Variant report

Variant	rs34816453
Chromosome Location	chr11:58873703-58873704
allele	-/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	chr11:58873661-58876172	GM12878	blood:	n/a	n/a
2	E2F6	chr11:58873599-58875557	H1-hESC	embryonic stem cell:	n/a	chr11:58874657-58874666 chr11:58874206-58874213 chr11:58875515-58875522 chr11:58874206-58874213 chr11:58874038-58874045 chr11:58874658-58874665 chr11:58874293-58874300 chr11:58874658-58874665 chr11:58874654-58874666 chr11:58874205-58874214 chr11:58874658-58874665 chr11:58874293-58874300 chr11:58874419-58874434 chr11:58874886-58874896 chr11:58874290-58874305 chr11:58874206-58874213 chr11:58874293-58874300
3	E2F6	chr11:58873623-58874939	H1-hESC	embryonic stem cell:	n/a	chr11:58874657-58874666 chr11:58874206-58874213 chr11:58874206-58874213 chr11:58874038-58874045 chr11:58874658-58874665 chr11:58874293-58874300 chr11:58874658-58874665 chr11:58874654-58874666 chr11:58874205-58874214 chr11:58874658-58874665 chr11:58874293-58874300 chr11:58874419-58874434 chr11:58874886-58874896 chr11:58874290-58874305 chr11:58874206-58874213 chr11:58874293-58874300
4	POLR2A	chr11:58873570-58876202	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:58873546-58876222	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:58873650-58876134	GM12892	blood:	n/a	n/a
7	ZNF263	chr11:58873612-58874845	HEK293-T-REx	kidney:	n/a	chr11:58874251-58874260
8	JUN	chr11:58873665-58873833	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr11:58873643-58875338	A549	lung:	n/a	chr11:58874657-58874666 chr11:58874206-58874213 chr11:58874206-58874213 chr11:58874038-58874045 chr11:58874658-58874665 chr11:58874293-58874300 chr11:58874658-58874665 chr11:58874654-58874666 chr11:58874205-58874214 chr11:58874658-58874665 chr11:58874293-58874300 chr11:58874419-58874434 chr11:58874886-58874896 chr11:58874290-58874305 chr11:58874206-58874213 chr11:58874293-58874300
10	MAX	chr11:58873631-58874842	HepG2	liver:	n/a	chr11:58874545-58874554 chr11:58874546-58874555
11	CTCF	chr11:58873640-58873790	GM12866	blood:	n/a	n/a
12	MAX	chr11:58873683-58874878	H1-hESC	embryonic stem cell:	n/a	chr11:58874545-58874554 chr11:58874546-58874555
13	MAX	chr11:58873650-58874974	A549	lung:	n/a	chr11:58874545-58874554 chr11:58874546-58874555
14	HA-E2F1	chr11:58873663-58875212	MCF-7	breast:	n/a	chr11:58874657-58874666 chr11:58874206-58874213 chr11:58874167-58874178 chr11:58874206-58874213 chr11:58874038-58874045 chr11:58874658-58874665 chr11:58874293-58874300 chr11:58874658-58874665 chr11:58874654-58874666 chr11:58874202-58874213 chr11:58874205-58874214 chr11:58874658-58874665 chr11:58874293-58874300 chr11:58874419-58874434 chr11:58874886-58874896 chr11:58874290-58874305 chr11:58874206-58874213 chr11:58874293-58874300
15	POLR2A	chr11:58873634-58876097	GM12892	blood:	n/a	n/a
16	POLR2A	chr11:58873600-58875815	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr11:58873570-58875019	A549	lung:	n/a	chr11:58874545-58874554 chr11:58874546-58874555
18	TCF12	chr11:58873661-58875127	A549	lung:	n/a	n/a
19	CTCF	chr11:58873700-58873850	HPAF	blood vessel:	n/a	n/a
20	TAF1	chr11:58873659-58874954	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:58873684-58875518	GM12891	blood:	n/a	n/a
22	MAX	chr11:58873644-58874814	H1-hESC	embryonic stem cell:	n/a	chr11:58874545-58874554 chr11:58874546-58874555
23	MTA3	chr11:58873659-58875102	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:58869769..58871706-chr11:58872515..58874019,2	MCF-7	breast:
2	chr11:58869989..58871867-chr11:58872289..58874332,2	MCF-7	breast:
3	chr11:58872425..58874544-chr11:58888169..58890358,2	MCF-7	breast:

Variant related genes	Relation type
FAM111B	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv3393019	chr11:58679419-58880845	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv428258	chr11:58700092-58878839	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv832171	chr11:58725930-58878839	Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv469559	chr11:58730785-58887639	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv482906	chr11:58730785-58887639	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv471671	chr11:58730786-58887639	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv2757447	chr11:58746238-58906018	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv975329	chr11:58767290-58907813	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv430388	chr11:58769524-58925824	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
14	nsv468578	chr11:58790628-58901763	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv555147	chr11:58790628-58901763	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv1043956	chr11:58818144-58882570	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	esv3367089	chr11:58872776-58875774	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58868200-58873800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:58870000-58873800	Weak transcription	Esophagus	oesophagus
3	chr11:58870000-58873800	Weak transcription	Gastric	stomach
4	chr11:58870000-58873800	Weak transcription	Ovary	ovary
5	chr11:58870200-58873800	Weak transcription	HSMMtube	muscle
6	chr11:58873200-58875600	Active TSS	GM12878-XiMat	blood
7	chr11:58873400-58874200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr11:58873400-58874800	Active TSS	Brain Germinal Matrix	brain
9	chr11:58873400-58875600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:58873600-58873800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:58873600-58873800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:58873600-58873800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:58873600-58873800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:58873600-58873800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:58873600-58873800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:58873600-58873800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr11:58873600-58873800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
18	chr11:58873600-58873800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr11:58873600-58873800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr11:58873600-58873800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:58873600-58873800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:58873600-58873800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:58873600-58873800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:58873600-58873800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:58873600-58873800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr11:58873600-58873800	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:58873600-58873800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:58873600-58873800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr11:58873600-58873800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:58873600-58873800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:58873600-58873800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:58873600-58873800	Enhancers	Liver	Liver
33	chr11:58873600-58873800	Enhancers	Colonic Mucosa	Colon
34	chr11:58873600-58873800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
35	chr11:58873600-58873800	Flanking Active TSS	Fetal Brain Female	brain
36	chr11:58873600-58873800	Enhancers	Fetal Intestine Large	intestine
37	chr11:58873600-58873800	Flanking Active TSS	Fetal Kidney	kidney
38	chr11:58873600-58873800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr11:58873600-58873800	Bivalent Enhancer	Placenta	Placenta
40	chr11:58873600-58873800	Enhancers	Fetal Thymus	thymus
41	chr11:58873600-58873800	Bivalent Enhancer	Left Ventricle	heart
42	chr11:58873600-58873800	Enhancers	Lung	lung
43	chr11:58873600-58873800	Enhancers	Pancreas	Pancrea
44	chr11:58873600-58873800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr11:58873600-58873800	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr11:58873600-58873800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr11:58873600-58873800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr11:58873600-58873800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
49	chr11:58873600-58873800	Enhancers	Small Intestine	intestine
50	chr11:58873600-58873800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach

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