Variant report

Variant	rs368839015
Chromosome Location	chr11:65642051-65642052
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	SPI1	chr11:65642024-65642166	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65640551..65642134-chr11:65685115..65687811,2	MCF-7	breast:
2	chr11:65642046..65643611-chr7:5563687..5566581,2	K562	blood:

Variant related genes	Relation type
EFEMP2	TF binding region
ENSG00000175573	Chromatin interaction
ENSG00000175550	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers 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 target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897763	chr11:65613348-65644027	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	121 gene(s)	inside rSNPs	diseases
10	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
11	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
12	nsv897766	chr11:65624025-65644027	Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
13	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
14	esv999644	chr11:65636167-65646034	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	esv1797198	chr11:65637273-65642343	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	esv3371600	chr11:65640076-65645374	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	esv3496466	chr11:65640876-65644674	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
18	nsv511466	chr11:65640906-65642441	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
19	esv3326010	chr11:65641201-65644749	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
20	esv3496471	chr11:65641426-65644524	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
21	esv3462186	chr11:65641745-65643871	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
22	esv8148	chr11:65641944-65643739	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
23	esv3462219	chr11:65641996-65643624	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
24	esv3344528	chr11:65642004-65643616	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
25	esv3496468	chr11:65642008-65643635	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
26	esv3496467	chr11:65642022-65643581	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
27	esv3462208	chr11:65642024-65643586	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
28	esv3462197	chr11:65642034-65643589	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
29	esv3496469	chr11:65642035-65643570	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
30	esv4089	chr11:65642039-65643568	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
31	esv3462163	chr11:65642045-65643545	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
32	nsv512233	chr11:65642051-65643520	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65641000-65654400	Weak transcription	Fetal Heart	heart
2	chr11:65641400-65646600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:65641400-65647200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:65641400-65647200	Weak transcription	Esophagus	oesophagus
5	chr11:65641400-65648600	Weak transcription	Spleen	Spleen
6	chr11:65641400-65648600	Weak transcription	HUVEC	blood vessel
7	chr11:65641400-65648800	Weak transcription	HSMMtube	muscle
8	chr11:65641400-65649000	Weak transcription	Right Ventricle	heart
9	chr11:65641400-65649200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:65641400-65649200	Weak transcription	Lung	lung
11	chr11:65641400-65649400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:65641400-65649600	Weak transcription	Gastric	stomach
13	chr11:65641400-65649800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:65641400-65649800	Weak transcription	Osteobl	bone
15	chr11:65641400-65650000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:65641400-65650000	Weak transcription	Aorta	Aorta
17	chr11:65641400-65650000	Weak transcription	A549	lung
18	chr11:65641400-65650400	Weak transcription	Fetal Kidney	kidney
19	chr11:65641400-65650400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:65641400-65650600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:65641400-65651000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:65641400-65654000	Weak transcription	Small Intestine	intestine
23	chr11:65641600-65642200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr11:65641600-65642200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr11:65641600-65642200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr11:65641600-65642200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:65641600-65642200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr11:65641600-65643600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:65641600-65644000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:65641600-65644200	Weak transcription	HepG2	liver
31	chr11:65641600-65644800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:65641600-65645600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:65641600-65646200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr11:65641600-65646200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:65641600-65646600	Weak transcription	Dnd41	blood
36	chr11:65641600-65647200	Weak transcription	Fetal Stomach	stomach
37	chr11:65641600-65647400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:65641600-65648200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:65641600-65648200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:65641600-65648600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:65641600-65648600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr11:65641600-65648600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:65641600-65648800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:65641600-65648800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:65641600-65648800	Weak transcription	Brain Germinal Matrix	brain
46	chr11:65641600-65648800	Weak transcription	Fetal Brain Female	brain
47	chr11:65641600-65648800	Weak transcription	NHEK	skin
48	chr11:65641600-65648800	Weak transcription	NHLF	lung
49	chr11:65641600-65649000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:65641600-65649000	Weak transcription	Placenta	Placenta

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