Variant report

Variant	rs551868931
Chromosome Location	chr11:66885179-66885180
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	PAX5	chr11:66885146-66885885	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:66885108-66886634	GM12892	blood:	n/a	n/a
3	MAZ	chr11:66885004-66887904	IMR90	lung:	n/a	chr11:66886120-66886129 chr11:66886002-66886011 chr11:66887263-66887273
4	POLR2A	chr11:66884978-66886367	H1-hESC	embryonic stem cell:	n/a	n/a
5	MTA3	chr11:66884877-66885461	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:66885165-66887278	GM18505	blood:	n/a	n/a
7	EBF1	chr11:66885081-66885470	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:66885163-66887241	GM19099	blood:	n/a	n/a
9	BACH1	chr11:66885141-66886766	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:66885063-66886246	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr11:66885089-66887088	PANC-1	pancreas:	n/a	n/a
12	MAX	chr11:66885080-66885506	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:66885125-66885368	ProgFib	skin:	n/a	n/a
14	RUNX3	chr11:66884996-66885377	GM12878	blood:	n/a	n/a
15	SIN3AK20	chr11:66884940-66885505	PANC-1	pancreas:	n/a	n/a
16	TBP	chr11:66885093-66885365	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:66885108-66886178	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:66885064-66885429	H1-hESC	embryonic stem cell:	n/a	n/a
19	ELF1	chr11:66885088-66886214	GM12878	blood:	n/a	chr11:66886042-66886054 chr11:66886063-66886075 chr11:66885889-66885901
20	TAF1	chr11:66885030-66885509	H1-hESC	embryonic stem cell:	n/a	n/a
21	TAF1	chr11:66885091-66885529	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr11:66885168-66885439	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:66884975-66886963	H1-hESC	embryonic stem cell:	n/a	n/a
24	YY1	chr11:66885116-66886224	GM12892	blood:	n/a	chr11:66886062-66886076 chr11:66885282-66885293

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	chr11:66885158..66886682-chr11:67030764..67032501,2	K562	blood:
4	chr11:66885002..66889173-chr11:67005085..67009324,11	K562	blood:
5	chr11:66884916..66890908-chr11:67005112..67010354,8	MCF-7	breast:
6	chr11:66821404..66826403-chr11:66884710..66889541,16	MCF-7	breast:
7	chr11:66883623..66889678-chr11:67005085..67009894,16	K562	blood:
8	chr11:66847793..66850553-chr11:66883657..66886437,2	MCF-7	breast:

Variant related genes	Relation type
KDM2A	TF binding region
ENSG00000173120	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66879000-66885200	Weak transcription	Right Ventricle	heart
2	chr11:66879200-66885200	Weak transcription	Left Ventricle	heart
3	chr11:66881000-66886800	Weak transcription	K562	blood
4	chr11:66881200-66885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:66881200-66885200	Weak transcription	Dnd41	blood
6	chr11:66882600-66885200	Enhancers	A549	lung
7	chr11:66883600-66885200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:66883600-66886000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:66884000-66885200	Enhancers	Fetal Stomach	stomach
10	chr11:66884200-66885200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr11:66884200-66885400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:66884400-66885400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:66884600-66885200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr11:66884600-66885200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
15	chr11:66884600-66885200	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr11:66884800-66885200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
17	chr11:66884800-66885200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
18	chr11:66884800-66885200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
19	chr11:66884800-66885200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
20	chr11:66884800-66885200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
21	chr11:66884800-66885200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:66884800-66885200	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr11:66884800-66885200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:66884800-66885200	Flanking Active TSS	Fetal Heart	heart
25	chr11:66884800-66885200	Flanking Active TSS	Fetal Kidney	kidney
26	chr11:66884800-66885400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr11:66884800-66885400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:66884800-66885400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:66884800-66885400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr11:66884800-66885400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr11:66884800-66885400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr11:66884800-66886200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:66884800-66888800	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr11:66884800-66889200	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr11:66885000-66885200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:66885000-66885200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:66885000-66885200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:66885000-66885200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:66885000-66885200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:66885000-66885200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:66885000-66885200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
42	chr11:66885000-66885200	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr11:66885000-66885200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr11:66885000-66885200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:66885000-66885200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:66885000-66885200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:66885000-66885200	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr11:66885000-66885200	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr11:66885000-66885200	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr11:66885000-66885200	Flanking Active TSS	Colon Smooth Muscle	Colon

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