Variant report

Variant	rs61732727
Chromosome Location	chr11:65403666-65403667
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	TRIM28	chr11:65403492-65404078	K562	blood:	n/a	n/a
2	ETS1	chr11:65403601-65404051	K562	blood:	n/a	n/a
3	POLR2A	chr11:65403648-65403920	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:65402901-65403677	GM12878	blood:	n/a	n/a
5	SIN3AK20	chr11:65403594-65403961	K562	blood:	n/a	n/a
6	PML	chr11:65403582-65403982	K562	blood:	n/a	n/a
7	EGR1	chr11:65403407-65404047	K562	blood:	n/a	n/a
8	ZBTB7A	chr11:65403562-65404312	K562	blood:	n/a	n/a
9	GATA1	chr11:65403479-65404240	PBDE	blood:	n/a	chr11:65403844-65403861 chr11:65403843-65403852 chr11:65403843-65403850 chr11:65403842-65403852 chr11:65403843-65403850 chr11:65403843-65403850
10	POLR2A	chr11:65403557-65404079	K562	blood:	n/a	n/a
11	FOSL1	chr11:65403526-65403820	K562	blood:	n/a	chr11:65403575-65403582
12	POLR2A	chr11:65403302-65403855	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:65403459-65403995	K562	blood:	n/a	n/a
14	NR2F2	chr11:65403273-65406510	K562	blood:	n/a	n/a
15	REST	chr11:65403614-65403929	K562	blood:	n/a	n/a
16	MYC	chr11:65403540-65403999	K562	blood:	n/a	n/a
17	POLR2A	chr11:65403312-65404075	K562	blood:	n/a	n/a
18	ZBTB7A	chr11:65403622-65404233	K562	blood:	n/a	n/a
19	POLR2A	chr11:65402594-65403683	GM12892	blood:	n/a	n/a
20	CEBPD	chr11:65403574-65404004	K562	blood:	n/a	n/a
21	EP300	chr11:65403630-65404013	K562	blood:	n/a	n/a
22	GABPA	chr11:65403535-65404055	K562	blood:	n/a	n/a
23	RCOR1	chr11:65403592-65404046	K562	blood:	n/a	n/a
24	CBX3	chr11:65403350-65404046	K562	blood:	n/a	n/a
25	HDAC2	chr11:65403598-65403946	K562	blood:	n/a	chr11:65403842-65403851
26	TAL1	chr11:65403470-65404070	K562	blood:	n/a	chr11:65403843-65403861
27	CCNT2	chr11:65403636-65404043	K562	blood:	n/a	chr11:65403841-65403861
28	POLR2A	chr11:65403216-65404259	K562	blood:	n/a	n/a
29	POLR2A	chr11:65403484-65403987	K562	blood:	n/a	n/a
30	TEAD4	chr11:65403464-65404004	K562	blood:	n/a	n/a
31	MAZ	chr11:65403455-65404067	K562	blood:	n/a	n/a
32	TEAD4	chr11:65403370-65404063	K562	blood:	n/a	n/a
33	GABPA	chr11:65403623-65403968	K562	blood:	n/a	n/a
34	STAT5A	chr11:65403651-65403929	K562	blood:	n/a	n/a
35	HMGN3	chr11:65403640-65404073	K562	blood:	n/a	chr11:65403844-65403851
36	MYC	chr11:65403632-65403926	K562	blood:	n/a	n/a
37	ELF1	chr11:65403618-65404172	K562	blood:	n/a	n/a
38	EGR1	chr11:65403494-65403994	K562	blood:	n/a	n/a
39	BHLHE40	chr11:65403577-65403992	K562	blood:	n/a	n/a
40	CEBPD	chr11:65403469-65404156	K562	blood:	n/a	n/a
41	PML	chr11:65403529-65403976	K562	blood:	n/a	n/a
42	POLR2A	chr11:65403219-65403934	K562	blood:	n/a	n/a
43	NR2F2	chr11:65403489-65404004	K562	blood:	n/a	n/a
44	MAX	chr11:65403474-65404005	K562	blood:	n/a	n/a
45	HDAC2	chr11:65403399-65404025	K562	blood:	n/a	chr11:65403842-65403851
46	E2F6	chr11:65403460-65403853	K562	blood:	n/a	n/a
47	GATA2	chr11:65403589-65404044	K562	blood:	n/a	chr11:65403844-65403861 chr11:65403843-65403852 chr11:65403843-65403850 chr11:65403842-65403852 chr11:65403843-65403850 chr11:65403843-65403850
48	MYC	chr11:65403617-65403935	K562	blood:	n/a	n/a
49	JUND	chr11:65403506-65403975	K562	blood:	n/a	chr11:65403575-65403582
50	MAX	chr11:65403362-65404023	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65380696..65385200-chr11:65403578..65408941,10	MCF-7	breast:
2	chr11:65265497..65267860-chr11:65403489..65405848,3	K562	blood:
3	chr11:65402996..65404560-chr11:65635320..65637558,2	K562	blood:
4	chr11:65324365..65326095-chr11:65402996..65405366,2	K562	blood:
5	chr11:65401684..65404221-chr11:65623185..65625956,3	K562	blood:
6	chr11:65400163..65404871-chr11:65428865..65432129,6	MCF-7	breast:
7	chr11:65342220..65345077-chr11:65403229..65406787,3	K562	blood:
8	chr11:65401684..65407000-chr11:65623220..65627704,6	K562	blood:

Variant related genes	Relation type
SIPA1	TF binding region
MIR4690	TF binding region
ENSG00000168056	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000251562	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1079185	1.00[AMR][1000 genomes]
rs11568297	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823278	1.00[AMR][1000 genomes]
rs11825475	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827943	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4645925	1.00[AMR][1000 genomes]
rs56311201	1.00[AMR][1000 genomes]
rs57096718	1.00[AMR][1000 genomes]
rs58661068	1.00[AMR][1000 genomes]
rs7101552	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7116571	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7118008	0.83[AMR][1000 genomes]
rs7121450	1.00[AMR][1000 genomes]
rs9725	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS 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	999 gene(s)	inside rSNPs	diseases
3	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
4	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
5	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' 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	665 gene(s)	inside rSNPs	diseases
6	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
8	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers 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	107 gene(s)	inside rSNPs	diseases
9	nsv468599	chr11:65335705-65427346	ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
10	nsv555213	chr11:65335705-65427346	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers 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	78 gene(s)	inside rSNPs	diseases
11	nsv897732	chr11:65335705-65427346	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
12	nsv468600	chr11:65335705-65431360	Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
13	nsv555214	chr11:65335705-65431360	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers 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	92 gene(s)	inside rSNPs	diseases
14	nsv897733	chr11:65335705-65431360	Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
15	nsv897734	chr11:65335705-65436888	Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
16	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
17	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
18	nsv897746	chr11:65349756-65427346	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
19	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
20	esv1831135	chr11:65387352-65420872	Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	43 gene(s)	inside rSNPs	diseases
21	nsv897748	chr11:65392695-65466911	Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
22	nsv897749	chr11:65401748-65420760	Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	39 gene(s)	inside rSNPs	diseases
23	nsv897750	chr11:65401748-65421476	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
24	nsv897751	chr11:65401748-65425167	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	39 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	chr11:65384800-65404400	Weak transcription	Fetal Heart	heart
2	chr11:65384800-65404600	Strong transcription	H9 Cell Line	embryonic stem cell
3	chr11:65384800-65404600	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:65384800-65404600	Strong transcription	Thymus	Thymus
5	chr11:65384800-65404800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:65384800-65404800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:65385000-65404200	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr11:65385000-65404200	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:65385000-65404200	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:65385000-65404400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:65385000-65404400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:65385000-65404400	Strong transcription	Fetal Stomach	stomach
13	chr11:65385000-65404600	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr11:65385000-65404600	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:65385000-65404800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:65385000-65405000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:65385000-65405000	Strong transcription	Brain Germinal Matrix	brain
18	chr11:65385000-65405000	Strong transcription	Fetal Brain Female	brain
19	chr11:65385000-65405000	Strong transcription	Fetal Intestine Small	intestine
20	chr11:65385200-65403800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:65385200-65403800	Strong transcription	Placenta	Placenta
22	chr11:65385200-65404200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr11:65385200-65404400	Strong transcription	NHLF	lung
24	chr11:65385200-65404600	Strong transcription	Adipose Nuclei	Adipose
25	chr11:65385200-65404600	Strong transcription	Brain Anterior Caudate	brain
26	chr11:65385200-65404600	Strong transcription	Fetal Intestine Large	intestine
27	chr11:65385200-65404600	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:65385200-65404600	Strong transcription	A549	lung
29	chr11:65385200-65404800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:65385200-65404800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:65385200-65404800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:65385400-65404200	Strong transcription	Fetal Muscle Leg	muscle
33	chr11:65385400-65404400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:65385400-65404600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr11:65385400-65404600	Strong transcription	Fetal Thymus	thymus
36	chr11:65385600-65404600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:65385600-65404800	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr11:65386400-65403800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:65386400-65404400	Strong transcription	GM12878-XiMat	blood
40	chr11:65389600-65404400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:65390400-65404600	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr11:65393800-65403800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr11:65393800-65404400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:65393800-65404400	Weak transcription	Right Atrium	heart
45	chr11:65393800-65404600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:65393800-65404800	Strong transcription	Lung	lung
47	chr11:65394000-65404400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr11:65394000-65404600	Strong transcription	Brain Substantia Nigra	brain
49	chr11:65394000-65404800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr11:65394000-65404800	Strong transcription	Brain Inferior Temporal Lobe	brain

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