Variant report

Variant	rs537503648
Chromosome Location	chr11:66886034-66886035
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	TCF3	chr11:66885670-66886759	GM12878	blood:	n/a	n/a
2	CHD2	chr11:66886031-66886946	GM12878	blood:	n/a	chr11:66886392-66886402
3	POLR2A	chr11:66885655-66886224	GM12892	blood:	n/a	n/a
4	TCF12	chr11:66885913-66886309	A549	lung:	n/a	chr11:66886298-66886305
5	MXI1	chr11:66885763-66886097	GM12878	blood:	n/a	n/a
6	YY1	chr11:66885865-66886136	A549	lung:	n/a	chr11:66886062-66886076
7	MAX	chr11:66886012-66886862	MCF-7	breast:	n/a	chr11:66886120-66886129
8	POLR2A	chr11:66885108-66886634	GM12892	blood:	n/a	n/a
9	YY1	chr11:66885807-66886211	ECC-1	luminal epithelium:	n/a	chr11:66886062-66886076
10	POLR2A	chr11:66885668-66886127	PBDE	blood:	n/a	n/a
11	POLR2A	chr11:66885780-66886213	A549	lung:	n/a	n/a
12	MAZ	chr11:66885004-66887904	IMR90	lung:	n/a	chr11:66886120-66886129 chr11:66886002-66886011 chr11:66887263-66887273
13	POLR2A	chr11:66884978-66886367	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:66885658-66886256	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:66885239-66886986	GM18526	blood:	n/a	n/a
16	TAF7	chr11:66885684-66886254	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:66885381-66886231	HUVEC	blood vessel:	n/a	n/a
18	ZBTB7A	chr11:66886026-66887546	ECC-1	luminal epithelium:	n/a	chr11:66887292-66887301 chr11:66887025-66887033
19	POLR2A	chr11:66885979-66887213	MCF-7	breast:	n/a	n/a
20	POLR2A	chr11:66885650-66886252	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr11:66885535-66887011	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:66885924-66886058	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:66885236-66887001	GM12892	blood:	n/a	n/a
24	POU2F2	chr11:66885564-66886073	GM12878	blood:	n/a	n/a
25	EGR1	chr11:66886008-66886734	K562	blood:	n/a	chr11:66886553-66886562 chr11:66886655-66886668 chr11:66886275-66886288 chr11:66886552-66886561 chr11:66886595-66886604 chr11:66886596-66886605 chr11:66886439-66886453 chr11:66886654-66886669 chr11:66886699-66886708 chr11:66886387-66886396 chr11:66886355-66886365
26	ZBTB7A	chr11:66885950-66887409	K562	blood:	n/a	chr11:66887292-66887301 chr11:66887025-66887033 chr11:66886008-66886015
27	POLR2A	chr11:66885165-66887278	GM18505	blood:	n/a	n/a
28	EBF1	chr11:66885785-66886223	GM12878	blood:	n/a	chr11:66885785-66885794 chr11:66885785-66885794
29	MYC	chr11:66885953-66886062	MCF-7	breast:	n/a	chr11:66886002-66886011
30	MAZ	chr11:66885269-66887072	GM12878	blood:	n/a	chr11:66886120-66886129 chr11:66886002-66886011
31	JUND	chr11:66885888-66886199	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr11:66885656-66886818	H1-hESC	embryonic stem cell:	n/a	chr11:66886120-66886129 chr11:66886002-66886011
33	SIN3A	chr11:66885690-66887976	H1-hESC	embryonic stem cell:	n/a	chr11:66886856-66886867 chr11:66886721-66886729
34	TCF7L2	chr11:66885907-66886130	PANC-1	pancreas:	n/a	n/a
35	CHD1	chr11:66885996-66886157	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr11:66885658-66886247	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr11:66885563-66886939	HEK293	kidney:	n/a	n/a
38	MAX	chr11:66885749-66886169	GM12878	blood:	n/a	chr11:66886120-66886129 chr11:66886002-66886011
39	POLR2A	chr11:66885668-66886095	HUVEC	blood vessel:	n/a	n/a
40	YY1	chr11:66885721-66886192	H1-hESC	embryonic stem cell:	n/a	chr11:66886062-66886076
41	YY1	chr11:66885605-66886139	GM12891	blood:	n/a	chr11:66886062-66886076
42	GABPA	chr11:66885781-66886126	H1-hESC	embryonic stem cell:	n/a	n/a
43	REST	chr11:66885865-66887319	H1-neurons	neurons:	n/a	chr11:66886843-66886851 chr11:66886288-66886301 chr11:66886613-66886626
44	TAF1	chr11:66885578-66886216	H1-hESC	embryonic stem cell:	n/a	n/a
45	STAT5A	chr11:66885681-66886166	GM12878	blood:	n/a	chr11:66885854-66885866
46	POLR2A	chr11:66885163-66887241	GM19099	blood:	n/a	n/a
47	BACH1	chr11:66885141-66886766	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr11:66885377-66886246	GM12891	blood:	n/a	n/a
49	POLR2A	chr11:66885589-66886158	GM12892	blood:	n/a	n/a
50	MAX	chr11:66885841-66887070	A549	lung:	n/a	chr11:66886120-66886129 chr11:66886002-66886011

No.	Distal block	Cell Line	Cell type
1	chr11:66884866..66886450-chr11:67007040..67008886,2	MCF-7	breast:
2	chr11:66885940..66887950-chr11:67395860..67397869,2	K562	blood:
3	chr11:66884756..66886465-chr11:66946415..66948664,2	MCF-7	breast:
4	chr11:66885437..66888305-chr11:67055921..67058495,2	MCF-7	breast:
5	chr11:66821625..66825972-chr11:66885437..66888104,7	MCF-7	breast:
6	chr11:66885158..66886682-chr11:67030764..67032501,2	K562	blood:
7	chr11:66885002..66889173-chr11:67005085..67009324,11	K562	blood:
8	chr11:66884916..66890908-chr11:67005112..67010354,8	MCF-7	breast:
9	chr11:66821404..66826403-chr11:66884710..66889541,16	MCF-7	breast:
10	chr11:66883623..66889678-chr11:67005085..67009894,16	K562	blood:
11	chr11:66847793..66850553-chr11:66883657..66886437,2	MCF-7	breast:

Variant related genes	Relation type
KDM2A	TF binding region
ENSG00000167799	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000173156	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66881000-66886800	Weak transcription	K562	blood
2	chr11:66884800-66886200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:66884800-66888800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr11:66884800-66889200	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr11:66885000-66886200	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr11:66885000-66886200	Bivalent/Poised TSS	Thymus	Thymus
7	chr11:66885000-66886800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:66885000-66887200	Weak transcription	Fetal Brain Male	brain
9	chr11:66885000-66888600	Active TSS	Brain Substantia Nigra	brain
10	chr11:66885000-66888800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:66885000-66888800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:66885000-66889000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:66885000-66889000	Active TSS	Lung	lung
14	chr11:66885000-66889000	Active TSS	Osteobl	bone
15	chr11:66885000-66889200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:66885000-66889600	Active TSS	Psoas Muscle	Psoas
17	chr11:66885000-66889800	Active TSS	Fetal Brain Female	brain
18	chr11:66885000-66889800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr11:66885200-66886200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:66885200-66886200	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr11:66885200-66886200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:66885200-66886800	Weak transcription	Fetal Kidney	kidney
23	chr11:66885200-66887400	Weak transcription	Fetal Heart	heart
24	chr11:66885200-66887600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:66885200-66887800	Active TSS	Spleen	Spleen
26	chr11:66885200-66888000	Active TSS	Primary T cells from cord blood	blood
27	chr11:66885200-66888400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:66885200-66888400	Active TSS	Brain Cingulate Gyrus	brain
29	chr11:66885200-66888400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:66885200-66888600	Active TSS	Duodenum Mucosa	Duodenum
31	chr11:66885200-66888600	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr11:66885200-66888800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr11:66885200-66888800	Active TSS	Esophagus	oesophagus
34	chr11:66885200-66888800	Active TSS	Gastric	stomach
35	chr11:66885200-66889000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:66885200-66889000	Active TSS	H9 Cell Line	embryonic stem cell
37	chr11:66885200-66889000	Active TSS	Brain Angular Gyrus	brain
38	chr11:66885200-66889000	Active TSS	Colon Smooth Muscle	Colon
39	chr11:66885200-66889000	Active TSS	Placenta Amnion	Placenta Amnion
40	chr11:66885200-66889200	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr11:66885200-66889200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr11:66885200-66889200	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr11:66885200-66889400	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr11:66885200-66889400	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr11:66885200-66889400	Active TSS	Brain Hippocampus Middle	brain
46	chr11:66885200-66889600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:66885200-66889600	Active TSS	Ovary	ovary
48	chr11:66885200-66889800	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:66885200-66889800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:66885200-66890000	Active TSS	HUES6 Cell Line	embryonic stem cell

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