Variant report

Variant	rs565761030
Chromosome Location	chr13:91998788-91998789
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	MAZ	chr13:91998533-92004929	K562	blood:	n/a	chr13:91999821-91999831 chr13:91998551-91998561 chr13:92001061-92001071 chr13:92001123-92001132 chr13:92000750-92000759
2	BCLAF1	chr13:91998654-92000393	K562	blood:	n/a	chr13:91999970-91999979 chr13:91999772-91999785 chr13:91999759-91999772 chr13:91999967-91999976 chr13:91999968-91999981 chr13:91999967-91999980 chr13:92000044-92000057 chr13:91999923-91999936
3	CREB1	chr13:91998190-92005186	K562	blood:	n/a	n/a
4	MXI1	chr13:91998376-92005054	K562	blood:	n/a	n/a
5	RELA	chr13:91997747-92000138	GM19193	blood:	n/a	chr13:91999115-91999124 chr13:91998500-91998509 chr13:91998500-91998509 chr13:91999115-91999124
6	PML	chr13:91998755-92014623	K562	blood:	n/a	chr13:92004530-92004538
7	RCOR1	chr13:91998375-92003817	K562	blood:	n/a	n/a
8	POLR2A	chr13:91998785-92013715	H1-hESC	embryonic stem cell:	n/a	n/a
9	TEAD4	chr13:91998778-92000333	K562	blood:	n/a	n/a
10	KAP1	chr13:91997424-91999544	K562	blood:	n/a	n/a
11	ARID3A	chr13:91998579-92000364	K562	blood:	n/a	chr13:91999839-91999851 chr13:91999797-91999809 chr13:91999677-91999689
12	POLR2A	chr13:91998281-92020412	K562	blood:	n/a	n/a
13	MAFK	chr13:91998740-92000057	K562	blood:	n/a	n/a
14	MYC	chr13:91998571-92003281	K562	blood:	n/a	chr13:91999821-91999831 chr13:92001061-92001071 chr13:92001123-92001132 chr13:92001374-92001384 chr13:92000750-92000759
15	STAT5A	chr13:91998671-91999711	K562	blood:	n/a	chr13:91999100-91999114 chr13:91999056-91999076 chr13:91999099-91999114
16	RELA	chr13:91998140-92000091	GM19099	blood:	n/a	chr13:91999115-91999124 chr13:91998500-91998509 chr13:91998500-91998509 chr13:91999115-91999124
17	CREB1	chr13:91998768-92000350	K562	blood:	n/a	n/a
18	CEBPB	chr13:91998543-91999640	K562	blood:	n/a	n/a
19	IRF1	chr13:91997662-92000290	K562	blood:	n/a	chr13:91999820-91999834 chr13:91998237-91998244 chr13:92000024-92000038 chr13:91999672-91999686
20	RELA	chr13:91997886-92000002	GM12878	blood:	n/a	chr13:91999115-91999124 chr13:91998500-91998509 chr13:91998500-91998509 chr13:91999115-91999124
21	STAT5A	chr13:91998786-92000337	K562	blood:	n/a	chr13:91999100-91999114 chr13:91999056-91999076 chr13:91999099-91999114
22	NFIC	chr13:91997943-91998807	GM12878	blood:	n/a	n/a
23	IRF1	chr13:91998000-92005067	K562	blood:	n/a	chr13:92001474-92001483 chr13:91999820-91999834 chr13:92003791-92003801 chr13:92000878-92000892 chr13:92001513-92001527 chr13:91998237-91998244 chr13:92000024-92000038 chr13:92001475-92001489 chr13:92001513-92001523 chr13:92003551-92003565 chr13:92001151-92001165 chr13:92003555-92003566 chr13:91999672-91999686
24	POLR2A	chr13:91998513-92014840	GM12878	blood:	n/a	n/a
25	TBL1XR1	chr13:91998388-92000273	K562	blood:	n/a	n/a
26	MYC	chr13:91998375-92004934	K562	blood:	n/a	chr13:91999821-91999831 chr13:91998551-91998561 chr13:92001061-92001071 chr13:92001123-92001132 chr13:92001374-92001384 chr13:92000750-92000759
27	CEBPD	chr13:91998754-92003803	K562	blood:	n/a	n/a
28	MXI1	chr13:91998623-92003408	SK-N-SH	brain:	n/a	n/a
29	EP300	chr13:91998702-92000090	GM12878	blood:	n/a	chr13:91999765-91999774 chr13:91999702-91999718 chr13:91999777-91999793 chr13:91999966-91999975 chr13:91999969-91999978 chr13:91999812-91999828
30	PML	chr13:91998726-92000345	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:91998556..92002777-chr9:134147037..134155728,18	K562	blood:
2	chr13:91998254..92002103-chr22:22898499..22902488,4	K562	blood:
3	chr13:91998254..92001076-chr22:22898499..22901171,2	K562	blood:
4	chr13:91996642..91999334-chr13:92113373..92115968,2	K562	blood:
5	chr13:91998556..92001592-chr9:134150017..134155728,10	K562	blood:
6	chr13:91899592..91901099-chr13:91998004..91999669,2	K562	blood:
7	chr13:91998294..91999880-chr13:92024685..92027354,2	MCF-7	breast:
8	chr13:91998776..92000555-chr13:92831916..92834550,2	K562	blood:
9	chr13:91998703..91999501-chr2:70314810..70315727,2	Hela-S3	cervix:
10	chr13:91996769..92000031-chr13:92330723..92334670,4	K562	blood:

Variant related genes	Relation type
MIR17HG	TF binding region
ENSG00000185686	Chromatin interaction
ENSG00000179818	Chromatin interaction
ENSG00000126882	Chromatin interaction
ENSG00000229287	Chromatin interaction
ENSG00000220891	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042947	chr13:91571040-92416897	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
2	nsv541871	chr13:91571040-92416897	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
3	esv1803618	chr13:91669587-92277699	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1945 gene(s)	inside rSNPs	diseases
4	nsv1050259	chr13:91759549-92152078	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
5	nsv541872	chr13:91759549-92152078	Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
6	nsv832679	chr13:91859467-92030220	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1943 gene(s)	inside rSNPs	diseases
7	esv1794000	chr13:91983910-92001350	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	esv1797111	chr13:91983910-92001472	Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
9	nsv562694	chr13:91992157-92001119	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
10	esv1796195	chr13:91992157-92001472	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
11	esv1840145	chr13:91992157-92001472	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
12	nsv562695	chr13:91992157-92001472	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
13	esv1795019	chr13:91992157-92003589	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1146 gene(s)	inside rSNPs	diseases
14	esv3404637	chr13:91998776-92001324	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91993800-91998800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:91994600-91999200	Weak transcription	Stomach Mucosa	stomach
3	chr13:91997600-91998800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr13:91997800-91998800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr13:91998000-91999600	Flanking Active TSS	GM12878-XiMat	blood
6	chr13:91998400-91998800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:91998400-91999000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr13:91998400-91999000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr13:91998600-91998800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr13:91998600-91998800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr13:91998600-91999000	Enhancers	Primary hematopoietic stem cells	blood
12	chr13:91998600-91999200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr13:91998600-91999600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr13:91998600-91999600	Flanking Active TSS	Dnd41	blood
15	chr13:91998600-91999800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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