Variant report

Variant	rs67808744
Chromosome Location	chr11:64576598-64576599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64576433-64576830	HepG2	liver:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64575827..64578000-chr11:64862581..64864116,2	MCF-7	breast:
2	chr11:64575575..64578460-chr11:64644399..64646025,3	MCF-7	breast:
3	chr11:64563150..64565307-chr11:64574970..64577233,2	K562	blood:
4	chr11:64575180..64578002-chr11:65268196..65269989,2	K562	blood:
5	chr11:64561801..64564643-chr11:64576528..64579219,3	MCF-7	breast:
6	chr11:64574843..64581404-chr11:64607394..64613763,11	MCF-7	breast:
7	chr11:64575754..64580490-chr11:64608432..64614008,12	MCF-7	breast:
8	chr11:64544159..64547610-chr11:64575495..64579776,5	K562	blood:
9	chr11:64576171..64577723-chr11:64862076..64864816,2	K562	blood:
10	chr11:64526958..64529001-chr11:64574985..64577155,2	MCF-7	breast:
11	chr11:64576576..64578082-chr11:65296223..65299192,2	MCF-7	breast:
12	chr11:64574624..64577319-chr11:64601791..64604479,3	MCF-7	breast:
13	chr11:64543661..64548104-chr11:64572931..64579605,12	MCF-7	breast:
14	chr11:64556435..64558836-chr11:64573959..64576941,2	MCF-7	breast:
15	chr11:64576531..64579028-chr11:64877071..64879656,2	MCF-7	breast:
16	chr11:64575458..64578440-chr11:64655373..64657012,2	MCF-7	breast:

No data

Variant related genes	Relation type
MEN1	TF binding region
ENSG00000168067	Chromatin interaction
ENSG00000068976	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000142186	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000269038	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1143937	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1633462	0.82[AMR][1000 genomes]
rs487105	0.82[AMR][1000 genomes]
rs509606	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559566	0.84[ASN][1000 genomes]
rs593394	0.82[AMR][1000 genomes]
rs600347	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs624975	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs669976	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs674297	0.81[AMR][1000 genomes]
rs677298	0.94[AMR][1000 genomes]
rs684720	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
4	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
5	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' 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	1071 gene(s)	inside rSNPs	diseases
8	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
11	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
12	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
13	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
14	nsv897702	chr11:64532579-64584231	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
15	nsv519478	chr11:64546391-64584987	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 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	chr11:64571400-64577000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:64571600-64576600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:64571800-64576600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:64571800-64576600	Weak transcription	GM12878-XiMat	blood
5	chr11:64571800-64576800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:64571800-64576800	Weak transcription	Psoas Muscle	Psoas
7	chr11:64571800-64576800	Weak transcription	HUVEC	blood vessel
8	chr11:64571800-64576800	Weak transcription	NH-A	brain
9	chr11:64571800-64577000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:64571800-64577000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:64571800-64577000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:64571800-64577000	Weak transcription	HSMMtube	muscle
13	chr11:64572000-64576600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:64572000-64576800	Strong transcription	Fetal Intestine Small	intestine
15	chr11:64572000-64577000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:64572000-64577000	Weak transcription	Small Intestine	intestine
17	chr11:64572000-64577400	Weak transcription	Aorta	Aorta
18	chr11:64572200-64576600	Strong transcription	Fetal Muscle Leg	muscle
19	chr11:64572200-64576800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:64572200-64576800	Genic enhancers	Dnd41	blood
21	chr11:64572200-64576800	Weak transcription	HMEC	breast
22	chr11:64572400-64576800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:64572400-64576800	Weak transcription	Fetal Heart	heart
24	chr11:64572600-64576600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:64572800-64576600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:64572800-64576800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:64572800-64576800	Strong transcription	Placenta	Placenta
28	chr11:64573200-64576800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr11:64573400-64576600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:64573400-64576800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:64573400-64576800	Weak transcription	A549	lung
32	chr11:64573600-64576800	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:64573800-64576800	Weak transcription	Left Ventricle	heart
34	chr11:64573800-64576800	Weak transcription	HSMM	muscle
35	chr11:64573800-64577000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:64574000-64576800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:64574000-64576800	Weak transcription	Stomach Mucosa	stomach
38	chr11:64574200-64576800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:64574200-64576800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:64574400-64576800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:64574600-64576800	Weak transcription	NHLF	lung
42	chr11:64574800-64576600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr11:64575000-64576600	Weak transcription	HepG2	liver
44	chr11:64575000-64576800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:64575200-64576800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr11:64575200-64576800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:64575200-64576800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:64575200-64576800	Weak transcription	Lung	lung
49	chr11:64575200-64576800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:64575200-64577000	Weak transcription	NHDF-Ad	bronchial

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