596	Medullo	brain:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
26	CHD2	chr11:64948411-64949760	Hela-S3	cervix:	n/a	chr11:64949238-64949248 chr11:64948917-64948927
27	POLR2A	chr11:64948540-64949107	A549	lung:	n/a	n/a
28	CEBPB	chr11:64948544-64948798	K562	blood:	n/a	chr11:64948627-64948638
29	RAD21	chr11:64948267-64948708	GM12878	blood:	n/a	chr11:64948483-64948502 chr11:64948287-64948301 chr11:64948486-64948499
30	CTCF	chr11:64948460-64948610	HFF-Myc	foreskin:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
31	CCNT2	chr11:64948365-64949782	K562	blood:	n/a	chr11:64949237-64949246 chr11:64949473-64949482 chr11:64948762-64948771 chr11:64949276-64949296 chr11:64948445-64948454 chr11:64949594-64949603
32	POLR2A	chr11:64948320-64950225	HepG2	liver:	n/a	n/a
33	CTCF	chr11:64948440-64948590	RPTEC	kidney:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
34	RAD21	chr11:64948292-64948762	A549	lung:	n/a	chr11:64948483-64948502 chr11:64948486-64948499
35	SP1	chr11:64948350-64948861	GM12878	blood:	n/a	chr11:64948445-64948454 chr11:64948448-64948462 chr11:64948369-64948379
36	STAT5A	chr11:64948327-64948671	GM12878	blood:	n/a	n/a
37	BACH1	chr11:64948571-64949271	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr11:64948445-64949079	HL-60	blood:	n/a	n/a
39	MAX	chr11:64948355-64949013	K562	blood:	n/a	chr11:64948375-64948385 chr11:64948506-64948516
40	POLR2A	chr11:64948568-64949143	A549	lung:	n/a	n/a
41	TCF12	chr11:64948368-64949434	ECC-1	luminal epithelium:	n/a	chr11:64949062-64949072 chr11:64948946-64948956
42	CEBPB	chr11:64948405-64948875	MCF-7	breast:	n/a	chr11:64948627-64948638
43	BCLAF1	chr11:64948372-64948957	GM12878	blood:	n/a	chr11:64948784-64948797 chr11:64948892-64948905 chr11:64948382-64948391 chr11:64948864-64948877
44	TEAD4	chr11:64948423-64948829	K562	blood:	n/a	n/a
45	TBL1XR1	chr11:64948455-64948951	K562	blood:	n/a	n/a
46	MAX	chr11:64948419-64948990	ECC-1	luminal epithelium:	n/a	chr11:64948506-64948516
47	RAD21	chr11:64948248-64948764	ECC-1	luminal epithelium:	n/a	chr11:64948483-64948502 chr11:64948287-64948301 chr11:64948486-64948499
48	MAZ	chr11:64947750-64950092	IMR90	lung:	n/a	chr11:64949232-64949242 chr11:64948375-64948385 chr11:64949219-64949229
49	STAT5A	chr11:64948272-64948717	GM12878	blood:	n/a	n/a
50	CEBPB	chr11:64948472-64948906	Hela-S3	cervix:	n/a	chr11:64948627-64948638

No.	Distal block	Cell Line	Cell type
1	chr11:64897351..64905868-chr11:64946257..64954528,24	K562	blood:
2	chr11:64947686..64949760-chr11:64975928..64978193,2	MCF-7	breast:
3	chr11:64763361..64766296-chr11:64947138..64948729,2	K562	blood:
4	chr11:64948280..64951360-chr11:64970311..64973843,4	MCF-7	breast:
5	chr11:64894025..64897642-chr11:64945042..64952225,7	MCF-7	breast:
6	chr11:64943825..64947169-chr11:64947454..64950649,5	K562	blood:
7	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
8	chr11:64806998..64808499-chr11:64948414..64950755,2	MCF-7	breast:
9	chr11:64570704..64572363-chr11:64947696..64949572,2	MCF-7	breast:
10	chr11:64948264..64950913-chr11:64951274..64954036,3	MCF-7	breast:
11	chr11:64877899..64878692-chr11:64948009..64948993,4	MCF-7	breast:
12	chr11:64879725..64880624-chr11:64948063..64948868,2	MCF-7	breast:
13	chr11:64936062..64938583-chr11:64945871..64949706,4	MCF-7	breast:
14	chr11:64877480..64878722-chr11:64948008..64949236,4	K562	blood:
15	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
16	chr11:64946608..64950484-chr11:65027800..65030670,5	K562	blood:
17	chr11:64889440..64890069-chr11:64948423..64948930,2	MCF-7	breast:
18	chr11:64947644..64950610-chr11:65027945..65030670,5	K562	blood:
19	chr11:64900106..64905064-chr11:64945207..64950571,10	K562	blood:
20	chr11:64885115..64885976-chr11:64948064..64949006,5	MCF-7	breast:
21	chr11:64644475..64647391-chr11:64946794..64949864,4	K562	blood:
22	chr11:64912371..64919818-chr11:64945990..64951836,8	MCF-7	breast:
23	chr11:64882968..64888833-chr11:64945101..64949501,11	K562	blood:
24	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
25	chr11:64889010..64891240-chr11:64947236..64950448,4	K562	blood:
26	chr11:64888081..64892747-chr11:64946823..64951612,8	MCF-7	breast:
27	chr11:64947729..64951218-chr11:65027798..65031522,5	MCF-7	breast:
28	chr11:64778492..64782821-chr11:64947057..64951070,4	K562	blood:
29	chr11:64898025..64904360-chr11:64945543..64952640,32	MCF-7	breast:
30	chr11:64947252..64950708-chr11:65267391..65271454,4	K562	blood:
31	chr11:64947304..64949541-chr17:64959371..64962311,2	MCF-7	breast:
32	chr11:64948574..64950369-chr11:65028562..65030445,2	MCF-7	breast:
33	chr11:64849453..64851884-chr11:64947314..64948879,2	K562	blood:
34	chr11:64946026..64951451-chr11:65265686..65269219,7	MCF-7	breast:
35	chr11:64644921..64647626-chr11:64948017..64950319,4	K562	blood:

Variant related genes	Relation type
CAPN1	TF binding region
ENSG00000255200	TF binding region
ENSG00000254614	TF binding region
ENSG00000251562	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000254455	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000075461	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000168062	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000222477	Chromatin interaction
ENSG00000255200	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897713	chr11:64915042-65000719	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	esv3339354	chr11:64947901-64950749	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	32 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64947600-64948600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:64947600-64949800	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr11:64947600-64950400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:64947600-64950600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:64947600-64950800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:64947600-64951000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:64947800-64948600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:64947800-64948800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr11:64947800-64949600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr11:64947800-64950200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:64947800-64950400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr11:64947800-64950600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr11:64947800-64952200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr11:64948000-64948600	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr11:64948000-64948600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr11:64948000-64948600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr11:64948000-64948600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr11:64948000-64948600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:64948000-64948600	Flanking Active TSS	Liver	Liver
20	chr11:64948000-64948600	Flanking Active TSS	Fetal Stomach	stomach
21	chr11:64948000-64948600	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr11:64948000-64948600	Flanking Active TSS	Thymus	Thymus
23	chr11:64948000-64948600	Flanking Active TSS	Hela-S3	cervix
24	chr11:64948000-64948800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:64948000-64948800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr11:64948000-64948800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr11:64948000-64948800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr11:64948000-64948800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr11:64948000-64948800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:64948000-64948800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:64948000-64948800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr11:64948000-64948800	Flanking Active TSS	Fetal Brain Female	brain
33	chr11:64948000-64948800	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr11:64948000-64948800	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr11:64948000-64948800	Flanking Active TSS	Right Ventricle	heart
36	chr11:64948000-64948800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr11:64948000-64948800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr11:64948000-64949600	Active TSS	Colonic Mucosa	Colon
39	chr11:64948000-64949800	Active TSS	Brain Cingulate Gyrus	brain
40	chr11:64948000-64949800	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr11:64948000-64949800	Active TSS	Fetal Heart	heart
42	chr11:64948000-64949800	Active TSS	Osteobl	bone
43	chr11:64948000-64950000	Active TSS	Brain Anterior Caudate	brain
44	chr11:64948000-64950000	Active TSS	Brain Hippocampus Middle	brain
45	chr11:64948000-64950000	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr11:64948000-64950000	Active TSS	Esophagus	oesophagus
47	chr11:64948000-64950000	Active TSS	Left Ventricle	heart
48	chr11:64948000-64950000	Active TSS	Pancreas	Pancrea
49	chr11:64948000-64950200	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:64948000-64950200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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