Variant report

Variant	rs1864651
Chromosome Location	chr11:72532569-72532570
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	POLR2A	chr11:72532544-72533670	HEK293	kidney:	n/a	n/a
2	MAX	chr11:72532541-72533940	MCF-7	breast:	n/a	chr11:72532853-72532863 chr11:72532794-72532804
3	ZBTB7A	chr11:72532510-72533044	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr11:72531476-72538712	GM12878	blood:	n/a	n/a
5	EGR1	chr11:72532548-72532955	ECC-1	luminal epithelium:	n/a	chr11:72532795-72532808 chr11:72532795-72532808 chr11:72532795-72532808 chr11:72532798-72532807 chr11:72532814-72532824 chr11:72532795-72532809 chr11:72532852-72532862 chr11:72532795-72532808 chr11:72532794-72532809 chr11:72532798-72532808
6	SMARCB1	chr11:72532223-72533731	Hela-S3	cervix:	n/a	n/a
7	MAX	chr11:72532471-72534016	HCT-116	colon:	n/a	chr11:72532853-72532863 chr11:72532794-72532804
8	POLR2A	chr11:72532564-72533749	A549	lung:	n/a	n/a
9	MAX	chr11:72532188-72533928	H1-hESC	embryonic stem cell:	n/a	chr11:72532853-72532863 chr11:72532794-72532804
10	POLR2A	chr11:72531655-72533182	HL-60	blood:	n/a	n/a
11	POLR2A	chr11:72531526-72538707	GM12892	blood:	n/a	n/a
12	MAX	chr11:72532458-72533932	ECC-1	luminal epithelium:	n/a	chr11:72532853-72532863 chr11:72532794-72532804
13	POLR2A	chr11:72531677-72538557	GM18505	blood:	n/a	n/a
14	EGR1	chr11:72532519-72533013	ECC-1	luminal epithelium:	n/a	chr11:72532795-72532808 chr11:72532795-72532808 chr11:72532795-72532808 chr11:72532798-72532807 chr11:72532814-72532824 chr11:72532795-72532809 chr11:72532852-72532862 chr11:72532795-72532808 chr11:72532794-72532809 chr11:72532798-72532808
15	MAX	chr11:72532513-72533941	H1-hESC	embryonic stem cell:	n/a	chr11:72532853-72532863 chr11:72532794-72532804
16	POLR2A	chr11:72532115-72534355	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr11:72531780-72532602	GM12891	blood:	n/a	n/a
18	POLR2A	chr11:72531710-72538560	GM19193	blood:	n/a	n/a
19	POLR2A	chr11:72531858-72532793	GM12878	blood:	n/a	n/a
20	TCF12	chr11:72532496-72533702	ECC-1	luminal epithelium:	n/a	chr11:72533426-72533436
21	POLR2A	chr11:72532209-72536036	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr11:72532540-72532690	NHEK	skin:	n/a	n/a
23	CTCF	chr11:72532520-72532670	GM12866	blood:	n/a	n/a
24	POLR2A	chr11:72532541-72533500	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr11:72531772-72534846	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:72531477-72538223	GM12891	blood:	n/a	n/a
27	MAX	chr11:72532532-72534041	ECC-1	luminal epithelium:	n/a	chr11:72532853-72532863 chr11:72534013-72534024 chr11:72532794-72532804
28	POLR2A	chr11:72532323-72533691	MCF-7	breast:	n/a	n/a
29	CTBP2	chr11:72532166-72533800	H1-hESC	embryonic stem cell:	n/a	n/a
30	STAT5A	chr11:72532468-72536448	GM12878	blood:	n/a	chr11:72533835-72533847 chr11:72535911-72535923
31	E2F6	chr11:72532252-72533939	H1-hESC	embryonic stem cell:	n/a	chr11:72532852-72532861 chr11:72533349-72533359 chr11:72532794-72532803 chr11:72532608-72532617 chr11:72532800-72532812 chr11:72533627-72533639 chr11:72533432-72533442
32	POLR2A	chr11:72532412-72534883	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:72531499-72538634	GM12892	blood:	n/a	n/a
34	MAX	chr11:72532507-72533965	HCT-116	colon:	n/a	chr11:72532853-72532863 chr11:72532794-72532804
35	POLR2A	chr11:72531503-72532605	GM12892	blood:	n/a	n/a
36	POLR2A	chr11:72531557-72533865	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:72532555-72532605	SK-N-SH	brain:	n/a
2	chr11:72532555-72532605	H1-hESC	embryonic stem cell:	embryo
3	chr11:72532555-72532605	Hela-S3	cervix:	n/a
4	chr11:72532555-72532605	NHDF-neo	bronchial:	n/a
5	chr11:72532555-72532605	HMEC	breast:	n/a
6	chr11:72532555-72532605	AG10803	skin:	n/a
7	chr11:72532555-72532605	GM12892	blood:	n/a
8	chr11:72532555-72532605	HPAEpiC	pulmonary alveolar:	n/a
9	chr11:72532555-72532605	AoSMC	blood vessel:	n/a
10	chr11:72532555-72532605	NB4	blood:	n/a
11	chr11:72532555-72532605	SKMC	muscle:	n/a
12	chr11:72532555-72532605	HRCEpiC	kidney:	n/a
13	chr11:72532555-72532605	ECC-1	luminal epithelium:	n/a
14	chr11:72532555-72532605	Caco-2	colon:	n/a
15	chr11:72532555-72532605	SK-N-MC	brain:	n/a
16	chr11:72532555-72532605	LNCaP	prostate:	n/a
17	chr11:72532555-72532605	AG09319	gingival:	n/a
18	chr11:72532555-72532605	GM12878	blood:	n/a
19	chr11:72532555-72532605	AG04450	lung:	fetal
20	chr11:72532555-72532605	HCT-116	colon:	n/a
21	chr11:72532555-72532605	IMR90	lung:	fetal
22	chr11:72532555-72532605	ProgFib	skin:	n/a
23	chr11:72532555-72532605	SK-N-SH_RA	brain:	n/a
24	chr11:72532555-72532605	MCF-7	breast:	n/a
25	chr11:72532555-72532605	HUVEC	blood vessel:	n/a
26	chr11:72532555-72532605	AG04449	skin:	fetal
27	chr11:72532555-72532605	K562	blood:	n/a
28	chr11:72532555-72532605	HepG2	liver:	n/a
29	chr11:72532555-72532605	A549	lung:	n/a
30	chr11:72532555-72532605	ovcar-3	ovarian:	n/a
31	chr11:72532555-72532605	HCM	heart:	n/a
32	chr11:72532555-72532605	Hepatocyte	liver:	n/a
33	chr11:72532555-72532605	NHBE	bronchial:	n/a
34	chr11:72532555-72532605	HRE	kidney:	n/a
35	chr11:72532555-72532605	AG09309	skin:	n/a
36	chr11:72532555-72532605	CMK	blood:	n/a
37	chr11:72532555-72532605	GM12891	blood:	n/a
38	chr11:72532555-72532605	HEEpiC	esophagus:	n/a
39	chr11:72532555-72532605	PrEC	prostate:	n/a
40	chr11:72532555-72532605	HIPEpiC	eye:	n/a
41	chr11:72532555-72532605	BJ	skin:	n/a
42	chr11:72532555-72532605	HCPEpiC	choroid plexus:	n/a
43	chr11:72532555-72532605	RPTEC	kidney:	n/a
44	chr11:72532555-72532605	HRPEpiC	eye:	n/a
45	chr11:72532555-72532605	MCF10A-Er-Src	breast:	n/a
46	chr11:72532555-72532605	PFSK-1	brain:	n/a
47	chr11:72532555-72532605	GM19239	blood:	n/a
48	chr11:72532555-72532605	Jurkat	blood:	n/a
49	chr11:72532555-72532605	HAEpiC	amniotic membrane:	n/a
50	chr11:72532555-72532605	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72390946..72393095-chr11:72530175..72532739,2	K562	blood:
2	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
3	chr11:72531883..72535504-chr11:72851629..72853807,3	MCF-7	breast:
4	chr11:72490888..72493672-chr11:72531359..72534461,3	MCF-7	breast:
5	chr11:72532014..72534900-chr11:72852286..72855205,3	K562	blood:

Variant related genes	Relation type
ATG16L2	TF binding region
ATG16L2	CpG island
ENSG00000214530	Chromatin interaction
ENSG00000186635	Chromatin interaction
ENSG00000137478	Chromatin interaction
ENSG00000265064	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11235608	0.89[AFR][1000 genomes]
rs4944814	0.82[AFR][1000 genomes]
rs6592494	0.82[AFR][1000 genomes]
rs7120156	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7395081	0.89[AFR][1000 genomes]
rs891655	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72526200-72532800	Weak transcription	Aorta	Aorta
2	chr11:72526400-72532800	Weak transcription	Fetal Kidney	kidney
3	chr11:72526600-72532600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:72527600-72532600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:72527800-72532800	Weak transcription	HSMMtube	muscle
6	chr11:72528000-72532600	Weak transcription	HSMM	muscle
7	chr11:72528800-72532600	Strong transcription	Thymus	Thymus
8	chr11:72528800-72533800	Genic enhancers	Monocytes-CD14+_RO01746	blood
9	chr11:72528800-72534400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
10	chr11:72528800-72542800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:72529000-72543600	Strong transcription	Dnd41	blood
12	chr11:72529800-72532600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:72530600-72532600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:72531400-72532800	Genic enhancers	Primary B cells from cord blood	blood
15	chr11:72531400-72532800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
16	chr11:72531600-72532600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr11:72531600-72532600	Genic enhancers	Duodenum Mucosa	Duodenum
18	chr11:72531600-72532800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:72531600-72532800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:72531600-72533400	Genic enhancers	Primary T cells fromperipheralblood	blood
21	chr11:72531600-72534000	Genic enhancers	Spleen	Spleen
22	chr11:72531600-72534400	Enhancers	Fetal Heart	heart
23	chr11:72531600-72534600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:72531600-72535800	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr11:72531800-72532600	Genic enhancers	Primary T cells from cord blood	blood
26	chr11:72531800-72532600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr11:72531800-72532600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr11:72531800-72532600	Enhancers	Placenta	Placenta
29	chr11:72531800-72532600	Enhancers	Left Ventricle	heart
30	chr11:72531800-72532600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr11:72531800-72532600	Enhancers	Right Ventricle	heart
32	chr11:72531800-72532600	Genic enhancers	GM12878-XiMat	blood
33	chr11:72531800-72532600	Enhancers	HMEC	breast
34	chr11:72531800-72532800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
35	chr11:72531800-72533000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:72531800-72533000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:72531800-72533200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:72531800-72533200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:72531800-72533200	Flanking Active TSS	NHEK	skin
40	chr11:72531800-72533400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr11:72531800-72533600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:72531800-72534000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:72532000-72532600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:72532000-72532600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:72532000-72532600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr11:72532000-72532600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr11:72532000-72532600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:72532000-72532600	Enhancers	Fetal Stomach	stomach
49	chr11:72532000-72532600	Enhancers	Ovary	ovary
50	chr11:72532000-72532600	Enhancers	Pancreas	Pancrea

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