Variant report

Variant	rs559211311
Chromosome Location	chr11:59382606-59382607
allele	G/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	CHD2	chr11:59382523-59382832	HepG2	liver:	n/a	n/a
2	GABPA	chr11:59382597-59382851	HepG2	liver:	n/a	n/a
3	RELA	chr11:59382506-59384310	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:59382269-59384201	K562	blood:	n/a	n/a
5	POLR2A	chr11:59382602-59383390	GM10847	blood:	n/a	n/a
6	POLR2A	chr11:59382265-59383538	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:59382102-59382948	GM12891	blood:	n/a	n/a
8	YY1	chr11:59382527-59382934	ECC-1	luminal epithelium:	n/a	chr11:59382683-59382697
9	RFX5	chr11:59382435-59382879	Hela-S3	cervix:	n/a	n/a
10	USF2	chr11:59381860-59382827	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr11:59382454-59384139	Hela-S3	cervix:	n/a	n/a
12	CREB1	chr11:59382593-59384228	GM12878	blood:	n/a	chr11:59383587-59383600
13	MYC	chr11:59382388-59384323	NB4	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
14	MYC	chr11:59381773-59382836	MCF10A-Er-Src	breast:	n/a	n/a
15	ELF1	chr11:59382551-59384345	K562	blood:	n/a	chr11:59382687-59382699
16	ZEB1	chr11:59382438-59383059	GM12878	blood:	n/a	n/a
17	GABPA	chr11:59382476-59383934	MCF-7	breast:	n/a	n/a
18	HCFC1	chr11:59382375-59384474	Hela-S3	cervix:	n/a	n/a
19	EBF1	chr11:59382566-59382834	GM12878	blood:	n/a	n/a
20	ELF1	chr11:59382450-59383632	GM12878	blood:	n/a	chr11:59382687-59382699
21	MYC	chr11:59381776-59384318	K562	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
22	SIN3AK20	chr11:59382455-59382908	H1-hESC	embryonic stem cell:	n/a	n/a
23	GABPA	chr11:59382507-59382903	K562	blood:	n/a	n/a
24	RFX5	chr11:59382116-59384446	SK-N-SH	brain:	n/a	chr11:59383441-59383450 chr11:59383539-59383548 chr11:59383423-59383432
25	MYC	chr11:59382032-59384388	K562	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
26	GABPA	chr11:59382497-59382978	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:59382388-59383399	GM12878	blood:	n/a	n/a
28	YY1	chr11:59382529-59382884	ECC-1	luminal epithelium:	n/a	chr11:59382683-59382697
29	RUNX3	chr11:59382559-59382942	GM12878	blood:	n/a	n/a
30	CHD2	chr11:59382604-59382819	K562	blood:	n/a	n/a
31	ELF1	chr11:59382486-59384312	GM12878	blood:	n/a	chr11:59382687-59382699
32	MAX	chr11:59382276-59384312	HepG2	liver:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
33	CHD1	chr11:59382474-59382715	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:59382448-59382898	K562	blood:	n/a	n/a
35	SREBP1	chr11:59382112-59385589	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:59381287-59384402	GM12891	blood:	n/a	n/a
37	POLR2A	chr11:59382129-59384401	K562	blood:	n/a	n/a
38	PML	chr11:59382043-59384425	GM12878	blood:	n/a	n/a
39	HCFC1	chr11:59382401-59384356	K562	blood:	n/a	n/a
40	POLR2A	chr11:59382573-59384261	HEK293	kidney:	n/a	n/a
41	GABPA	chr11:59382421-59383788	K562	blood:	n/a	n/a
42	POLR2A	chr11:59382576-59383364	K562	blood:	n/a	n/a
43	JUND	chr11:59382477-59382895	A549	lung:	n/a	n/a
44	GABPA	chr11:59382597-59382905	GM12878	blood:	n/a	n/a
45	NR2C2	chr11:59382204-59383609	Hela-S3	cervix:	n/a	chr11:59382758-59382767
46	MAX	chr11:59382045-59384383	K562	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
47	JUN	chr11:59381851-59384464	K562	blood:	n/a	chr11:59382373-59382382 chr11:59381962-59381972 chr11:59381962-59381972 chr11:59381963-59381972 chr11:59383442-59383451 chr11:59383245-59383254 chr11:59381962-59381972
48	POLR2A	chr11:59382200-59384325	K562	blood:	n/a	n/a
49	EP300	chr11:59382397-59382825	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:59382081-59384393	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:59380013..59385486-chr11:59434648..59438262,9	MCF-7	breast:
2	chr11:59382346..59384021-chr11:59576839..59579644,2	K562	blood:
3	chr11:59381725..59384642-chr11:59521273..59522941,2	K562	blood:
4	chr11:59379146..59381021-chr11:59381463..59383297,2	MCF-7	breast:
5	chr11:59380994..59383091-chr11:59446545..59448432,2	K562	blood:
6	chr11:59373266..59379105-chr11:59379660..59383510,5	MCF-7	breast:
7	chr11:59379597..59385439-chr11:59434812..59438230,12	K562	blood:
8	chr11:59369187..59371019-chr11:59381585..59383481,2	MCF-7	breast:
9	chr11:59381899..59384726-chr11:59386703..59391439,4	MCF-7	breast:
10	chr11:59332034..59337600-chr11:59380778..59383923,5	K562	blood:
11	chr11:59381028..59383632-chr11:59387004..59389826,3	K562	blood:
12	chr11:59357778..59359857-chr11:59379899..59383236,3	K562	blood:
13	chr11:59322188..59323808-chr11:59380792..59382700,2	K562	blood:
14	chr11:59367319..59373347-chr11:59375671..59384148,16	K562	blood:
15	chr1:23670573..23671130-chr11:59382477..59382982,2	Hela-S3	cervix:
16	chr11:59381143..59385193-chr11:59434975..59438411,10	K562	blood:
17	chr11:59367491..59370423-chr11:59380896..59384148,4	K562	blood:
18	chr11:59327475..59330060-chr11:59381628..59383602,2	K562	blood:
19	chr11:59364283..59366462-chr11:59380493..59382759,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255139	TF binding region
ENSG00000254477	Chromatin interaction
ENSG00000255139	Chromatin interaction
ENSG00000255008	Chromatin interaction
ENSG00000166902	Chromatin interaction
ENSG00000110048	Chromatin interaction
ENSG00000125944	Chromatin interaction
ENSG00000255355	Chromatin interaction
ENSG00000166889	Chromatin interaction
ENSG00000166900	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	esv1833978	chr11:59377543-59383631	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1842135	chr11:59377543-59383631	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3356175	chr11:59382001-59384549	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv1795788	chr11:59382306-59383787	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1803734	chr11:59382306-59383787	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv555148	chr11:59382306-59383823	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59380000-59384400	Active TSS	Psoas Muscle	Psoas
2	chr11:59380600-59384400	Active TSS	Fetal Muscle Trunk	muscle
3	chr11:59381200-59382800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:59381200-59382800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr11:59381400-59384400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:59381400-59384400	Active TSS	Aorta	Aorta
7	chr11:59381400-59384400	Active TSS	Ovary	ovary
8	chr11:59381400-59384600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:59381600-59382800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr11:59381600-59382800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr11:59381600-59384000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:59381600-59384400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr11:59381600-59384400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:59381800-59382800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:59381800-59382800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr11:59381800-59382800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:59381800-59382800	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr11:59381800-59384000	Active TSS	GM12878-XiMat	blood
19	chr11:59381800-59384000	Active TSS	K562	blood
20	chr11:59381800-59384000	Active TSS	NHDF-Ad	bronchial
21	chr11:59381800-59384200	Active TSS	Fetal Intestine Small	intestine
22	chr11:59381800-59384400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr11:59381800-59384400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr11:59381800-59384400	Active TSS	Left Ventricle	heart
25	chr11:59382000-59382800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr11:59382000-59382800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr11:59382000-59382800	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr11:59382000-59382800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr11:59382000-59382800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr11:59382000-59382800	Active TSS	Stomach Mucosa	stomach
31	chr11:59382000-59383400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:59382000-59384000	Active TSS	HMEC	breast
33	chr11:59382000-59384000	Active TSS	HSMMtube	muscle
34	chr11:59382000-59384200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:59382000-59384200	Active TSS	Pancreas	Pancrea
36	chr11:59382000-59384400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr11:59382000-59384400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:59382000-59384400	Active TSS	Esophagus	oesophagus
39	chr11:59382200-59382800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:59382200-59382800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:59382200-59383200	Active TSS	Gastric	stomach
42	chr11:59382200-59383400	Active TSS	Placenta Amnion	Placenta Amnion
43	chr11:59382200-59384000	Active TSS	Muscle Satellite Cultured Cells	--
44	chr11:59382200-59384200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:59382200-59384400	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr11:59382200-59384400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:59382200-59384400	Active TSS	Lung	lung
48	chr11:59382200-59384400	Active TSS	Small Intestine	intestine
49	chr11:59382200-59384600	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr11:59382200-59384800	Active TSS	A549	lung

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