Variant report

Variant	rs377007940
Chromosome Location	chr11:65601638-65601639
allele	A/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	SIN3A	chr11:65600553-65601657	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr11:65600708-65601737	SK-N-SH	brain:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
3	MAX	chr11:65600932-65601806	GM12878	blood:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
4	E2F6	chr11:65600516-65601807	H1-hESC	embryonic stem cell:	n/a	chr11:65601066-65601081 chr11:65601068-65601076 chr11:65601065-65601076 chr11:65601087-65601096 chr11:65601069-65601076 chr11:65601068-65601077 chr11:65601065-65601076 chr11:65601065-65601076 chr11:65601066-65601077 chr11:65601067-65601077
5	SP1	chr11:65600923-65601840	GM12878	blood:	n/a	chr11:65601342-65601363 chr11:65601112-65601126
6	MXI1	chr11:65600246-65602155	IMR90	lung:	n/a	n/a
7	PBX3	chr11:65601039-65601690	SK-N-SH	brain:	n/a	chr11:65601299-65601319
8	MAX	chr11:65601054-65601643	ECC-1	luminal epithelium:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
9	POLR2A	chr11:65600675-65601733	GM12892	blood:	n/a	n/a
10	RUNX3	chr11:65601033-65601855	GM12878	blood:	n/a	n/a
11	NFYB	chr11:65600808-65601769	K562	blood:	n/a	n/a
12	MAX	chr11:65600609-65601721	H1-hESC	embryonic stem cell:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
13	POLR2A	chr11:65600483-65602602	HUVEC	blood vessel:	n/a	n/a
14	RCOR1	chr11:65601257-65601662	GM12878	blood:	n/a	n/a
15	PBX3	chr11:65600803-65601696	SK-N-SH	brain:	n/a	chr11:65601299-65601319
16	SP1	chr11:65600910-65601657	H1-hESC	embryonic stem cell:	n/a	chr11:65601342-65601363 chr11:65601112-65601126
17	NFYB	chr11:65600963-65601817	GM12878	blood:	n/a	n/a
18	MAX	chr11:65600711-65601940	H1-hESC	embryonic stem cell:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
19	POLR2A	chr11:65600602-65601737	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:65600595-65601820	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr11:65600795-65602332	H1-neurons	neurons:	n/a	n/a
22	MXI1	chr11:65600344-65602533	SK-N-SH	brain:	n/a	n/a
23	MXI1	chr11:65600840-65601739	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAZ	chr11:65600729-65602192	IMR90	lung:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
25	RUNX3	chr11:65600864-65601987	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:65600913-65601837	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr11:65600834-65601966	Raji	blood:	n/a	n/a
28	E2F6	chr11:65600597-65601696	H1-hESC	embryonic stem cell:	n/a	chr11:65601066-65601081 chr11:65601068-65601076 chr11:65601065-65601076 chr11:65601087-65601096 chr11:65601069-65601076 chr11:65601068-65601077 chr11:65601065-65601076 chr11:65601065-65601076 chr11:65601066-65601077 chr11:65601067-65601077
29	MAX	chr11:65600781-65601758	SK-N-SH	brain:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
30	POLR2A	chr11:65600460-65601642	H1-hESC	embryonic stem cell:	n/a	n/a
31	FOS	chr11:65601091-65601668	GM12878	blood:	n/a	n/a
32	BACH1	chr11:65601104-65601729	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr11:65600766-65602175	H1-neurons	neurons:	n/a	n/a
34	ELF1	chr11:65600638-65601738	GM12878	blood:	n/a	chr11:65601505-65601517
35	MAX	chr11:65601050-65601665	ECC-1	luminal epithelium:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
36	MTA3	chr11:65600398-65602155	GM12878	blood:	n/a	n/a
37	PML	chr11:65600878-65601720	GM12878	blood:	n/a	n/a
38	MYC	chr11:65601614-65601685	GM12878	blood:	n/a	n/a
39	NR2C2	chr11:65601557-65602552	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65601147..65603673-chr11:65623876..65625928,3	MCF-7	breast:
2	chr11:65599027..65600852-chr11:65601394..65604291,2	K562	blood:
3	chr11:65599682..65601863-chr11:65818746..65820444,2	K562	blood:

Variant related genes	Relation type
CFL1	TF binding region
ENSG00000087365	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172732	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv3328198	chr11:65600476-65603674	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3364341	chr11:65600476-65603674	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65600200-65601800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
2	chr11:65600200-65602600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:65600400-65601800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:65600400-65601800	Active TSS	Brain Hippocampus Middle	brain
5	chr11:65600400-65601800	Flanking Active TSS	Right Ventricle	heart
6	chr11:65600400-65602000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr11:65600400-65602200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr11:65600400-65602200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:65600400-65602400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr11:65600400-65602400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr11:65600600-65601800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr11:65600600-65601800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr11:65600600-65601800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:65600600-65601800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:65600600-65601800	Active TSS	Fetal Brain Female	brain
16	chr11:65600600-65601800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr11:65600600-65601800	Active TSS	Psoas Muscle	Psoas
18	chr11:65600600-65602000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:65600600-65602000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr11:65600600-65602200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:65600600-65602200	Flanking Active TSS	Colonic Mucosa	Colon
22	chr11:65600600-65602600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:65600800-65601800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr11:65600800-65601800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:65600800-65601800	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr11:65600800-65601800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr11:65600800-65601800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:65600800-65601800	Active TSS	Brain Germinal Matrix	brain
29	chr11:65600800-65601800	Active TSS	Fetal Intestine Small	intestine
30	chr11:65600800-65601800	Active TSS	Ovary	ovary
31	chr11:65600800-65602000	Active TSS	Fetal Intestine Large	intestine
32	chr11:65600800-65602000	Flanking Active TSS	Fetal Thymus	thymus
33	chr11:65600800-65602200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:65600800-65602200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:65600800-65602200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr11:65600800-65602400	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr11:65601000-65601800	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:65601000-65601800	Active TSS	Fetal Stomach	stomach
39	chr11:65601000-65602000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr11:65601200-65601800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:65601400-65601800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:65601400-65601800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr11:65601400-65601800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:65601400-65601800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
45	chr11:65601400-65601800	Enhancers	Small Intestine	intestine
46	chr11:65601400-65601800	Flanking Active TSS	Thymus	Thymus
47	chr11:65601400-65602000	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr11:65601400-65602000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr11:65601400-65602000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr11:65601400-65602000	Flanking Active TSS	Fetal Muscle Trunk	muscle

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