Variant report

Variant	rs545424817
Chromosome Location	chr11:66610044-66610045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66609503-66611705	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr11:66608869-66611525	IMR90	lung:	n/a	n/a
3	POLR2A	chr11:66609968-66611477	Raji	blood:	n/a	n/a
4	POLR2A	chr11:66609729-66611748	HCT-116	colon:	n/a	n/a
5	POLR2A	chr11:66609570-66613686	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr11:66608785-66612814	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr11:66609194-66617823	K562	blood:	n/a	n/a
8	POLR2A	chr11:66609786-66612359	H1-hESC	embryonic stem cell:	n/a	n/a
9	STAT5A	chr11:66610026-66611296	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:66609891-66613888	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:66610024-66611373	GM12892	blood:	n/a	n/a
12	POLR2A	chr11:66608768-66611588	GM12892	blood:	n/a	n/a
13	WRNIP1	chr11:66609168-66610278	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:66608824-66610248	K562	blood:	n/a	n/a
15	SIN3AK20	chr11:66609849-66612267	MCF-7	breast:	n/a	n/a
16	POLR2A	chr11:66609908-66611430	GM19193	blood:	n/a	n/a
17	POLR2A	chr11:66609832-66611378	GM19099	blood:	n/a	n/a
18	POLR2A	chr11:66608787-66613638	Hela-S3	cervix:	n/a	n/a
19	CHD1	chr11:66609829-66611810	IMR90	lung:	n/a	n/a
20	POLR2A	chr11:66608551-66610224	HepG2	liver:	n/a	n/a
21	ELF1	chr11:66610023-66611202	MCF-7	breast:	n/a	n/a
22	PML	chr11:66609738-66611360	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:66609791-66616646	HepG2	liver:	n/a	n/a
24	MXI1	chr11:66609722-66611917	IMR90	lung:	n/a	n/a
25	POLR2A	chr11:66609516-66611749	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr11:66608996-66612533	A549	lung:	n/a	n/a
27	MTA3	chr11:66609595-66611638	GM12878	blood:	n/a	n/a
28	MXI1	chr11:66609907-66611369	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:66609916-66611488	GM18505	blood:	n/a	n/a
30	POLR2A	chr11:66609887-66611594	A549	lung:	n/a	n/a
31	POLR2A	chr11:66609337-66611583	MCF-7	breast:	n/a	n/a
32	REST	chr11:66609867-66611701	H1-neurons	neurons:	n/a	chr11:66610589-66610602 chr11:66610143-66610156
33	POLR2A	chr11:66609275-66611534	HL-60	blood:	n/a	n/a
34	POLR2A	chr11:66609585-66611403	U87	brain:	n/a	n/a
35	POLR2A	chr11:66609848-66611824	PBDE	blood:	n/a	n/a
36	POLR2A	chr11:66610026-66611418	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:66609870-66610078	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr11:66609991-66611363	HUVEC	blood vessel:	n/a	n/a
39	ELF1	chr11:66609872-66611504	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:66608767-66611561	GM12892	blood:	n/a	n/a
41	POLR2A	chr11:66609337-66613916	K562	blood:	n/a	n/a
42	POLR2A	chr11:66609869-66611538	GM12878	blood:	n/a	n/a
43	HEY1	chr11:66609925-66611471	K562	blood:	n/a	chr11:66610853-66610868 chr11:66610867-66610876 chr11:66610865-66610874
44	POLR2A	chr11:66609987-66611555	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr11:66608684-66612061	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:66609974-66611423	K562	blood:	n/a	n/a
47	POLR2A	chr11:66608942-66611364	GM12891	blood:	n/a	n/a
48	ZNF263	chr11:66609788-66611760	HEK293-T-REx	kidney:	n/a	chr11:66611386-66611395
49	POLR2A	chr11:66609849-66611608	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr11:66609464-66611453	GM12878	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66382834..66385976-chr11:66609299..66612112,4	MCF-7	breast:
2	chr11:66510950..66513951-chr11:66609441..66612389,4	MCF-7	breast:
3	chr11:66608006..66612050-chr11:66789663..66791972,5	MCF-7	breast:
4	chr11:66587872..66589833-chr11:66608211..66610611,2	K562	blood:
5	chr11:66444643..66447365-chr11:66608477..66611039,2	MCF-7	breast:
6	chr11:66607553..66610979-chr11:66790122..66792121,3	MCF-7	breast:
7	chr11:66443889..66445680-chr11:66609374..66612463,3	K562	blood:
8	chr11:66404049..66406988-chr11:66609291..66612357,4	MCF-7	breast:
9	chr11:66610034..66612192-chr11:67054679..67057615,2	MCF-7	breast:
10	chr11:66240024..66242825-chr11:66609200..66612137,2	MCF-7	breast:
11	chr11:66486907..66489706-chr11:66608896..66612610,3	MCF-7	breast:
12	chr11:66457271..66460204-chr11:66608971..66610490,2	MCF-7	breast:
13	chr11:66443889..66447498-chr11:66608460..66612257,3	K562	blood:
14	chr11:66609744..66612707-chr12:120727053..120729795,2	MCF-7	breast:
15	chr11:66588753..66591298-chr11:66609854..66611938,2	MCF-7	breast:
16	chr11:66609254..66612019-chr11:66742000..66745352,5	MCF-7	breast:
17	chr11:66410966..66412972-chr11:66609483..66612002,2	MCF-7	breast:
18	chr11:66609696..66614934-chr11:66722798..66726985,5	K562	blood:
19	chr11:66232704..66235668-chr11:66609805..66612233,2	MCF-7	breast:
20	chr11:66607838..66611911-chr11:66724380..66727140,5	MCF-7	breast:
21	chr11:66382897..66385636-chr11:66609327..66612725,4	MCF-7	breast:

No data

Variant related genes	Relation type
RCE1	TF binding region
ENSG00000202538	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000173599	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000173715	Chromatin interaction
ENSG00000173933	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000173237	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000174516	Chromatin interaction
ENSG00000173898	Chromatin interaction
ENSG00000255517	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	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer 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 miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv508638	chr11:66541653-66643634	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers 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	53 gene(s)	inside rSNPs	diseases
6	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
8	nsv897795	chr11:66608521-66637926	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	49 gene(s)	inside rSNPs	diseases
9	esv3338969	chr11:66609601-66612149	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	29 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	chr11:66608800-66610600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr11:66609000-66610200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr11:66609200-66610200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:66609200-66610200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr11:66609200-66610200	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr11:66609200-66610200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr11:66609200-66610400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr11:66609200-66610400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr11:66609200-66610400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:66609200-66610600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr11:66609400-66610200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:66609400-66610200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:66609400-66610200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:66609400-66610200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr11:66609400-66610200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr11:66609400-66610200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:66609400-66610200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:66609400-66610200	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr11:66609400-66610200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr11:66609400-66610200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr11:66609400-66610200	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr11:66609400-66610200	Flanking Active TSS	Right Ventricle	heart
23	chr11:66609400-66610200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr11:66609400-66610200	Flanking Active TSS	Hela-S3	cervix
25	chr11:66609400-66610200	Flanking Active TSS	HMEC	breast
26	chr11:66609400-66610400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr11:66609400-66610400	Flanking Active TSS	Colonic Mucosa	Colon
28	chr11:66609400-66610400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr11:66609400-66610600	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr11:66609400-66611800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:66609400-66612200	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr11:66609600-66610200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr11:66609600-66610200	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr11:66609600-66610200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr11:66609600-66610200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr11:66609600-66610200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:66609600-66610200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr11:66609600-66610200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:66609600-66610200	Flanking Active TSS	Liver	Liver
40	chr11:66609600-66610200	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr11:66609600-66610200	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr11:66609600-66610200	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr11:66609600-66610200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr11:66609600-66610200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:66609600-66610200	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr11:66609600-66610200	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr11:66609600-66610200	Flanking Active TSS	Fetal Brain Male	brain
48	chr11:66609600-66610200	Flanking Active TSS	Fetal Brain Female	brain
49	chr11:66609600-66610200	Flanking Active TSS	Fetal Heart	heart
50	chr11:66609600-66610200	Flanking Active TSS	Fetal Lung	lung

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