Variant report

Variant	rs541191141
Chromosome Location	chr11:65640607-65640608
allele	A/G
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	chr11:65640584-65641659	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr11:65640325-65641585	U87	brain:	n/a	n/a
3	STAT5A	chr11:65640480-65641110	GM12878	blood:	n/a	n/a
4	JUN	chr11:65640385-65641486	K562	blood:	n/a	n/a
5	POLR2A	chr11:65640261-65641434	K562	blood:	n/a	n/a
6	SREBP2	chr11:65640337-65641826	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:65640023-65641431	HUVEC	blood vessel:	n/a	n/a
8	MXI1	chr11:65639380-65641544	SK-N-SH	brain:	n/a	chr11:65641273-65641282
9	HCFC1	chr11:65640375-65641466	Hela-S3	cervix:	n/a	n/a
10	MTA3	chr11:65640445-65641603	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:65640363-65641475	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr11:65640092-65641466	U87	brain:	n/a	n/a
13	POLR2A	chr11:65640424-65641502	H1-neurons	neurons:	n/a	n/a
14	TCF12	chr11:65640564-65641480	A549	lung:	n/a	chr11:65640832-65640842
15	CTCF	chr11:65640520-65640670	AG09319	gingival:	n/a	n/a
16	POLR2A	chr11:65639629-65641407	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr11:65640497-65641490	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr11:65640429-65641603	GM12878	blood:	n/a	n/a
19	ZBTB7A	chr11:65640058-65641488	ECC-1	luminal epithelium:	n/a	chr11:65640518-65640526 chr11:65640517-65640525
20	POLR2A	chr11:65640317-65641520	H1-neurons	neurons:	n/a	n/a
21	ZBTB7A	chr11:65640217-65641427	K562	blood:	n/a	chr11:65640518-65640526 chr11:65640517-65640525
22	POLR2A	chr11:65640538-65641429	K562	blood:	n/a	n/a
23	POLR2A	chr11:65640605-65641444	HepG2	liver:	n/a	n/a
24	MXI1	chr11:65639061-65641539	IMR90	lung:	n/a	chr11:65641273-65641282
25	POLR2A	chr11:65640325-65641450	U87	brain:	n/a	n/a
26	MAZ	chr11:65638665-65641701	IMR90	lung:	n/a	chr11:65639908-65639918 chr11:65640385-65640395 chr11:65640115-65640124
27	SIN3AK20	chr11:65640570-65641685	MCF-7	breast:	n/a	n/a
28	POLR2A	chr11:65640268-65641466	U87	brain:	n/a	n/a
29	POLR2A	chr11:65640564-65641616	GM12892	blood:	n/a	n/a
30	ELF1	chr11:65640566-65641513	GM12878	blood:	n/a	chr11:65641078-65641087
31	POLR2A	chr11:65638861-65641499	ProgFib	skin:	n/a	n/a
32	NR2F2	chr11:65640474-65641540	K562	blood:	n/a	n/a
33	PML	chr11:65640503-65641517	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:65640554-65641580	K562	blood:	n/a	n/a
35	GABPA	chr11:65640592-65641362	SK-N-SH	brain:	n/a	n/a
36	ZBTB7A	chr11:65640035-65641482	ECC-1	luminal epithelium:	n/a	chr11:65640518-65640526 chr11:65640517-65640525
37	POLR2A	chr11:65640286-65641464	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr11:65639349-65641488	HUVEC	blood vessel:	n/a	n/a

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:
6	chr11:65478490..65481819-chr11:65637441..65641209,4	K562	blood:
7	chr11:65638377..65641229-chr11:65727913..65730693,2	MCF-7	breast:

Variant related genes	Relation type
EFEMP2	TF binding region
ENSG00000175827	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000104522	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000175467	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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

No data

Chromatin state (count:127 , 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	chr11:65639400-65640800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:65639400-65641000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr11:65639400-65641400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:65639400-65641400	Active TSS	Aorta	Aorta
6	chr11:65639400-65641400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr11:65639400-65641400	Active TSS	Fetal Kidney	kidney
8	chr11:65639400-65641600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:65639400-65641600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:65639400-65641600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:65639400-65641600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:65639400-65641600	Active TSS	Brain Angular Gyrus	brain
13	chr11:65639400-65641600	Active TSS	Right Atrium	heart
14	chr11:65639400-65641600	Active TSS	HSMM	muscle
15	chr11:65639400-65641600	Active TSS	NHDF-Ad	bronchial
16	chr11:65639600-65641000	Active TSS	Fetal Heart	heart
17	chr11:65639600-65641200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:65639600-65641200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr11:65639600-65641200	Active TSS	Brain Hippocampus Middle	brain
20	chr11:65639600-65641200	Active TSS	Esophagus	oesophagus
21	chr11:65639600-65641200	Active TSS	Fetal Stomach	stomach
22	chr11:65639600-65641200	Active TSS	Placenta Amnion	Placenta Amnion
23	chr11:65639600-65641400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:65639600-65641400	Active TSS	Gastric	stomach
25	chr11:65639600-65641600	Active TSS	H9 Cell Line	embryonic stem cell
26	chr11:65639600-65641600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr11:65639600-65641600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:65639600-65641600	Active TSS	Colon Smooth Muscle	Colon
29	chr11:65639600-65641600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr11:65639600-65641600	Active TSS	Left Ventricle	heart
31	chr11:65639600-65641600	Active TSS	Ovary	ovary
32	chr11:65639600-65641800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:65639800-65640800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:65639800-65640800	Weak transcription	Spleen	Spleen
35	chr11:65639800-65641000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
36	chr11:65639800-65641200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:65639800-65641200	Active TSS	HSMMtube	muscle
38	chr11:65639800-65641400	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr11:65639800-65641400	Active TSS	Lung	lung
40	chr11:65639800-65641400	Active TSS	Right Ventricle	heart
41	chr11:65639800-65641400	Active TSS	Small Intestine	intestine
42	chr11:65639800-65641600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:65639800-65641600	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr11:65639800-65641600	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr11:65639800-65641600	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr11:65639800-65641600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:65639800-65641600	Active TSS	Psoas Muscle	Psoas
48	chr11:65640000-65641000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:65640000-65641400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:65640000-65641600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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