Variant report

Variant	rs117006594
Chromosome Location	chr12:9918266-9918267
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	RFX5	chr12:9917875-9918368	K562	blood:	n/a	n/a
2	RELA	chr12:9917237-9918367	GM18505	blood:	n/a	chr12:9917852-9917861 chr12:9917852-9917861
3	IRF1	chr12:9918209-9919206	K562	blood:	n/a	chr12:9918343-9918352
4	CUX1	chr12:9916645-9918269	GM12878	blood:	n/a	chr12:9916944-9916953
5	POLR2A	chr12:9916528-9918291	PBDE	blood:	n/a	n/a
6	TBL1XR1	chr12:9916464-9918325	GM12878	blood:	n/a	n/a
7	CUX1	chr12:9917366-9918418	K562	blood:	n/a	n/a
8	RELA	chr12:9917209-9918377	GM19099	blood:	n/a	chr12:9917852-9917861 chr12:9917852-9917861
9	RELA	chr12:9917259-9918328	GM19193	blood:	n/a	chr12:9917852-9917861 chr12:9917852-9917861
10	RELA	chr12:9916566-9918311	GM12878	blood:	n/a	chr12:9917852-9917861 chr12:9917852-9917861
11	RELA	chr12:9917269-9918457	GM15510	blood:	n/a	chr12:9917852-9917861 chr12:9917852-9917861
12	JUN	chr12:9917104-9918483	K562	blood:	n/a	n/a
13	MAFK	chr12:9917257-9918347	K562	blood:	n/a	n/a
14	POLR2A	chr12:9918197-9918482	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9916372..9918378-chr12:9944960..9947867,2	K562	blood:

Variant related genes	Relation type
CD69	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv975645	chr12:9917034-9924808	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9914200-9918600	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:9914400-9918400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:9914400-9918600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:9914600-9918400	Enhancers	Fetal Thymus	thymus
5	chr12:9914600-9918600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:9914600-9920200	Enhancers	Primary T cells from cord blood	blood
7	chr12:9914800-9918600	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:9916000-9918400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:9916200-9918400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:9916600-9918400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:9917400-9918600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr12:9917600-9918400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:9917600-9918400	Flanking Active TSS	Dnd41	blood
14	chr12:9917600-9927200	Weak transcription	Esophagus	oesophagus
15	chr12:9917800-9918400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr12:9917800-9918400	Flanking Active TSS	GM12878-XiMat	blood
17	chr12:9918000-9918400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:9918000-9918600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:9918200-9918400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr12:9918200-9918400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr12:9918200-9918400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr12:9918200-9918400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:9918200-9918400	Flanking Active TSS	Thymus	Thymus
24	chr12:9918200-9918400	Enhancers	K562	blood
25	chr12:9918200-9918800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:9918200-9919000	Enhancers	Primary B cells from cord blood	blood
27	chr12:9918200-9919000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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