Variant report

Variant	rs150722876
Chromosome Location	chr11:66885730-66885731
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	PAX5	chr11:66885146-66885885	GM12892	blood:	n/a	n/a
2	TCF3	chr11:66885670-66886759	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:66885655-66886224	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:66885108-66886634	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:66885710-66885967	GM12891	blood:	n/a	n/a
6	POLR2A	chr11:66885668-66886127	PBDE	blood:	n/a	n/a
7	MAZ	chr11:66885004-66887904	IMR90	lung:	n/a	chr11:66886120-66886129 chr11:66886002-66886011 chr11:66887263-66887273
8	POLR2A	chr11:66884978-66886367	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:66885658-66886256	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:66885239-66886986	GM18526	blood:	n/a	n/a
11	TAF7	chr11:66885684-66886254	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:66885381-66886231	HUVEC	blood vessel:	n/a	n/a
13	TBL1XR1	chr11:66885716-66885886	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:66885650-66886252	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr11:66885535-66887011	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:66885236-66887001	GM12892	blood:	n/a	n/a
17	POU2F2	chr11:66885564-66886073	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:66885165-66887278	GM18505	blood:	n/a	n/a
19	ZBTB7A	chr11:66885551-66885960	ECC-1	luminal epithelium:	n/a	n/a
20	MAZ	chr11:66885269-66887072	GM12878	blood:	n/a	chr11:66886120-66886129 chr11:66886002-66886011
21	MAX	chr11:66885656-66886818	H1-hESC	embryonic stem cell:	n/a	chr11:66886120-66886129 chr11:66886002-66886011
22	EGR1	chr11:66885463-66885812	GM12878	blood:	n/a	n/a
23	SIN3A	chr11:66885690-66887976	H1-hESC	embryonic stem cell:	n/a	chr11:66886856-66886867 chr11:66886721-66886729
24	POLR2A	chr11:66885658-66886247	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr11:66885563-66886939	HEK293	kidney:	n/a	n/a
26	POLR2A	chr11:66885668-66886095	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr11:66885590-66885873	GM12891	blood:	n/a	n/a
28	YY1	chr11:66885721-66886192	H1-hESC	embryonic stem cell:	n/a	chr11:66886062-66886076
29	YY1	chr11:66885605-66886139	GM12891	blood:	n/a	chr11:66886062-66886076
30	TAF1	chr11:66885578-66886216	H1-hESC	embryonic stem cell:	n/a	n/a
31	STAT5A	chr11:66885681-66886166	GM12878	blood:	n/a	chr11:66885854-66885866
32	POLR2A	chr11:66885163-66887241	GM19099	blood:	n/a	n/a
33	BACH1	chr11:66885141-66886766	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr11:66885377-66886246	GM12891	blood:	n/a	n/a
35	POLR2A	chr11:66885589-66886158	GM12892	blood:	n/a	n/a
36	POLR2A	chr11:66885063-66886246	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr11:66885089-66887088	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr11:66885725-66886234	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:66885642-66886240	ProgFib	skin:	n/a	n/a
40	RUNX3	chr11:66885696-66886299	GM12878	blood:	n/a	n/a
41	MTA3	chr11:66885604-66886368	GM12878	blood:	n/a	n/a
42	TBP	chr11:66885658-66886187	H1-hESC	embryonic stem cell:	n/a	n/a
43	YY1	chr11:66885535-66886227	GM12878	blood:	n/a	chr11:66886062-66886076
44	MAX	chr11:66885661-66887109	A549	lung:	n/a	chr11:66886120-66886129 chr11:66886002-66886011
45	YY1	chr11:66885524-66886222	GM12878	blood:	n/a	chr11:66886062-66886076
46	SIN3AK20	chr11:66885550-66886223	PANC-1	pancreas:	n/a	n/a
47	TAF1	chr11:66885631-66886265	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:66885251-66887004	GM15510	blood:	n/a	n/a
49	POLR2A	chr11:66885193-66886962	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:66885679-66886246	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66884866..66886450-chr11:67007040..67008886,2	MCF-7	breast:
2	chr11:66884756..66886465-chr11:66946415..66948664,2	MCF-7	breast:
3	chr11:66885437..66888305-chr11:67055921..67058495,2	MCF-7	breast:
4	chr11:66821625..66825972-chr11:66885437..66888104,7	MCF-7	breast:
5	chr11:66885158..66886682-chr11:67030764..67032501,2	K562	blood:
6	chr11:66885002..66889173-chr11:67005085..67009324,11	K562	blood:
7	chr11:66884916..66890908-chr11:67005112..67010354,8	MCF-7	breast:
8	chr11:66821404..66826403-chr11:66884710..66889541,16	MCF-7	breast:
9	chr11:66883623..66889678-chr11:67005085..67009894,16	K562	blood:
10	chr11:66847793..66850553-chr11:66883657..66886437,2	MCF-7	breast:

Variant related genes	Relation type
KDM2A	TF binding region
ENSG00000173156	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000172932	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv3412807	chr11:66884326-66888124	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3397435	chr11:66884601-66887149	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv3400268	chr11:66884676-66888099	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv3328460	chr11:66884901-66888249	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66881000-66886800	Weak transcription	K562	blood
2	chr11:66883600-66886000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:66884800-66886200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:66884800-66888800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr11:66884800-66889200	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr11:66885000-66885800	Active TSS	Muscle Satellite Cultured Cells	--
7	chr11:66885000-66885800	Enhancers	NHLF	lung
8	chr11:66885000-66886000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:66885000-66886000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr11:66885000-66886200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr11:66885000-66886200	Bivalent/Poised TSS	Thymus	Thymus
12	chr11:66885000-66886800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:66885000-66887200	Weak transcription	Fetal Brain Male	brain
14	chr11:66885000-66888600	Active TSS	Brain Substantia Nigra	brain
15	chr11:66885000-66888800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:66885000-66888800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:66885000-66889000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:66885000-66889000	Active TSS	Lung	lung
19	chr11:66885000-66889000	Active TSS	Osteobl	bone
20	chr11:66885000-66889200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr11:66885000-66889600	Active TSS	Psoas Muscle	Psoas
22	chr11:66885000-66889800	Active TSS	Fetal Brain Female	brain
23	chr11:66885000-66889800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr11:66885200-66885800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr11:66885200-66885800	Active TSS	Rectal Smooth Muscle	rectum
26	chr11:66885200-66885800	Enhancers	HMEC	breast
27	chr11:66885200-66885800	Active TSS	NHEK	skin
28	chr11:66885200-66886000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:66885200-66886000	Weak transcription	Hela-S3	cervix
30	chr11:66885200-66886200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:66885200-66886200	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr11:66885200-66886200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:66885200-66886800	Weak transcription	Fetal Kidney	kidney
34	chr11:66885200-66887400	Weak transcription	Fetal Heart	heart
35	chr11:66885200-66887600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:66885200-66887800	Active TSS	Spleen	Spleen
37	chr11:66885200-66888000	Active TSS	Primary T cells from cord blood	blood
38	chr11:66885200-66888400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:66885200-66888400	Active TSS	Brain Cingulate Gyrus	brain
40	chr11:66885200-66888400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:66885200-66888600	Active TSS	Duodenum Mucosa	Duodenum
42	chr11:66885200-66888600	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr11:66885200-66888800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr11:66885200-66888800	Active TSS	Esophagus	oesophagus
45	chr11:66885200-66888800	Active TSS	Gastric	stomach
46	chr11:66885200-66889000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:66885200-66889000	Active TSS	H9 Cell Line	embryonic stem cell
48	chr11:66885200-66889000	Active TSS	Brain Angular Gyrus	brain
49	chr11:66885200-66889000	Active TSS	Colon Smooth Muscle	Colon
50	chr11:66885200-66889000	Active TSS	Placenta Amnion	Placenta Amnion

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