Variant report

Variant	rs370913748
Chromosome Location	chr11:65641555-65641556
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65640584-65641659	PFSK-1	brain:	n/a	n/a
2	GTF3C2	chr11:65641400-65641981	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:65640325-65641585	U87	brain:	n/a	n/a
4	SREBP2	chr11:65640337-65641826	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:65640703-65641581	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:65640618-65641603	GM12878	blood:	n/a	n/a
7	PAX5	chr11:65641499-65641723	GM12878	blood:	n/a	n/a
8	MTA3	chr11:65640445-65641603	GM12878	blood:	n/a	n/a
9	TBP	chr11:65641051-65641557	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:65640429-65641603	GM12878	blood:	n/a	n/a
11	FOXM1	chr11:65641018-65641590	GM12878	blood:	n/a	n/a
12	TAF1	chr11:65640890-65641700	GM12878	blood:	n/a	n/a
13	MAZ	chr11:65638665-65641701	IMR90	lung:	n/a	chr11:65639908-65639918 chr11:65640385-65640395 chr11:65640115-65640124
14	SIN3AK20	chr11:65640570-65641685	MCF-7	breast:	n/a	n/a
15	POLR2A	chr11:65640564-65641616	GM12892	blood:	n/a	n/a
16	TBP	chr11:65641106-65641573	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:65640554-65641580	K562	blood:	n/a	n/a
18	RPC155	chr11:65641404-65641933	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65640551..65642134-chr11:65685115..65687811,2	MCF-7	breast:
2	chr11:65482061..65486231-chr11:65638918..65641829,3	K562	blood:
3	chr11:65638895..65641565-chr11:65834356..65837225,2	K562	blood:
4	chr11:65547235..65549033-chr11:65639667..65642031,2	K562	blood:
5	chr11:65639484..65641571-chr8:144697740..144699528,2	MCF-7	breast:

No data

Variant related genes	Relation type
EFEMP2	TF binding region
ENSG00000104522	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000175573	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65639200-65641600	Active TSS	Brain Substantia Nigra	brain
2	chr11:65639400-65641600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:65639400-65641600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:65639400-65641600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:65639400-65641600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:65639400-65641600	Active TSS	Brain Angular Gyrus	brain
7	chr11:65639400-65641600	Active TSS	Right Atrium	heart
8	chr11:65639400-65641600	Active TSS	HSMM	muscle
9	chr11:65639400-65641600	Active TSS	NHDF-Ad	bronchial
10	chr11:65639600-65641600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr11:65639600-65641600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:65639600-65641600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:65639600-65641600	Active TSS	Colon Smooth Muscle	Colon
14	chr11:65639600-65641600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr11:65639600-65641600	Active TSS	Left Ventricle	heart
16	chr11:65639600-65641600	Active TSS	Ovary	ovary
17	chr11:65639600-65641800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:65639800-65641600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:65639800-65641600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr11:65639800-65641600	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr11:65639800-65641600	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr11:65639800-65641600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:65639800-65641600	Active TSS	Psoas Muscle	Psoas
24	chr11:65640000-65641600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:65640000-65641600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr11:65640200-65641600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr11:65640200-65641600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:65640400-65641600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr11:65640400-65641600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr11:65640400-65641600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr11:65640400-65641600	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr11:65640400-65641600	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr11:65640400-65641600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr11:65640400-65641600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr11:65640400-65641600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:65640400-65641600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:65640400-65641600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:65640400-65641600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr11:65640400-65641600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr11:65640400-65641600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:65640400-65641600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:65640400-65641600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:65640400-65641600	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr11:65640400-65641600	Flanking Active TSS	Colonic Mucosa	Colon
45	chr11:65640400-65641600	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr11:65640400-65641600	Flanking Active TSS	Placenta	Placenta
47	chr11:65640400-65641600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr11:65640400-65641600	Flanking Active TSS	Dnd41	blood
49	chr11:65640400-65641600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr11:65640400-65641800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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