Variant report

Variant	rs535888321
Chromosome Location	chr11:66609803-66609804
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

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	chr11:66609729-66611748	HCT-116	colon:	n/a	n/a
4	HEY1	chr11:66609330-66609855	K562	blood:	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	POLR2A	chr11:66608768-66611588	GM12892	blood:	n/a	n/a
10	WRNIP1	chr11:66609168-66610278	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:66608824-66610248	K562	blood:	n/a	n/a
12	POLR2A	chr11:66608787-66613638	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:66608551-66610224	HepG2	liver:	n/a	n/a
14	PML	chr11:66609738-66611360	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:66609791-66616646	HepG2	liver:	n/a	n/a
16	MXI1	chr11:66609722-66611917	IMR90	lung:	n/a	n/a
17	POLR2A	chr11:66609516-66611749	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr11:66608996-66612533	A549	lung:	n/a	n/a
19	MTA3	chr11:66609595-66611638	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:66609337-66611583	MCF-7	breast:	n/a	n/a
21	POLR2A	chr11:66609275-66611534	HL-60	blood:	n/a	n/a
22	POLR2A	chr11:66609585-66611403	U87	brain:	n/a	n/a
23	POLR2A	chr11:66608767-66611561	GM12892	blood:	n/a	n/a
24	POLR2A	chr11:66609337-66613916	K562	blood:	n/a	n/a
25	POLR2A	chr11:66609299-66609871	GM12891	blood:	n/a	n/a
26	POLR2A	chr11:66608684-66612061	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:66608942-66611364	GM12891	blood:	n/a	n/a
28	ZNF263	chr11:66609788-66611760	HEK293-T-REx	kidney:	n/a	chr11:66611386-66611395
29	POLR2A	chr11:66609464-66611453	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:66609794-66613769	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr11:66609397-66612095	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr11:66608799-66612906	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr11:66609351-66611543	U87	brain:	n/a	n/a
34	POLR2A	chr11:66609739-66611517	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:66608687-66611869	GM12892	blood:	n/a	n/a
36	POLR2A	chr11:66609666-66610262	K562	blood:	n/a	n/a
37	POLR2A	chr11:66609761-66611501	GM12891	blood:	n/a	n/a
38	POLR2A	chr11:66609561-66612186	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:66608788-66611382	GM12878	blood:	n/a	n/a
40	ESRRA	chr11:66609516-66611358	GM12878	blood:	n/a	chr11:66610912-66610925
41	POLR2A	chr11:66609725-66611404	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr11:66609345-66611549	U87	brain:	n/a	n/a
43	POLR2A	chr11:66609099-66609991	GM12892	blood:	n/a	n/a
44	POLR2A	chr11:66609703-66610040	HCT-116	colon:	n/a	n/a
45	POLR2A	chr11:66609740-66611504	GM12891	blood:	n/a	n/a
46	POLR2A	chr11:66609661-66611742	K562	blood:	n/a	n/a

No data

(count:19 , 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	chr11:66608342..66609990-chr11:66741833..66743804,2	K562	blood:
8	chr11:66443889..66445680-chr11:66609374..66612463,3	K562	blood:
9	chr11:66404049..66406988-chr11:66609291..66612357,4	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	chr11:66609254..66612019-chr11:66742000..66745352,5	MCF-7	breast:
16	chr11:66410966..66412972-chr11:66609483..66612002,2	MCF-7	breast:
17	chr11:66609696..66614934-chr11:66722798..66726985,5	K562	blood:
18	chr11:66607838..66611911-chr11:66724380..66727140,5	MCF-7	breast:
19	chr11:66382897..66385636-chr11:66609327..66612725,4	MCF-7	breast:

No data

Variant related genes	Relation type
RCE1	TF binding region
ENSG00000173237	Chromatin interaction
ENSG00000173933	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000174516	Chromatin interaction
ENSG00000173898	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000173599	Chromatin interaction
ENSG00000173715	Chromatin interaction
ENSG00000239306	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:126 , 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	chr11:66609000-66610000	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr11:66609000-66610000	Flanking Active TSS	GM12878-XiMat	blood
4	chr11:66609000-66610000	Transcr. at gene 5' and 3'	K562	blood
5	chr11:66609000-66610200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr11:66609200-66610000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:66609200-66610000	Flanking Active TSS	Thymus	Thymus
8	chr11:66609200-66610200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:66609200-66610200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr11:66609200-66610200	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr11:66609200-66610200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr11:66609200-66610400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr11:66609200-66610400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr11:66609200-66610400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:66609200-66610600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr11:66609400-66610000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:66609400-66610000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr11:66609400-66610000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:66609400-66610000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:66609400-66610000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr11:66609400-66610000	Enhancers	Small Intestine	intestine
22	chr11:66609400-66610000	Enhancers	Spleen	Spleen
23	chr11:66609400-66610000	Transcr. at gene 5' and 3'	A549	lung
24	chr11:66609400-66610200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:66609400-66610200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:66609400-66610200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:66609400-66610200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr11:66609400-66610200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr11:66609400-66610200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:66609400-66610200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:66609400-66610200	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr11:66609400-66610200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr11:66609400-66610200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr11:66609400-66610200	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr11:66609400-66610200	Flanking Active TSS	Right Ventricle	heart
36	chr11:66609400-66610200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr11:66609400-66610200	Flanking Active TSS	Hela-S3	cervix
38	chr11:66609400-66610200	Flanking Active TSS	HMEC	breast
39	chr11:66609400-66610400	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr11:66609400-66610400	Flanking Active TSS	Colonic Mucosa	Colon
41	chr11:66609400-66610400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr11:66609400-66610600	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr11:66609400-66611800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:66609400-66612200	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:66609600-66610000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr11:66609600-66610000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
47	chr11:66609600-66610000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:66609600-66610000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:66609600-66610000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:66609600-66610000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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