Variant report

Variant	rs182404241
Chromosome Location	chr12:9917464-9917465
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	PAX5	chr12:9917325-9917827	GM12878	blood:	n/a	n/a
2	NFATC1	chr12:9917277-9918204	GM12878	blood:	n/a	n/a
3	SRF	chr12:9917280-9917627	GM12878	blood:	n/a	chr12:9917437-9917452 chr12:9917436-9917453 chr12:9917435-9917453
4	STAT1	chr12:9917388-9918006	GM12878	blood:	n/a	chr12:9917753-9917761
5	BCL3	chr12:9917429-9918045	GM12878	blood:	n/a	chr12:9917539-9917546
6	POLR2A	chr12:9917301-9917631	GM12878	blood:	n/a	n/a
7	ZMIZ1	chr12:9917302-9918048	K562	blood:	n/a	n/a
8	SRF	chr12:9917286-9917605	GM12878	blood:	n/a	chr12:9917437-9917452 chr12:9917436-9917453 chr12:9917435-9917453
9	EP300	chr12:9917195-9918105	K562	blood:	n/a	chr12:9917638-9917652 chr12:9917636-9917650
10	STAT5A	chr12:9917327-9917822	GM12878	blood:	n/a	chr12:9917753-9917761
11	MEF2C	chr12:9917396-9917939	GM12878	blood:	n/a	chr12:9917771-9917786 chr12:9917769-9917784 chr12:9917769-9917784 chr12:9917770-9917785 chr12:9917770-9917784 chr12:9917769-9917785 chr12:9917768-9917789 chr12:9917772-9917783
12	TRIM28	chr12:9917265-9917857	K562	blood:	n/a	n/a
13	TCF3	chr12:9917307-9918070	GM12878	blood:	n/a	n/a
14	BCL11A	chr12:9917313-9917976	GM12878	blood:	n/a	chr12:9917539-9917546
15	NR2F2	chr12:9917322-9917721	K562	blood:	n/a	n/a
16	POU2F2	chr12:9917236-9918025	GM12878	blood:	n/a	chr12:9917744-9917755 chr12:9917746-9917756 chr12:9917746-9917756 chr12:9917746-9917755 chr12:9917739-9917761 chr12:9917747-9917754 chr12:9917743-9917758 chr12:9917743-9917757
17	RCOR1	chr12:9916803-9918075	GM12878	blood:	n/a	n/a
18	NFYB	chr12:9917354-9917677	GM12878	blood:	n/a	n/a
19	NR2F2	chr12:9917262-9917857	K562	blood:	n/a	n/a
20	BCLAF1	chr12:9917205-9917806	GM12878	blood:	n/a	chr12:9917539-9917546
21	RELA	chr12:9917237-9918367	GM18505	blood:	n/a	chr12:9917852-9917861 chr12:9917852-9917861
22	GATA1	chr12:9916592-9918259	PBDE	blood:	n/a	chr12:9918194-9918207 chr12:9917534-9917550 chr12:9917539-9917556
23	ATF3	chr12:9917314-9917697	K562	blood:	n/a	n/a
24	BCLAF1	chr12:9917299-9918112	GM12878	blood:	n/a	chr12:9917539-9917546
25	MAX	chr12:9916412-9918022	NB4	blood:	n/a	chr12:9916589-9916599
26	IRF1	chr12:9917030-9917832	K562	blood:	n/a	n/a
27	RUNX3	chr12:9917290-9918040	GM12878	blood:	n/a	n/a
28	SRF	chr12:9917339-9917735	MCF-7	breast:	n/a	chr12:9917437-9917452 chr12:9917436-9917453 chr12:9917435-9917453
29	CREB1	chr12:9917139-9918122	GM12878	blood:	n/a	n/a
30	STAT3	chr12:9916518-9918102	GM12878	blood:	n/a	chr12:9917753-9917761 chr12:9917226-9917237
31	MYC	chr12:9917335-9917815	K562	blood:	n/a	n/a
32	WRNIP1	chr12:9917370-9917713	GM12878	blood:	n/a	n/a
33	KAP1	chr12:9916865-9917788	K562	blood:	n/a	n/a
34	POLR2A	chr12:9917081-9917834	K562	blood:	n/a	n/a
35	SPI1	chr12:9917230-9917782	HL-60	blood:	n/a	n/a
36	JUND	chr12:9917227-9918195	K562	blood:	n/a	n/a
37	RELA	chr12:9917319-9918097	GM12892	blood:	n/a	chr12:9917852-9917861 chr12:9917852-9917861
38	ELK4	chr12:9917272-9917568	HEK293	kidney:	n/a	n/a
39	SRF	chr12:9917246-9917626	GM12878	blood:	n/a	chr12:9917437-9917452 chr12:9917436-9917453 chr12:9917435-9917453
40	RCOR1	chr12:9917360-9918042	K562	blood:	n/a	n/a
41	POLR2A	chr12:9917271-9917796	HL-60	blood:	n/a	n/a
42	ZNF384	chr12:9917371-9918235	GM12878	blood:	n/a	n/a
43	NFIC	chr12:9917089-9918246	GM12878	blood:	n/a	n/a
44	ELF1	chr12:9917324-9917745	GM12878	blood:	n/a	n/a
45	HCFC1	chr12:9917372-9918045	K562	blood:	n/a	n/a
46	MAZ	chr12:9917301-9917905	K562	blood:	n/a	n/a
47	POLR2A	chr12:9917195-9918031	NB4	blood:	n/a	n/a
48	REST	chr12:9917388-9917651	K562	blood:	n/a	n/a
49	CEBPB	chr12:9917152-9917680	K562	blood:	n/a	n/a
50	TEAD4	chr12:9917276-9917976	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:9916372..9918378-chr12:9944960..9947867,2	K562	blood:
2	chr12:9895231..9897767-chr12:9915766..9917544,2	K562	blood:
3	chr12:9916166..9917917-chr12:9948178..9949717,2	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9903400-9917600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:9913800-9917600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:9914200-9917800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr12:9914200-9918600	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:9914400-9918400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:9914400-9918600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:9914600-9917800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:9914600-9918400	Enhancers	Fetal Thymus	thymus
9	chr12:9914600-9918600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:9914600-9920200	Enhancers	Primary T cells from cord blood	blood
11	chr12:9914800-9918600	Enhancers	Primary hematopoietic stem cells	blood
12	chr12:9916000-9917800	Enhancers	K562	blood
13	chr12:9916000-9918400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:9916200-9918400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:9916600-9918000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:9916600-9918400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:9917000-9917800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:9917000-9918200	Enhancers	HUVEC	blood vessel
19	chr12:9917200-9917600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr12:9917200-9917600	Active TSS	Duodenum Mucosa	Duodenum
21	chr12:9917200-9917800	Active TSS	Primary B cells from cord blood	blood
22	chr12:9917400-9917600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:9917400-9917600	Enhancers	Esophagus	oesophagus
24	chr12:9917400-9917600	Enhancers	Dnd41	blood
25	chr12:9917400-9917800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr12:9917400-9917800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:9917400-9917800	Active TSS	Thymus	Thymus
28	chr12:9917400-9917800	Active TSS	GM12878-XiMat	blood
29	chr12:9917400-9918000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:9917400-9918000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr12:9917400-9918200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr12:9917400-9918200	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr12:9917400-9918200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:9917400-9918600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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